← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-61526021-AGGTT-CCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61526021&ref=AGGTT&alt=CCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 61526021,
"ref": "AGGTT",
"alt": "CCC",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001413844.1",
"consequences": [
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "NM_004318.4",
"protein_id": "NP_004309.2",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 758,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004318.4"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "ENST00000379454.9",
"protein_id": "ENSP00000368767.4",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 758,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004318.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379454.9"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2422_2426delAACCTinsGGG",
"hgvs_p": "p.Asn808fs",
"transcript": "ENST00000950798.1",
"protein_id": "ENSP00000620857.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 948,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950798.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "NM_001413844.1",
"protein_id": "NP_001400773.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 785,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413844.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "ENST00000887974.1",
"protein_id": "ENSP00000558033.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 785,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887974.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "ENST00000887966.1",
"protein_id": "ENSP00000558025.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 784,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887966.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1897_1901delAACCTinsGGG",
"hgvs_p": "p.Asn633fs",
"transcript": "NM_001413845.1",
"protein_id": "NP_001400774.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 773,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413845.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1897_1901delAACCTinsGGG",
"hgvs_p": "p.Asn633fs",
"transcript": "ENST00000887927.1",
"protein_id": "ENSP00000557986.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 773,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887927.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1894_1898delAACCTinsGGG",
"hgvs_p": "p.Asn632fs",
"transcript": "NM_001413846.1",
"protein_id": "NP_001400775.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 772,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413846.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1894_1898delAACCTinsGGG",
"hgvs_p": "p.Asn632fs",
"transcript": "ENST00000887945.1",
"protein_id": "ENSP00000558004.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 772,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887945.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "ENST00000887960.1",
"protein_id": "ENSP00000558019.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 771,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887960.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1891_1895delAACCTinsGGG",
"hgvs_p": "p.Asn631fs",
"transcript": "ENST00000950785.1",
"protein_id": "ENSP00000620844.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 771,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950785.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1807_1811delAACCTinsGGG",
"hgvs_p": "p.Asn603fs",
"transcript": "ENST00000913382.1",
"protein_id": "ENSP00000583441.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 770,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913382.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1795_1799delAACCTinsGGG",
"hgvs_p": "p.Asn599fs",
"transcript": "NM_001413847.1",
"protein_id": "NP_001400776.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 766,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413847.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1795_1799delAACCTinsGGG",
"hgvs_p": "p.Asn599fs",
"transcript": "ENST00000887970.1",
"protein_id": "ENSP00000558029.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 766,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887970.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1792_1796delAACCTinsGGG",
"hgvs_p": "p.Asn598fs",
"transcript": "ENST00000887950.1",
"protein_id": "ENSP00000558009.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 765,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887950.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1855_1859delAACCTinsGGG",
"hgvs_p": "p.Asn619fs",
"transcript": "NM_001413848.1",
"protein_id": "NP_001400777.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 759,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413848.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1855_1859delAACCTinsGGG",
"hgvs_p": "p.Asn619fs",
"transcript": "ENST00000887973.1",
"protein_id": "ENSP00000558032.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 759,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887973.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1855_1859delAACCTinsGGG",
"hgvs_p": "p.Asn619fs",
"transcript": "ENST00000887975.1",
"protein_id": "ENSP00000558034.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 759,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887975.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "NM_001413849.1",
"protein_id": "NP_001400778.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 758,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413849.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "ENST00000950787.1",
"protein_id": "ENSP00000620846.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 758,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950787.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "NM_001413850.1",
"protein_id": "NP_001400779.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 757,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413850.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "NM_001413851.1",
"protein_id": "NP_001400780.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 757,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413851.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "ENST00000887926.1",
"protein_id": "ENSP00000557985.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 757,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887926.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "ENST00000950777.1",
"protein_id": "ENSP00000620836.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 757,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950777.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "ENST00000950795.1",
"protein_id": "ENSP00000620854.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 757,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950795.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1846_1850delAACCTinsGGG",
"hgvs_p": "p.Asn616fs",
"transcript": "ENST00000913381.1",
"protein_id": "ENSP00000583440.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 756,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913381.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1840_1844delAACCTinsGGG",
"hgvs_p": "p.Asn614fs",
"transcript": "NM_001413852.1",
"protein_id": "NP_001400781.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 754,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413852.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1840_1844delAACCTinsGGG",
"hgvs_p": "p.Asn614fs",
"transcript": "ENST00000887931.1",
"protein_id": "ENSP00000557990.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 754,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887931.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1837_1841delAACCTinsGGG",
"hgvs_p": "p.Asn613fs",
"transcript": "NM_001413853.1",
"protein_id": "NP_001400782.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 753,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413853.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1834_1838delAACCTinsGGG",
"hgvs_p": "p.Asn612fs",
"transcript": "ENST00000887961.1",
"protein_id": "ENSP00000558020.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 752,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887961.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "NM_001413854.1",
"protein_id": "NP_001400783.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 744,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413854.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "NM_001413855.1",
"protein_id": "NP_001400784.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 744,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413855.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "NM_001413856.1",
"protein_id": "NP_001400785.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 744,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413856.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "ENST00000887938.1",
"protein_id": "ENSP00000557997.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 744,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887938.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "ENST00000887971.1",
"protein_id": "ENSP00000558030.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 744,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887971.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1807_1811delAACCTinsGGG",
"hgvs_p": "p.Asn603fs",
"transcript": "NM_001413857.1",
"protein_id": "NP_001400786.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 743,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413857.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1807_1811delAACCTinsGGG",
"hgvs_p": "p.Asn603fs",
"transcript": "ENST00000887933.1",
"protein_id": "ENSP00000557992.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 743,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887933.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1807_1811delAACCTinsGGG",
"hgvs_p": "p.Asn603fs",
"transcript": "ENST00000887956.1",
"protein_id": "ENSP00000558015.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 743,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887956.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1807_1811delAACCTinsGGG",
"hgvs_p": "p.Asn603fs",
"transcript": "ENST00000913383.1",
"protein_id": "ENSP00000583442.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 743,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913383.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1804_1808delAACCTinsGGG",
"hgvs_p": "p.Asn602fs",
"transcript": "NM_001413858.1",
"protein_id": "NP_001400787.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 742,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413858.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "NM_001413859.1",
"protein_id": "NP_001400788.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 742,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413859.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1804_1808delAACCTinsGGG",
"hgvs_p": "p.Asn602fs",
"transcript": "ENST00000887948.1",
"protein_id": "ENSP00000558007.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 742,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887948.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "ENST00000887964.1",
"protein_id": "ENSP00000558023.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 742,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887964.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1795_1799delAACCTinsGGG",
"hgvs_p": "p.Asn599fs",
"transcript": "NM_001413860.1",
"protein_id": "NP_001400789.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 739,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413860.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1795_1799delAACCTinsGGG",
"hgvs_p": "p.Asn599fs",
"transcript": "ENST00000887925.1",
"protein_id": "ENSP00000557984.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 739,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887925.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1795_1799delAACCTinsGGG",
"hgvs_p": "p.Asn599fs",
"transcript": "ENST00000950778.1",
"protein_id": "ENSP00000620837.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 739,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950778.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1792_1796delAACCTinsGGG",
"hgvs_p": "p.Asn598fs",
"transcript": "NM_001413861.1",
"protein_id": "NP_001400790.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 738,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413861.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1792_1796delAACCTinsGGG",
"hgvs_p": "p.Asn598fs",
"transcript": "ENST00000887930.1",
"protein_id": "ENSP00000557989.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 738,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887930.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1777_1781delAACCTinsGGG",
"hgvs_p": "p.Asn593fs",
"transcript": "NM_001413862.1",
"protein_id": "NP_001400791.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 733,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413862.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1768_1772delAACCTinsGGG",
"hgvs_p": "p.Asn590fs",
"transcript": "NM_001413863.1",
"protein_id": "NP_001400792.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 730,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413863.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1768_1772delAACCTinsGGG",
"hgvs_p": "p.Asn590fs",
"transcript": "ENST00000887942.1",
"protein_id": "ENSP00000558001.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 730,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887942.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "NM_001164750.2",
"protein_id": "NP_001158222.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164750.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "NM_001413864.1",
"protein_id": "NP_001400793.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413864.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "NM_001413865.1",
"protein_id": "NP_001400794.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413865.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "NM_001413866.1",
"protein_id": "NP_001400795.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413866.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "ENST00000541428.5",
"protein_id": "ENSP00000437864.1",
"transcript_support_level": 2,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541428.5"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "ENST00000887959.1",
"protein_id": "ENSP00000558018.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887959.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "ENST00000913379.1",
"protein_id": "ENSP00000583438.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 729,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913379.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1762_1766delAACCTinsGGG",
"hgvs_p": "p.Asn588fs",
"transcript": "ENST00000887955.1",
"protein_id": "ENSP00000558014.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 728,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887955.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1753_1757delAACCTinsGGG",
"hgvs_p": "p.Asn585fs",
"transcript": "NM_001413867.1",
"protein_id": "NP_001400796.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413867.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1753_1757delAACCTinsGGG",
"hgvs_p": "p.Asn585fs",
"transcript": "NM_001413868.1",
"protein_id": "NP_001400797.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413868.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1753_1757delAACCTinsGGG",
"hgvs_p": "p.Asn585fs",
"transcript": "ENST00000887947.1",
"protein_id": "ENSP00000558006.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887947.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1753_1757delAACCTinsGGG",
"hgvs_p": "p.Asn585fs",
"transcript": "ENST00000887962.1",
"protein_id": "ENSP00000558021.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887962.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1753_1757delAACCTinsGGG",
"hgvs_p": "p.Asn585fs",
"transcript": "ENST00000950796.1",
"protein_id": "ENSP00000620855.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950796.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1750_1754delAACCTinsGGG",
"hgvs_p": "p.Asn584fs",
"transcript": "NM_001413869.1",
"protein_id": "NP_001400798.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 724,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413869.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1750_1754delAACCTinsGGG",
"hgvs_p": "p.Asn584fs",
"transcript": "ENST00000887943.1",
"protein_id": "ENSP00000558002.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 724,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887943.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1747_1751delAACCTinsGGG",
"hgvs_p": "p.Asn583fs",
"transcript": "NM_001413870.1",
"protein_id": "NP_001400799.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 723,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413870.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1747_1751delAACCTinsGGG",
"hgvs_p": "p.Asn583fs",
"transcript": "ENST00000887946.1",
"protein_id": "ENSP00000558005.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 723,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887946.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1666_1670delAACCTinsGGG",
"hgvs_p": "p.Asn556fs",
"transcript": "ENST00000950792.1",
"protein_id": "ENSP00000620851.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 723,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950792.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "NM_001413871.1",
"protein_id": "NP_001400800.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 715,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413871.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "NM_001413872.1",
"protein_id": "NP_001400801.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 715,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413872.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "ENST00000887935.1",
"protein_id": "ENSP00000557994.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 715,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887935.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "ENST00000887972.1",
"protein_id": "ENSP00000558031.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 715,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887972.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "ENST00000950782.1",
"protein_id": "ENSP00000620841.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 715,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950782.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1720_1724delAACCTinsGGG",
"hgvs_p": "p.Asn574fs",
"transcript": "NM_001413873.1",
"protein_id": "NP_001400802.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 714,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413873.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1720_1724delAACCTinsGGG",
"hgvs_p": "p.Asn574fs",
"transcript": "ENST00000887934.1",
"protein_id": "ENSP00000557993.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 714,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887934.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1720_1724delAACCTinsGGG",
"hgvs_p": "p.Asn574fs",
"transcript": "ENST00000950789.1",
"protein_id": "ENSP00000620848.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 714,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950789.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1711_1715delAACCTinsGGG",
"hgvs_p": "p.Asn571fs",
"transcript": "NM_001413874.1",
"protein_id": "NP_001400803.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 711,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413874.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1711_1715delAACCTinsGGG",
"hgvs_p": "p.Asn571fs",
"transcript": "ENST00000887953.1",
"protein_id": "ENSP00000558012.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 711,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887953.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1708_1712delAACCTinsGGG",
"hgvs_p": "p.Asn570fs",
"transcript": "NM_001413875.1",
"protein_id": "NP_001400804.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 710,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413875.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1708_1712delAACCTinsGGG",
"hgvs_p": "p.Asn570fs",
"transcript": "ENST00000887949.1",
"protein_id": "ENSP00000558008.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 710,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887949.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1708_1712delAACCTinsGGG",
"hgvs_p": "p.Asn570fs",
"transcript": "ENST00000887954.1",
"protein_id": "ENSP00000558013.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 710,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887954.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1708_1712delAACCTinsGGG",
"hgvs_p": "p.Asn570fs",
"transcript": "ENST00000950783.1",
"protein_id": "ENSP00000620842.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 710,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950783.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1705_1709delAACCTinsGGG",
"hgvs_p": "p.Asn569fs",
"transcript": "ENST00000950786.1",
"protein_id": "ENSP00000620845.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 709,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950786.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1621_1625delAACCTinsGGG",
"hgvs_p": "p.Asn541fs",
"transcript": "ENST00000950797.1",
"protein_id": "ENSP00000620856.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 708,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950797.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1618_1622delAACCTinsGGG",
"hgvs_p": "p.Asn540fs",
"transcript": "ENST00000950781.1",
"protein_id": "ENSP00000620840.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 707,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950781.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1681_1685delAACCTinsGGG",
"hgvs_p": "p.Asn561fs",
"transcript": "NM_001413876.1",
"protein_id": "NP_001400805.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 701,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413876.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1681_1685delAACCTinsGGG",
"hgvs_p": "p.Asn561fs",
"transcript": "NM_001413877.1",
"protein_id": "NP_001400806.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 701,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413877.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1681_1685delAACCTinsGGG",
"hgvs_p": "p.Asn561fs",
"transcript": "ENST00000887936.1",
"protein_id": "ENSP00000557995.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 701,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887936.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1681_1685delAACCTinsGGG",
"hgvs_p": "p.Asn561fs",
"transcript": "ENST00000950794.1",
"protein_id": "ENSP00000620853.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 701,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950794.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1678_1682delAACCTinsGGG",
"hgvs_p": "p.Asn560fs",
"transcript": "NM_001413878.1",
"protein_id": "NP_001400807.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 700,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413878.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1678_1682delAACCTinsGGG",
"hgvs_p": "p.Asn560fs",
"transcript": "ENST00000887952.1",
"protein_id": "ENSP00000558011.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 700,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887952.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1675_1679delAACCTinsGGG",
"hgvs_p": "p.Asn559fs",
"transcript": "NM_001413879.1",
"protein_id": "NP_001400808.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 699,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413879.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1675_1679delAACCTinsGGG",
"hgvs_p": "p.Asn559fs",
"transcript": "ENST00000887941.1",
"protein_id": "ENSP00000558000.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 699,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887941.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1666_1670delAACCTinsGGG",
"hgvs_p": "p.Asn556fs",
"transcript": "NM_001413880.1",
"protein_id": "NP_001400809.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 696,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413880.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1666_1670delAACCTinsGGG",
"hgvs_p": "p.Asn556fs",
"transcript": "NM_001413881.1",
"protein_id": "NP_001400810.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 696,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413881.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1666_1670delAACCTinsGGG",
"hgvs_p": "p.Asn556fs",
"transcript": "ENST00000887928.1",
"protein_id": "ENSP00000557987.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 696,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887928.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1666_1670delAACCTinsGGG",
"hgvs_p": "p.Asn556fs",
"transcript": "ENST00000887969.1",
"protein_id": "ENSP00000558028.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 696,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887969.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1666_1670delAACCTinsGGG",
"hgvs_p": "p.Asn556fs",
"transcript": "ENST00000913380.1",
"protein_id": "ENSP00000583439.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 696,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913380.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1663_1667delAACCTinsGGG",
"hgvs_p": "p.Asn555fs",
"transcript": "NM_001413882.1",
"protein_id": "NP_001400811.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 695,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413882.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1663_1667delAACCTinsGGG",
"hgvs_p": "p.Asn555fs",
"transcript": "ENST00000887939.1",
"protein_id": "ENSP00000557998.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 695,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887939.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1663_1667delAACCTinsGGG",
"hgvs_p": "p.Asn555fs",
"transcript": "ENST00000887940.1",
"protein_id": "ENSP00000557999.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 695,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887940.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1663_1667delAACCTinsGGG",
"hgvs_p": "p.Asn555fs",
"transcript": "ENST00000950779.1",
"protein_id": "ENSP00000620838.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 695,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950779.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1648_1652delAACCTinsGGG",
"hgvs_p": "p.Asn550fs",
"transcript": "NM_001413883.1",
"protein_id": "NP_001400812.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 690,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413883.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1645_1649delAACCTinsGGG",
"hgvs_p": "p.Asn549fs",
"transcript": "NM_001413884.1",
"protein_id": "NP_001400813.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 689,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413884.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1639_1643delAACCTinsGGG",
"hgvs_p": "p.Asn547fs",
"transcript": "ENST00000950780.1",
"protein_id": "ENSP00000620839.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 687,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950780.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1636_1640delAACCTinsGGG",
"hgvs_p": "p.Asn546fs",
"transcript": "NM_001413885.1",
"protein_id": "NP_001400814.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 686,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413885.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1627_1631delAACCTinsGGG",
"hgvs_p": "p.Asn543fs",
"transcript": "ENST00000950793.1",
"protein_id": "ENSP00000620852.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 683,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950793.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1624_1628delAACCTinsGGG",
"hgvs_p": "p.Asn542fs",
"transcript": "NM_001413886.1",
"protein_id": "NP_001400815.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 682,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413886.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1624_1628delAACCTinsGGG",
"hgvs_p": "p.Asn542fs",
"transcript": "NM_001413887.1",
"protein_id": "NP_001400816.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 682,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413887.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1624_1628delAACCTinsGGG",
"hgvs_p": "p.Asn542fs",
"transcript": "ENST00000887932.1",
"protein_id": "ENSP00000557991.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 682,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887932.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1624_1628delAACCTinsGGG",
"hgvs_p": "p.Asn542fs",
"transcript": "ENST00000887963.1",
"protein_id": "ENSP00000558022.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 682,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887963.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1621_1625delAACCTinsGGG",
"hgvs_p": "p.Asn541fs",
"transcript": "NM_001413888.1",
"protein_id": "NP_001400817.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 681,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413888.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1621_1625delAACCTinsGGG",
"hgvs_p": "p.Asn541fs",
"transcript": "ENST00000887929.1",
"protein_id": "ENSP00000557988.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 681,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887929.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1621_1625delAACCTinsGGG",
"hgvs_p": "p.Asn541fs",
"transcript": "ENST00000950784.1",
"protein_id": "ENSP00000620843.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 681,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950784.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1618_1622delAACCTinsGGG",
"hgvs_p": "p.Asn540fs",
"transcript": "ENST00000950776.1",
"protein_id": "ENSP00000620835.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 680,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950776.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1609_1613delAACCTinsGGG",
"hgvs_p": "p.Asn537fs",
"transcript": "NM_001413889.1",
"protein_id": "NP_001400818.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 677,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413889.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1603_1607delAACCTinsGGG",
"hgvs_p": "p.Asn535fs",
"transcript": "NM_001413890.1",
"protein_id": "NP_001400819.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 675,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413890.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs",
"transcript": "NM_001413891.1",
"protein_id": "NP_001400820.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 674,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413891.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1849_1853delAACCTinsGGG",
"hgvs_p": "p.Asn617fs",
"transcript": "NM_001413893.1",
"protein_id": "NP_001400822.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413893.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1594_1598delAACCTinsGGG",
"hgvs_p": "p.Asn532fs",
"transcript": "ENST00000887968.1",
"protein_id": "ENSP00000558027.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 672,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887968.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1591_1595delAACCTinsGGG",
"hgvs_p": "p.Asn531fs",
"transcript": "NM_001413894.1",
"protein_id": "NP_001400823.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 671,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413894.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1573_1577delAACCTinsGGG",
"hgvs_p": "p.Asn525fs",
"transcript": "ENST00000887937.1",
"protein_id": "ENSP00000557996.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 665,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887937.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1564_1568delAACCTinsGGG",
"hgvs_p": "p.Asn522fs",
"transcript": "ENST00000887944.1",
"protein_id": "ENSP00000558003.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 662,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887944.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1561_1565delAACCTinsGGG",
"hgvs_p": "p.Asn521fs",
"transcript": "ENST00000887951.1",
"protein_id": "ENSP00000558010.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 661,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887951.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1546_1550delAACCTinsGGG",
"hgvs_p": "p.Asn516fs",
"transcript": "NM_001413895.1",
"protein_id": "NP_001400824.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 656,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413895.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1795_1799delAACCTinsGGG",
"hgvs_p": "p.Asn599fs",
"transcript": "NM_001413896.1",
"protein_id": "NP_001400825.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 655,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413896.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1522_1526delAACCTinsGGG",
"hgvs_p": "p.Asn508fs",
"transcript": "ENST00000950788.1",
"protein_id": "ENSP00000620847.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 648,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950788.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1723_1727delAACCTinsGGG",
"hgvs_p": "p.Asn575fs",
"transcript": "NM_001413897.1",
"protein_id": "NP_001400826.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 631,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413897.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1453_1457delAACCTinsGGG",
"hgvs_p": "p.Asn485fs",
"transcript": "NM_001413898.1",
"protein_id": "NP_001400827.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 625,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413898.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1408_1412delAACCTinsGGG",
"hgvs_p": "p.Asn470fs",
"transcript": "ENST00000950790.1",
"protein_id": "ENSP00000620849.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 610,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950790.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1375_1379delAACCTinsGGG",
"hgvs_p": "p.Asn459fs",
"transcript": "NM_001413899.1",
"protein_id": "NP_001400828.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 599,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413899.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1366_1370delAACCTinsGGG",
"hgvs_p": "p.Asn456fs",
"transcript": "NM_001413900.1",
"protein_id": "NP_001400829.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 596,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413900.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1366_1370delAACCTinsGGG",
"hgvs_p": "p.Asn456fs",
"transcript": "ENST00000887958.1",
"protein_id": "ENSP00000558017.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 596,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887958.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1318_1322delAACCTinsGGG",
"hgvs_p": "p.Asn440fs",
"transcript": "ENST00000950791.1",
"protein_id": "ENSP00000620850.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 580,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950791.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1243_1247delAACCTinsGGG",
"hgvs_p": "p.Asn415fs",
"transcript": "ENST00000887976.1",
"protein_id": "ENSP00000558035.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 555,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887976.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1240_1244delAACCTinsGGG",
"hgvs_p": "p.Asn414fs",
"transcript": "NM_001413909.1",
"protein_id": "NP_001400838.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 554,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413909.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1198_1202delAACCTinsGGG",
"hgvs_p": "p.Asn400fs",
"transcript": "NM_001413901.1",
"protein_id": "NP_001400830.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 540,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413901.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1198_1202delAACCTinsGGG",
"hgvs_p": "p.Asn400fs",
"transcript": "ENST00000887967.1",
"protein_id": "ENSP00000558026.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 540,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887967.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1177_1181delAACCTinsGGG",
"hgvs_p": "p.Asn393fs",
"transcript": "ENST00000887957.1",
"protein_id": "ENSP00000558016.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 533,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887957.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.910_914delAACCTinsGGG",
"hgvs_p": "p.Asn304fs",
"transcript": "ENST00000887965.1",
"protein_id": "ENSP00000558024.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 444,
"cds_start": 910,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887965.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1897_1901delAACCTinsGGG",
"hgvs_p": "p.Asn633fs",
"transcript": "XM_017013419.2",
"protein_id": "XP_016868908.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 800,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013419.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1894_1898delAACCTinsGGG",
"hgvs_p": "p.Asn632fs",
"transcript": "XM_017013420.2",
"protein_id": "XP_016868909.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 799,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013420.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1810_1814delAACCTinsGGG",
"hgvs_p": "p.Asn604fs",
"transcript": "XM_017013426.2",
"protein_id": "XP_016868915.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 771,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013426.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1807_1811delAACCTinsGGG",
"hgvs_p": "p.Asn603fs",
"transcript": "XM_017013427.2",
"protein_id": "XP_016868916.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 770,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013427.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1768_1772delAACCTinsGGG",
"hgvs_p": "p.Asn590fs",
"transcript": "XM_017013430.2",
"protein_id": "XP_016868919.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 757,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013430.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1765_1769delAACCTinsGGG",
"hgvs_p": "p.Asn589fs",
"transcript": "XM_017013431.2",
"protein_id": "XP_016868920.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 756,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013431.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1750_1754delAACCTinsGGG",
"hgvs_p": "p.Asn584fs",
"transcript": "XM_017013435.2",
"protein_id": "XP_016868924.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 751,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013435.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1762_1766delAACCTinsGGG",
"hgvs_p": "p.Asn588fs",
"transcript": "XM_017013439.2",
"protein_id": "XP_016868928.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 728,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013439.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1681_1685delAACCTinsGGG",
"hgvs_p": "p.Asn561fs",
"transcript": "XM_017013440.2",
"protein_id": "XP_016868929.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 728,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013440.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1750_1754delAACCTinsGGG",
"hgvs_p": "p.Asn584fs",
"transcript": "XM_005251244.2",
"protein_id": "XP_005251301.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 724,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251244.2"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1708_1712delAACCTinsGGG",
"hgvs_p": "p.Asn570fs",
"transcript": "XM_047421791.1",
"protein_id": "XP_047277747.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 710,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421791.1"
},
{
"aa_ref": "NL",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1636_1640delAACCTinsGGG",
"hgvs_p": "p.Asn546fs",
"transcript": "XM_017013444.2",
"protein_id": "XP_016868933.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 686,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013444.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "n.62_66delAACCTinsGGG",
"hgvs_p": null,
"transcript": "ENST00000521909.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521909.1"
}
],
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"dbsnp": "rs879255574",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.686,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001413844.1",
"gene_symbol": "ASPH",
"hgnc_id": 757,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1852_1856delAACCTinsGGG",
"hgvs_p": "p.Asn618fs"
}
],
"clinvar_disease": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}