← 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: 11-65536072-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65536072&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65536072,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_020680.4",
"consequences": [
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_020680.4",
"protein_id": "NP_065731.3",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 808,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "ENST00000270176.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020680.4"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000270176.10",
"protein_id": "ENSP00000270176.5",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 808,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "NM_020680.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270176.10"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000420247.6",
"protein_id": "ENSP00000408192.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 791,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420247.6"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000524944.5",
"protein_id": "ENSP00000432175.1",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524944.5"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872768.1",
"protein_id": "ENSP00000542827.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 819,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872768.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000939459.1",
"protein_id": "ENSP00000609518.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 814,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939459.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425179.1",
"protein_id": "NP_001412108.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 807,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425179.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1506_1507delTG",
"hgvs_p": "p.Ala503fs",
"transcript": "NM_001425180.1",
"protein_id": "NP_001412109.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 807,
"cds_start": 1506,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425180.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425181.1",
"protein_id": "NP_001412110.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 807,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425181.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872762.1",
"protein_id": "ENSP00000542821.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 807,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872762.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1506_1507delTG",
"hgvs_p": "p.Ala503fs",
"transcript": "ENST00000939456.1",
"protein_id": "ENSP00000609515.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 807,
"cds_start": 1506,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939456.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425182.1",
"protein_id": "NP_001412111.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 806,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425182.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872776.1",
"protein_id": "ENSP00000542835.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 806,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872776.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1506_1507delTG",
"hgvs_p": "p.Ala503fs",
"transcript": "ENST00000872781.1",
"protein_id": "ENSP00000542840.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 806,
"cds_start": 1506,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872781.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000939455.1",
"protein_id": "ENSP00000609514.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 806,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939455.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872771.1",
"protein_id": "ENSP00000542830.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 798,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872771.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971861.1",
"protein_id": "ENSP00000641920.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 796,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971861.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872775.1",
"protein_id": "ENSP00000542834.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 794,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872775.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001048218.2",
"protein_id": "NP_001041683.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 791,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048218.2"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1506_1507delTG",
"hgvs_p": "p.Ala503fs",
"transcript": "NM_001425183.1",
"protein_id": "NP_001412112.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 790,
"cds_start": 1506,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425183.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425184.1",
"protein_id": "NP_001412113.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 790,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425184.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872763.1",
"protein_id": "ENSP00000542822.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 790,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872763.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1455_1456delTG",
"hgvs_p": "p.Ala486fs",
"transcript": "ENST00000872764.1",
"protein_id": "ENSP00000542823.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 790,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872764.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1506_1507delTG",
"hgvs_p": "p.Ala503fs",
"transcript": "ENST00000872770.1",
"protein_id": "ENSP00000542829.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 790,
"cds_start": 1506,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872770.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872766.1",
"protein_id": "ENSP00000542825.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 788,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872766.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425185.1",
"protein_id": "NP_001412114.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 787,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425185.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000533862.5",
"protein_id": "ENSP00000437254.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 787,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533862.5"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971872.1",
"protein_id": "ENSP00000641931.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 787,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971872.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425186.1",
"protein_id": "NP_001412115.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 786,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425186.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1431_1432delTG",
"hgvs_p": "p.Ala478fs",
"transcript": "NM_001425187.1",
"protein_id": "NP_001412116.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 782,
"cds_start": 1431,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425187.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1431_1432delTG",
"hgvs_p": "p.Ala478fs",
"transcript": "ENST00000872783.1",
"protein_id": "ENSP00000542842.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 782,
"cds_start": 1431,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872783.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425188.1",
"protein_id": "NP_001412117.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 781,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425188.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971862.1",
"protein_id": "ENSP00000641921.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 781,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971862.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001411022.1",
"protein_id": "NP_001397951.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 780,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411022.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1425_1426delTG",
"hgvs_p": "p.Ala476fs",
"transcript": "NM_001425189.1",
"protein_id": "NP_001412118.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 780,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425189.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425190.1",
"protein_id": "NP_001412119.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 780,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425190.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000525364.5",
"protein_id": "ENSP00000431635.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 780,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525364.5"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1425_1426delTG",
"hgvs_p": "p.Ala476fs",
"transcript": "ENST00000872773.1",
"protein_id": "ENSP00000542832.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 780,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872773.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1422_1423delTG",
"hgvs_p": "p.Ala475fs",
"transcript": "ENST00000939460.1",
"protein_id": "ENSP00000609519.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 779,
"cds_start": 1422,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939460.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971864.1",
"protein_id": "ENSP00000641923.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 778,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971864.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971869.1",
"protein_id": "ENSP00000641928.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 777,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971869.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1455_1456delTG",
"hgvs_p": "p.Ala486fs",
"transcript": "ENST00000872778.1",
"protein_id": "ENSP00000542837.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 773,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872778.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872774.1",
"protein_id": "ENSP00000542833.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 771,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872774.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1395_1396delTG",
"hgvs_p": "p.Ala466fs",
"transcript": "NM_001425191.1",
"protein_id": "NP_001412120.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 770,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425191.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425192.1",
"protein_id": "NP_001412121.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 770,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425192.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1395_1396delTG",
"hgvs_p": "p.Ala466fs",
"transcript": "ENST00000872779.1",
"protein_id": "ENSP00000542838.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 770,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872779.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1431_1432delTG",
"hgvs_p": "p.Ala478fs",
"transcript": "ENST00000939457.1",
"protein_id": "ENSP00000609516.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 765,
"cds_start": 1431,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939457.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425193.1",
"protein_id": "NP_001412122.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 764,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425193.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425194.1",
"protein_id": "NP_001412123.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 764,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425194.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971868.1",
"protein_id": "ENSP00000641927.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 764,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971868.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425195.1",
"protein_id": "NP_001412124.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 763,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425195.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872769.1",
"protein_id": "ENSP00000542828.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 763,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872769.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1425_1426delTG",
"hgvs_p": "p.Ala476fs",
"transcript": "ENST00000872772.1",
"protein_id": "ENSP00000542831.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 763,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872772.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425196.1",
"protein_id": "NP_001412125.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 762,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425196.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971867.1",
"protein_id": "ENSP00000641926.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 759,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971867.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872765.1",
"protein_id": "ENSP00000542824.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 758,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872765.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425197.1",
"protein_id": "NP_001412126.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 757,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425197.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872777.1",
"protein_id": "ENSP00000542836.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 757,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872777.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971865.1",
"protein_id": "ENSP00000641924.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 757,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971865.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1353_1354delTG",
"hgvs_p": "p.Ala452fs",
"transcript": "ENST00000872782.1",
"protein_id": "ENSP00000542841.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 756,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872782.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1386_1387delTG",
"hgvs_p": "p.Ala463fs",
"transcript": "ENST00000971863.1",
"protein_id": "ENSP00000641922.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 750,
"cds_start": 1386,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971863.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872767.1",
"protein_id": "ENSP00000542826.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 747,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872767.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425198.1",
"protein_id": "NP_001412127.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 745,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425198.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000872780.1",
"protein_id": "ENSP00000542839.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 741,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872780.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971866.1",
"protein_id": "ENSP00000641925.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 736,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971866.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971871.1",
"protein_id": "ENSP00000641930.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 736,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971871.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1254_1255delTG",
"hgvs_p": "p.Ala419fs",
"transcript": "NM_001425199.1",
"protein_id": "NP_001412128.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 723,
"cds_start": 1254,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425199.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1245_1246delTG",
"hgvs_p": "p.Ala416fs",
"transcript": "NM_001425200.1",
"protein_id": "NP_001412129.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 720,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425200.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425201.1",
"protein_id": "NP_001412130.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 709,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425201.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "ENST00000971870.1",
"protein_id": "ENSP00000641929.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 699,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971870.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs",
"transcript": "NM_001425202.1",
"protein_id": "NP_001412131.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 692,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425202.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1080_1081delTG",
"hgvs_p": "p.Ala361fs",
"transcript": "NM_001425203.1",
"protein_id": "NP_001412132.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 665,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425203.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1080_1081delTG",
"hgvs_p": "p.Ala361fs",
"transcript": "ENST00000527009.5",
"protein_id": "ENSP00000436993.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 665,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527009.5"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1080_1081delTG",
"hgvs_p": "p.Ala361fs",
"transcript": "NM_001425204.1",
"protein_id": "NP_001412133.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 664,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425204.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1080_1081delTG",
"hgvs_p": "p.Ala361fs",
"transcript": "NM_001425205.1",
"protein_id": "NP_001412134.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 648,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425205.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1080_1081delTG",
"hgvs_p": "p.Ala361fs",
"transcript": "NM_001425206.1",
"protein_id": "NP_001412135.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 647,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425206.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1191_1192delTG",
"hgvs_p": "p.Ala398fs",
"transcript": "ENST00000939458.1",
"protein_id": "ENSP00000609517.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 641,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939458.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1080_1081delTG",
"hgvs_p": "p.Ala361fs",
"transcript": "NM_001425207.1",
"protein_id": "NP_001412136.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 638,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425207.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.897_898delTG",
"hgvs_p": "p.Ala300fs",
"transcript": "NM_001425208.1",
"protein_id": "NP_001412137.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 604,
"cds_start": 897,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425208.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.897_898delTG",
"hgvs_p": "p.Ala300fs",
"transcript": "NM_001425209.1",
"protein_id": "NP_001412138.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 603,
"cds_start": 897,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425209.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.897_898delTG",
"hgvs_p": "p.Ala300fs",
"transcript": "NM_001425210.1",
"protein_id": "NP_001412139.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 587,
"cds_start": 897,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425210.1"
},
{
"aa_ref": "CA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.897_898delTG",
"hgvs_p": "p.Ala300fs",
"transcript": "NM_001425211.1",
"protein_id": "NP_001412140.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 577,
"cds_start": 897,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.375_376delTG",
"hgvs_p": null,
"transcript": "ENST00000524897.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524897.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.742_743delTG",
"hgvs_p": null,
"transcript": "ENST00000526454.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 954,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000526454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.314_315delTG",
"hgvs_p": null,
"transcript": "ENST00000529981.1",
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.336_337delTG",
"hgvs_p": null,
"transcript": "ENST00000531601.1",
"protein_id": "ENSP00000431664.1",
"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": 896,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-192_-191delTG",
"hgvs_p": null,
"transcript": "ENST00000528545.1",
"protein_id": "ENSP00000433604.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528545.1"
}
],
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"dbsnp": "rs864309665",
"frequency_reference_population": 0.000001368107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.668,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"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_020680.4",
"gene_symbol": "SCYL1",
"hgnc_id": 14372,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1509_1510delTG",
"hgvs_p": "p.Ala504fs"
}
],
"clinvar_disease": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}