← 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: 11-3825040-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3825040&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3825040,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000278243.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.732dupA",
"hgvs_p": "p.Gln245fs",
"transcript": "NM_014489.4",
"protein_id": "NP_055304.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 315,
"cds_start": 733,
"cds_end": null,
"cds_length": 948,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": "ENST00000278243.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.732dupA",
"hgvs_p": "p.Gln245fs",
"transcript": "ENST00000278243.9",
"protein_id": "ENSP00000278243.4",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 315,
"cds_start": 733,
"cds_end": null,
"cds_length": 948,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": "NM_014489.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.708dupA",
"hgvs_p": "p.Gln237fs",
"transcript": "ENST00000300730.10",
"protein_id": "ENSP00000300730.6",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 307,
"cds_start": 709,
"cds_end": null,
"cds_length": 924,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.81dupA",
"hgvs_p": "p.Gln28fs",
"transcript": "ENST00000396993.8",
"protein_id": "ENSP00000380190.6",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 98,
"cds_start": 82,
"cds_end": null,
"cds_length": 297,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*463dupA",
"hgvs_p": null,
"transcript": "ENST00000528216.5",
"protein_id": "ENSP00000432215.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*463dupA",
"hgvs_p": null,
"transcript": "ENST00000528216.5",
"protein_id": "ENSP00000432215.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.732dupA",
"hgvs_p": "p.Gln245fs",
"transcript": "NM_001256236.2",
"protein_id": "NP_001243165.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 315,
"cds_start": 733,
"cds_end": null,
"cds_length": 948,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.732dupA",
"hgvs_p": "p.Gln245fs",
"transcript": "ENST00000464906.6",
"protein_id": "ENSP00000434631.2",
"transcript_support_level": 2,
"aa_start": 245,
"aa_end": null,
"aa_length": 315,
"cds_start": 733,
"cds_end": null,
"cds_length": 948,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.720dupA",
"hgvs_p": "p.Gln241fs",
"transcript": "ENST00000396986.6",
"protein_id": "ENSP00000380183.2",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 311,
"cds_start": 721,
"cds_end": null,
"cds_length": 936,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.702dupA",
"hgvs_p": "p.Gln235fs",
"transcript": "NM_001346397.2",
"protein_id": "NP_001333326.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 305,
"cds_start": 703,
"cds_end": null,
"cds_length": 918,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.811dupA",
"hgvs_p": "p.Thr271fs",
"transcript": "NM_001346403.1",
"protein_id": "NP_001333332.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 295,
"cds_start": 812,
"cds_end": null,
"cds_length": 888,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.669dupA",
"hgvs_p": "p.Gln224fs",
"transcript": "NM_001346402.2",
"protein_id": "NP_001333331.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 294,
"cds_start": 670,
"cds_end": null,
"cds_length": 885,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.603dupA",
"hgvs_p": "p.Gln202fs",
"transcript": "NM_001256235.2",
"protein_id": "NP_001243164.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 272,
"cds_start": 604,
"cds_end": null,
"cds_length": 819,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.603dupA",
"hgvs_p": "p.Gln202fs",
"transcript": "ENST00000396991.6",
"protein_id": "ENSP00000380188.3",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 272,
"cds_start": 604,
"cds_end": null,
"cds_length": 819,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.549dupA",
"hgvs_p": "p.Gln184fs",
"transcript": "NM_001256240.2",
"protein_id": "NP_001243169.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 254,
"cds_start": 550,
"cds_end": null,
"cds_length": 765,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.549dupA",
"hgvs_p": "p.Gln184fs",
"transcript": "NM_001283038.2",
"protein_id": "NP_001269967.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 254,
"cds_start": 550,
"cds_end": null,
"cds_length": 765,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.549dupA",
"hgvs_p": "p.Gln184fs",
"transcript": "NM_001346398.2",
"protein_id": "NP_001333327.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 254,
"cds_start": 550,
"cds_end": null,
"cds_length": 765,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.549dupA",
"hgvs_p": "p.Gln184fs",
"transcript": "NM_001346405.1",
"protein_id": "NP_001333334.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 254,
"cds_start": 550,
"cds_end": null,
"cds_length": 765,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.549dupA",
"hgvs_p": "p.Gln184fs",
"transcript": "ENST00000463452.6",
"protein_id": "ENSP00000435223.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 254,
"cds_start": 550,
"cds_end": null,
"cds_length": 765,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.537dupA",
"hgvs_p": "p.Gln180fs",
"transcript": "NM_001145438.3",
"protein_id": "NP_001138910.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 250,
"cds_start": 538,
"cds_end": null,
"cds_length": 753,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.537dupA",
"hgvs_p": "p.Gln180fs",
"transcript": "NM_001256239.2",
"protein_id": "NP_001243168.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 250,
"cds_start": 538,
"cds_end": null,
"cds_length": 753,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.537dupA",
"hgvs_p": "p.Gln180fs",
"transcript": "NM_001346400.2",
"protein_id": "NP_001333329.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 250,
"cds_start": 538,
"cds_end": null,
"cds_length": 753,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.537dupA",
"hgvs_p": "p.Gln180fs",
"transcript": "ENST00000469307.4",
"protein_id": "ENSP00000434507.1",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 244,
"cds_start": 538,
"cds_end": null,
"cds_length": 735,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.628dupA",
"hgvs_p": "p.Thr210fs",
"transcript": "NM_001256237.2",
"protein_id": "NP_001243166.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 234,
"cds_start": 629,
"cds_end": null,
"cds_length": 705,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.628dupA",
"hgvs_p": "p.Thr210fs",
"transcript": "NM_001346404.1",
"protein_id": "NP_001333333.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 234,
"cds_start": 629,
"cds_end": null,
"cds_length": 705,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.628dupA",
"hgvs_p": "p.Thr210fs",
"transcript": "ENST00000464261.5",
"protein_id": "ENSP00000434088.2",
"transcript_support_level": 3,
"aa_start": 210,
"aa_end": null,
"aa_length": 234,
"cds_start": 629,
"cds_end": null,
"cds_length": 705,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.622dupA",
"hgvs_p": "p.Thr208fs",
"transcript": "NM_001256238.2",
"protein_id": "NP_001243167.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 232,
"cds_start": 623,
"cds_end": null,
"cds_length": 699,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.622dupA",
"hgvs_p": "p.Thr208fs",
"transcript": "ENST00000493547.6",
"protein_id": "ENSP00000431851.1",
"transcript_support_level": 3,
"aa_start": 208,
"aa_end": null,
"aa_length": 232,
"cds_start": 623,
"cds_end": null,
"cds_length": 699,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.559dupA",
"hgvs_p": "p.Thr187fs",
"transcript": "NM_001346399.2",
"protein_id": "NP_001333328.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 211,
"cds_start": 560,
"cds_end": null,
"cds_length": 636,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.559dupA",
"hgvs_p": "p.Thr187fs",
"transcript": "ENST00000465307.6",
"protein_id": "ENSP00000434401.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 211,
"cds_start": 560,
"cds_end": null,
"cds_length": 636,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.547dupA",
"hgvs_p": "p.Thr183fs",
"transcript": "NM_001346401.2",
"protein_id": "NP_001333330.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 207,
"cds_start": 548,
"cds_end": null,
"cds_length": 624,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.472dupA",
"hgvs_p": "p.Thr158fs",
"transcript": "NM_001283039.2",
"protein_id": "NP_001269968.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 182,
"cds_start": 473,
"cds_end": null,
"cds_length": 549,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.472dupA",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000532523.5",
"protein_id": "ENSP00000433377.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 182,
"cds_start": 473,
"cds_end": null,
"cds_length": 549,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.292dupA",
"hgvs_p": "p.Thr98fs",
"transcript": "NM_001283040.1",
"protein_id": "NP_001269969.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 122,
"cds_start": 293,
"cds_end": null,
"cds_length": 369,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.81dupA",
"hgvs_p": "p.Gln28fs",
"transcript": "ENST00000464441.5",
"protein_id": "ENSP00000435799.3",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 98,
"cds_start": 82,
"cds_end": null,
"cds_length": 297,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.81dupA",
"hgvs_p": "p.Gln28fs",
"transcript": "ENST00000496834.6",
"protein_id": "ENSP00000432721.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 98,
"cds_start": 82,
"cds_end": null,
"cds_length": 297,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.69dupA",
"hgvs_p": "p.Gln24fs",
"transcript": "ENST00000464229.5",
"protein_id": "ENSP00000434772.2",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 94,
"cds_start": 70,
"cds_end": null,
"cds_length": 285,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.69dupA",
"hgvs_p": "p.Gln24fs",
"transcript": "ENST00000479072.5",
"protein_id": "ENSP00000435338.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 94,
"cds_start": 70,
"cds_end": null,
"cds_length": 285,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.160dupA",
"hgvs_p": "p.Thr54fs",
"transcript": "ENST00000490830.5",
"protein_id": "ENSP00000435703.2",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 78,
"cds_start": 161,
"cds_end": null,
"cds_length": 237,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.900dupA",
"hgvs_p": "p.Gln301fs",
"transcript": "XM_011519992.2",
"protein_id": "XP_011518294.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 371,
"cds_start": 901,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.891dupA",
"hgvs_p": "p.Gln298fs",
"transcript": "XM_047426777.1",
"protein_id": "XP_047282733.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 368,
"cds_start": 892,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.888dupA",
"hgvs_p": "p.Gln297fs",
"transcript": "XM_047426778.1",
"protein_id": "XP_047282734.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 367,
"cds_start": 889,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.885dupA",
"hgvs_p": "p.Gln296fs",
"transcript": "XM_011520004.3",
"protein_id": "XP_011518306.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 366,
"cds_start": 886,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.852dupA",
"hgvs_p": "p.Gln285fs",
"transcript": "XM_011519996.2",
"protein_id": "XP_011518298.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 355,
"cds_start": 853,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.834dupA",
"hgvs_p": "p.Gln279fs",
"transcript": "XM_011519998.3",
"protein_id": "XP_011518300.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 349,
"cds_start": 835,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.834dupA",
"hgvs_p": "p.Gln279fs",
"transcript": "XM_011519999.2",
"protein_id": "XP_011518301.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 349,
"cds_start": 835,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.813dupA",
"hgvs_p": "p.Gln272fs",
"transcript": "XM_047426780.1",
"protein_id": "XP_047282736.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 342,
"cds_start": 814,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.735dupA",
"hgvs_p": "p.Gln246fs",
"transcript": "XM_006718181.4",
"protein_id": "XP_006718244.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 736,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.732dupA",
"hgvs_p": "p.Gln245fs",
"transcript": "XM_011519990.3",
"protein_id": "XP_011518292.3",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 315,
"cds_start": 733,
"cds_end": null,
"cds_length": 948,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.720dupA",
"hgvs_p": "p.Gln241fs",
"transcript": "XM_011519991.3",
"protein_id": "XP_011518293.3",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 311,
"cds_start": 721,
"cds_end": null,
"cds_length": 936,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.720dupA",
"hgvs_p": "p.Gln241fs",
"transcript": "XM_047426781.1",
"protein_id": "XP_047282737.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 311,
"cds_start": 721,
"cds_end": null,
"cds_length": 936,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.805dupA",
"hgvs_p": "p.Thr269fs",
"transcript": "XM_047426776.1",
"protein_id": "XP_047282732.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 293,
"cds_start": 806,
"cds_end": null,
"cds_length": 882,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.630dupA",
"hgvs_p": "p.Gln211fs",
"transcript": "XM_006718185.3",
"protein_id": "XP_006718248.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 281,
"cds_start": 631,
"cds_end": null,
"cds_length": 846,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.618dupA",
"hgvs_p": "p.Gln207fs",
"transcript": "XM_047426782.1",
"protein_id": "XP_047282738.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 277,
"cds_start": 619,
"cds_end": null,
"cds_length": 834,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.612dupA",
"hgvs_p": "p.Gln205fs",
"transcript": "XM_047426788.1",
"protein_id": "XP_047282744.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 275,
"cds_start": 613,
"cds_end": null,
"cds_length": 828,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.603dupA",
"hgvs_p": "p.Gln202fs",
"transcript": "XM_047426779.1",
"protein_id": "XP_047282735.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 272,
"cds_start": 604,
"cds_end": null,
"cds_length": 819,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.603dupA",
"hgvs_p": "p.Gln202fs",
"transcript": "XM_047426783.1",
"protein_id": "XP_047282739.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 272,
"cds_start": 604,
"cds_end": null,
"cds_length": 819,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.591dupA",
"hgvs_p": "p.Gln198fs",
"transcript": "XM_024448443.2",
"protein_id": "XP_024304211.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 268,
"cds_start": 592,
"cds_end": null,
"cds_length": 807,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.591dupA",
"hgvs_p": "p.Gln198fs",
"transcript": "XM_024448444.2",
"protein_id": "XP_024304212.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 268,
"cds_start": 592,
"cds_end": null,
"cds_length": 807,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.712dupA",
"hgvs_p": "p.Thr238fs",
"transcript": "XM_047426784.1",
"protein_id": "XP_047282740.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 262,
"cds_start": 713,
"cds_end": null,
"cds_length": 789,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.700dupA",
"hgvs_p": "p.Thr234fs",
"transcript": "XM_047426785.1",
"protein_id": "XP_047282741.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 258,
"cds_start": 701,
"cds_end": null,
"cds_length": 777,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.552dupA",
"hgvs_p": "p.Gln185fs",
"transcript": "XM_047426786.1",
"protein_id": "XP_047282742.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 255,
"cds_start": 553,
"cds_end": null,
"cds_length": 768,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.552dupA",
"hgvs_p": "p.Gln185fs",
"transcript": "XM_047426787.1",
"protein_id": "XP_047282743.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 255,
"cds_start": 553,
"cds_end": null,
"cds_length": 768,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.537dupA",
"hgvs_p": "p.Gln180fs",
"transcript": "XM_011520002.2",
"protein_id": "XP_011518304.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 250,
"cds_start": 538,
"cds_end": null,
"cds_length": 753,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.655dupA",
"hgvs_p": "p.Thr219fs",
"transcript": "XM_047426793.1",
"protein_id": "XP_047282749.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 243,
"cds_start": 656,
"cds_end": null,
"cds_length": 732,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.559dupA",
"hgvs_p": "p.Thr187fs",
"transcript": "XM_047426789.1",
"protein_id": "XP_047282745.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 211,
"cds_start": 560,
"cds_end": null,
"cds_length": 636,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.559dupA",
"hgvs_p": "p.Thr187fs",
"transcript": "XM_047426790.1",
"protein_id": "XP_047282746.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 211,
"cds_start": 560,
"cds_end": null,
"cds_length": 636,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.559dupA",
"hgvs_p": "p.Thr187fs",
"transcript": "XM_047426791.1",
"protein_id": "XP_047282747.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 211,
"cds_start": 560,
"cds_end": null,
"cds_length": 636,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.547dupA",
"hgvs_p": "p.Thr183fs",
"transcript": "XM_047426792.1",
"protein_id": "XP_047282748.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 207,
"cds_start": 548,
"cds_end": null,
"cds_length": 624,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*38dupA",
"hgvs_p": null,
"transcript": "ENST00000475884.5",
"protein_id": "ENSP00000437203.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*50dupA",
"hgvs_p": null,
"transcript": "ENST00000477358.6",
"protein_id": "ENSP00000432123.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.629dupA",
"hgvs_p": null,
"transcript": "ENST00000525937.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.473dupA",
"hgvs_p": null,
"transcript": "ENST00000528526.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*687dupA",
"hgvs_p": null,
"transcript": "ENST00000532017.5",
"protein_id": "ENSP00000481391.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.476dupA",
"hgvs_p": null,
"transcript": "NR_027016.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.1093dupA",
"hgvs_p": null,
"transcript": "NR_027017.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.697dupA",
"hgvs_p": null,
"transcript": "NR_027018.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.491dupA",
"hgvs_p": null,
"transcript": "NR_045923.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.401dupA",
"hgvs_p": null,
"transcript": "NR_045925.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.413dupA",
"hgvs_p": null,
"transcript": "NR_045926.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.570dupA",
"hgvs_p": null,
"transcript": "NR_045927.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.592dupA",
"hgvs_p": null,
"transcript": "NR_045929.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.479dupA",
"hgvs_p": null,
"transcript": "NR_104270.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.739dupA",
"hgvs_p": null,
"transcript": "NR_104271.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.464dupA",
"hgvs_p": null,
"transcript": "NR_104272.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.564dupA",
"hgvs_p": null,
"transcript": "NR_144427.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.1008dupA",
"hgvs_p": null,
"transcript": "NR_144428.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.760dupA",
"hgvs_p": null,
"transcript": "NR_144429.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.223dupA",
"hgvs_p": null,
"transcript": "NR_144430.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*38dupA",
"hgvs_p": null,
"transcript": "ENST00000475884.5",
"protein_id": "ENSP00000437203.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*50dupA",
"hgvs_p": null,
"transcript": "ENST00000477358.6",
"protein_id": "ENSP00000432123.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*687dupA",
"hgvs_p": null,
"transcript": "ENST00000532017.5",
"protein_id": "ENSP00000481391.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*4_*5insA",
"hgvs_p": null,
"transcript": "ENST00000478773.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*178_*179insA",
"hgvs_p": null,
"transcript": "ENST00000485602.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"dbsnp": "rs771218491",
"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": 0,
"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": 8.221,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000278243.9",
"gene_symbol": "PGAP2",
"hgnc_id": 17893,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.732dupA",
"hgvs_p": "p.Gln245fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}