← 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: 7-50382702-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50382702&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50382702,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410879.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "NM_006060.6",
"protein_id": "NP_006051.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331340.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006060.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000331340.8",
"protein_id": "ENSP00000331614.3",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006060.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331340.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000359197.9",
"protein_id": "ENSP00000352123.5",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359197.9"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000439701.2",
"protein_id": "ENSP00000413025.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439701.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.110-17216A>C",
"hgvs_p": null,
"transcript": "ENST00000426121.1",
"protein_id": "ENSP00000409588.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426121.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "NM_001410879.1",
"protein_id": "NP_001397808.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410879.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "ENST00000698574.1",
"protein_id": "ENSP00000513805.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698574.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "ENST00000858048.1",
"protein_id": "ENSP00000528107.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858048.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "ENST00000858050.1",
"protein_id": "ENSP00000528109.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858050.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "ENST00000858052.1",
"protein_id": "ENSP00000528111.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858052.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "ENST00000858065.1",
"protein_id": "ENSP00000528124.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858065.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858040.1",
"protein_id": "ENSP00000528099.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858040.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858044.1",
"protein_id": "ENSP00000528103.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858044.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858049.1",
"protein_id": "ENSP00000528108.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858049.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858062.1",
"protein_id": "ENSP00000528121.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858062.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858064.1",
"protein_id": "ENSP00000528123.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858064.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "ENST00000858051.1",
"protein_id": "ENSP00000528110.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 497,
"cds_start": 644,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858051.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "NM_001220765.3",
"protein_id": "NP_001207694.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220765.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "NM_001291837.2",
"protein_id": "NP_001278766.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291837.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858056.1",
"protein_id": "ENSP00000528115.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858056.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000971279.1",
"protein_id": "ENSP00000641338.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971279.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "ENST00000642219.2",
"protein_id": "ENSP00000496655.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 452,
"cds_start": 383,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642219.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "ENST00000858059.1",
"protein_id": "ENSP00000528118.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 452,
"cds_start": 383,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858059.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "NM_001220768.2",
"protein_id": "NP_001207697.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 432,
"cds_start": 584,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220768.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "NM_001291838.2",
"protein_id": "NP_001278767.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291838.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000438033.5",
"protein_id": "ENSP00000396554.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438033.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858039.1",
"protein_id": "ENSP00000528098.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858039.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858042.1",
"protein_id": "ENSP00000528101.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858042.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858045.1",
"protein_id": "ENSP00000528104.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858045.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858046.1",
"protein_id": "ENSP00000528105.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858046.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858047.1",
"protein_id": "ENSP00000528106.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 432,
"cds_start": 584,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858047.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858055.1",
"protein_id": "ENSP00000528114.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858055.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "ENST00000858057.1",
"protein_id": "ENSP00000528116.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 432,
"cds_start": 584,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858057.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "NM_001220767.2",
"protein_id": "NP_001207696.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 422,
"cds_start": 323,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220767.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "ENST00000858060.1",
"protein_id": "ENSP00000528119.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 410,
"cds_start": 383,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858060.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "NM_001291839.2",
"protein_id": "NP_001278768.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 390,
"cds_start": 323,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291839.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858041.1",
"protein_id": "ENSP00000528100.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 390,
"cds_start": 323,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858041.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858043.1",
"protein_id": "ENSP00000528102.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 390,
"cds_start": 323,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858043.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858053.1",
"protein_id": "ENSP00000528112.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 390,
"cds_start": 323,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858053.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858063.1",
"protein_id": "ENSP00000528122.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 390,
"cds_start": 323,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858063.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "NM_001220770.2",
"protein_id": "NP_001207699.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 380,
"cds_start": 323,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220770.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000698573.1",
"protein_id": "ENSP00000513804.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 345,
"cds_start": 323,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698573.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858054.1",
"protein_id": "ENSP00000528113.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 345,
"cds_start": 323,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858054.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000858058.1",
"protein_id": "ENSP00000528117.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 345,
"cds_start": 323,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858058.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "ENST00000645066.1",
"protein_id": "ENSP00000494055.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 169,
"cds_start": 323,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645066.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.716A>C",
"hgvs_p": "p.His239Pro",
"transcript": "XM_011515058.3",
"protein_id": "XP_011513360.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 563,
"cds_start": 716,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515058.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.716A>C",
"hgvs_p": "p.His239Pro",
"transcript": "XM_011515059.4",
"protein_id": "XP_011513361.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 553,
"cds_start": 716,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515059.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.674A>C",
"hgvs_p": "p.His225Pro",
"transcript": "XM_011515060.3",
"protein_id": "XP_011513362.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 549,
"cds_start": 674,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515060.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.His219Pro",
"transcript": "XM_011515061.4",
"protein_id": "XP_011513363.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 543,
"cds_start": 656,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515061.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_011515062.3",
"protein_id": "XP_011513364.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515062.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_011515063.3",
"protein_id": "XP_011513365.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515063.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_011515064.4",
"protein_id": "XP_011513366.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515064.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_011515065.3",
"protein_id": "XP_011513367.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 539,
"cds_start": 644,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515065.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.His219Pro",
"transcript": "XM_047419723.1",
"protein_id": "XP_047275679.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 533,
"cds_start": 656,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419723.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_047419724.1",
"protein_id": "XP_047275680.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 529,
"cds_start": 644,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419724.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.716A>C",
"hgvs_p": "p.His239Pro",
"transcript": "XM_011515067.4",
"protein_id": "XP_011513369.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 521,
"cds_start": 716,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515067.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419725.1",
"protein_id": "XP_047275681.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419725.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419726.1",
"protein_id": "XP_047275682.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 519,
"cds_start": 584,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419726.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.716A>C",
"hgvs_p": "p.His239Pro",
"transcript": "XM_047419727.1",
"protein_id": "XP_047275683.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 511,
"cds_start": 716,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419727.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419728.1",
"protein_id": "XP_047275684.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 509,
"cds_start": 584,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419728.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419729.1",
"protein_id": "XP_047275685.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 509,
"cds_start": 584,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419729.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.His219Pro",
"transcript": "XM_011515070.3",
"protein_id": "XP_011513372.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 501,
"cds_start": 656,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515070.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_047419730.1",
"protein_id": "XP_047275686.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 497,
"cds_start": 644,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419730.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.His219Pro",
"transcript": "XM_047419731.1",
"protein_id": "XP_047275687.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 491,
"cds_start": 656,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419731.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro",
"transcript": "XM_047419732.1",
"protein_id": "XP_047275688.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 487,
"cds_start": 644,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419732.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419733.1",
"protein_id": "XP_047275689.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419733.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419734.1",
"protein_id": "XP_047275690.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 477,
"cds_start": 584,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419734.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.455A>C",
"hgvs_p": "p.His152Pro",
"transcript": "XM_011515071.3",
"protein_id": "XP_011513373.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 476,
"cds_start": 455,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515071.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419735.1",
"protein_id": "XP_047275691.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 467,
"cds_start": 584,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419735.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419736.1",
"protein_id": "XP_047275692.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 467,
"cds_start": 584,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419736.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.His195Pro",
"transcript": "XM_047419738.1",
"protein_id": "XP_047275694.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 467,
"cds_start": 584,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419738.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.455A>C",
"hgvs_p": "p.His152Pro",
"transcript": "XM_047419739.1",
"protein_id": "XP_047275695.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 466,
"cds_start": 455,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419739.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.His132Pro",
"transcript": "XM_011515072.3",
"protein_id": "XP_011513374.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 456,
"cds_start": 395,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515072.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "XM_011515073.3",
"protein_id": "XP_011513375.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 452,
"cds_start": 383,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515073.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "XM_047419740.1",
"protein_id": "XP_047275696.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 452,
"cds_start": 383,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419740.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.His123Pro",
"transcript": "XM_047419741.1",
"protein_id": "XP_047275697.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 447,
"cds_start": 368,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419741.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.His123Pro",
"transcript": "XM_047419742.1",
"protein_id": "XP_047275698.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 447,
"cds_start": 368,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419742.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.His123Pro",
"transcript": "XM_047419743.1",
"protein_id": "XP_047275699.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 447,
"cds_start": 368,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419743.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.His132Pro",
"transcript": "XM_011515074.3",
"protein_id": "XP_011513376.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 446,
"cds_start": 395,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515074.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "XM_047419744.1",
"protein_id": "XP_047275700.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 442,
"cds_start": 383,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419744.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "XM_017011668.2",
"protein_id": "XP_016867157.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011668.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "XM_047419745.1",
"protein_id": "XP_047275701.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 432,
"cds_start": 323,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419745.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "XM_047419746.1",
"protein_id": "XP_047275702.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 422,
"cds_start": 323,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419746.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "XM_047419747.1",
"protein_id": "XP_047275703.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 422,
"cds_start": 323,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419747.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.His132Pro",
"transcript": "XM_011515077.3",
"protein_id": "XP_011513379.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 414,
"cds_start": 395,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515077.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.His128Pro",
"transcript": "XM_047419748.1",
"protein_id": "XP_047275704.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 410,
"cds_start": 383,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419748.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.His132Pro",
"transcript": "XM_011515078.3",
"protein_id": "XP_011513380.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 404,
"cds_start": 395,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515078.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.353A>C",
"hgvs_p": "p.His118Pro",
"transcript": "XM_047419749.1",
"protein_id": "XP_047275705.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 400,
"cds_start": 353,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419749.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.His108Pro",
"transcript": "XM_047419750.1",
"protein_id": "XP_047275706.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 380,
"cds_start": 323,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.221-4643A>C",
"hgvs_p": null,
"transcript": "ENST00000971280.1",
"protein_id": "ENSP00000641339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.421+5909A>C",
"hgvs_p": null,
"transcript": "NM_001220771.2",
"protein_id": "NP_001207700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220771.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.161-4643A>C",
"hgvs_p": null,
"transcript": "NM_001291841.1",
"protein_id": "NP_001278770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291841.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.421+5909A>C",
"hgvs_p": null,
"transcript": "ENST00000698575.1",
"protein_id": "ENSP00000513806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.161-4643A>C",
"hgvs_p": null,
"transcript": "NM_001291842.1",
"protein_id": "NP_001278771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.41-4643A>C",
"hgvs_p": null,
"transcript": "ENST00000615491.4",
"protein_id": "ENSP00000478368.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615491.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.161-9027A>C",
"hgvs_p": null,
"transcript": "NM_001291843.1",
"protein_id": "NP_001278772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291843.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.161-9027A>C",
"hgvs_p": null,
"transcript": "ENST00000858061.1",
"protein_id": "ENSP00000528120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.161-9027A>C",
"hgvs_p": null,
"transcript": "NM_001291844.1",
"protein_id": "NP_001278773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.161-17216A>C",
"hgvs_p": null,
"transcript": "NM_001291840.1",
"protein_id": "NP_001278769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "c.41-17216A>C",
"hgvs_p": null,
"transcript": "ENST00000346667.8",
"protein_id": "ENSP00000340080.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346667.8"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"hgvs_c": "n.803A>C",
"hgvs_p": null,
"transcript": "ENST00000471793.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471793.1"
}
],
"gene_symbol": "IKZF1",
"gene_hgnc_id": 13176,
"dbsnp": "rs1131690788",
"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": 0.9828237295150757,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.788,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.322,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001410879.1",
"gene_symbol": "IKZF1",
"hgnc_id": 13176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.644A>C",
"hgvs_p": "p.His215Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}