← 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: 12-48124481-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48124481&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48124481,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001354735.1",
"consequences": [
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_000289.6",
"protein_id": "NP_000280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359794.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000289.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000359794.11",
"protein_id": "ENSP00000352842.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000289.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359794.11"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000312352.11",
"protein_id": "ENSP00000309438.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312352.11"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000547587.5",
"protein_id": "ENSP00000449426.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547587.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.157+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000546964.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000546964.5"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354735.1",
"protein_id": "NP_001341664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": null,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354735.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354736.1",
"protein_id": "NP_001341665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": null,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354736.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000642730.1",
"protein_id": "ENSP00000496597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": null,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642730.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.307+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000550257.7",
"protein_id": "ENSP00000447997.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550257.7"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "NM_001166686.2",
"protein_id": "NP_001160158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166686.2"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354737.1",
"protein_id": "NP_001341666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354737.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354738.1",
"protein_id": "NP_001341667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354738.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354739.1",
"protein_id": "NP_001341668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354739.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000340802.12",
"protein_id": "ENSP00000345771.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340802.12"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.229+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354740.1",
"protein_id": "NP_001341669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354740.1"
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "NM_001439058.1",
"protein_id": "NP_001425987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": null,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439058.1"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942241.1",
"protein_id": "ENSP00000612300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": null,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942241.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942240.1",
"protein_id": "ENSP00000612299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": null,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942240.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942236.1",
"protein_id": "ENSP00000612295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942236.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873532.1",
"protein_id": "ENSP00000543591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873532.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.109+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354741.2",
"protein_id": "NP_001341670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354741.2"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942232.1",
"protein_id": "ENSP00000612291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 787,
"cds_start": null,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942232.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001166687.2",
"protein_id": "NP_001160159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166687.2"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001166688.2",
"protein_id": "NP_001160160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166688.2"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354742.2",
"protein_id": "NP_001341671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354742.2"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354743.2",
"protein_id": "NP_001341672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354743.2"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354744.2",
"protein_id": "NP_001341673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354744.2"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000550345.6",
"protein_id": "ENSP00000450369.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550345.6"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000550924.6",
"protein_id": "ENSP00000446945.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550924.6"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000551339.6",
"protein_id": "ENSP00000448253.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551339.6"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873520.1",
"protein_id": "ENSP00000543579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873520.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873523.1",
"protein_id": "ENSP00000543582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873523.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873524.1",
"protein_id": "ENSP00000543583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873524.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873525.1",
"protein_id": "ENSP00000543584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873525.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873526.1",
"protein_id": "ENSP00000543585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873526.1"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873527.1",
"protein_id": "ENSP00000543586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873527.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873528.1",
"protein_id": "ENSP00000543587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873528.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873535.1",
"protein_id": "ENSP00000543594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873535.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934924.1",
"protein_id": "ENSP00000604983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934924.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934925.1",
"protein_id": "ENSP00000604984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934925.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934926.1",
"protein_id": "ENSP00000604985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934926.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934927.1",
"protein_id": "ENSP00000604986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934927.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942221.1",
"protein_id": "ENSP00000612280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942221.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942222.1",
"protein_id": "ENSP00000612281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942222.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942224.1",
"protein_id": "ENSP00000612283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942224.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942229.1",
"protein_id": "ENSP00000612288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942229.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942230.1",
"protein_id": "ENSP00000612289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942230.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942231.1",
"protein_id": "ENSP00000612290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942231.1"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942244.1",
"protein_id": "ENSP00000612303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942244.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942246.1",
"protein_id": "ENSP00000612305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942246.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942247.1",
"protein_id": "ENSP00000612306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942247.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942233.1",
"protein_id": "ENSP00000612292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942233.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873531.1",
"protein_id": "ENSP00000543590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873531.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873537.1",
"protein_id": "ENSP00000543596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873537.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942245.1",
"protein_id": "ENSP00000612304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942245.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942250.1",
"protein_id": "ENSP00000612309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942250.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873518.1",
"protein_id": "ENSP00000543577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873518.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942235.1",
"protein_id": "ENSP00000612294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942235.1"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.-240-844A>C",
"hgvs_p": null,
"transcript": "NM_001354745.2",
"protein_id": "NP_001341674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354745.2"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001363619.2",
"protein_id": "NP_001350548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363619.2"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000551804.5",
"protein_id": "ENSP00000448177.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551804.5"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873517.1",
"protein_id": "ENSP00000543576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873517.1"
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873521.1",
"protein_id": "ENSP00000543580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873521.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873522.1",
"protein_id": "ENSP00000543581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873522.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873529.1",
"protein_id": "ENSP00000543588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873529.1"
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934928.1",
"protein_id": "ENSP00000604987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934928.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934931.1",
"protein_id": "ENSP00000604990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934931.1"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942223.1",
"protein_id": "ENSP00000612282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942223.1"
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942228.1",
"protein_id": "ENSP00000612287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942228.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942239.1",
"protein_id": "ENSP00000612298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942239.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942248.1",
"protein_id": "ENSP00000612307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942248.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942254.1",
"protein_id": "ENSP00000612313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942254.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354746.2",
"protein_id": "NP_001341675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354746.2"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873530.1",
"protein_id": "ENSP00000543589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873530.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873538.1",
"protein_id": "ENSP00000543597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873538.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942226.1",
"protein_id": "ENSP00000612285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942226.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942252.1",
"protein_id": "ENSP00000612311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942252.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942242.1",
"protein_id": "ENSP00000612301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942242.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873536.1",
"protein_id": "ENSP00000543595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873536.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942237.1",
"protein_id": "ENSP00000612296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942237.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.9+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354747.2",
"protein_id": "NP_001341676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354747.2"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.9+1622A>C",
"hgvs_p": null,
"transcript": "NM_001354748.2",
"protein_id": "NP_001341677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354748.2"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873519.1",
"protein_id": "ENSP00000543578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873519.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934929.1",
"protein_id": "ENSP00000604988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934929.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873533.1",
"protein_id": "ENSP00000543592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873533.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000873534.1",
"protein_id": "ENSP00000543593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873534.1"
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942227.1",
"protein_id": "ENSP00000612286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942227.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942249.1",
"protein_id": "ENSP00000612308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942249.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942251.1",
"protein_id": "ENSP00000612310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942251.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942225.1",
"protein_id": "ENSP00000612284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942225.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000549941.7",
"protein_id": "ENSP00000446829.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549941.7"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942238.1",
"protein_id": "ENSP00000612297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942238.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942234.1",
"protein_id": "ENSP00000612293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942234.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942243.1",
"protein_id": "ENSP00000612302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942243.1"
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000942253.1",
"protein_id": "ENSP00000612312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942253.1"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000934930.1",
"protein_id": "ENSP00000604989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": null,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934930.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000546465.1",
"protein_id": "ENSP00000446519.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546465.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000549366.5",
"protein_id": "ENSP00000449622.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549366.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000549022.5",
"protein_id": "ENSP00000446805.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549022.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000548345.5",
"protein_id": "ENSP00000449269.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548345.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000552792.5",
"protein_id": "ENSP00000448940.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552792.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.298+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000548288.5",
"protein_id": "ENSP00000448018.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548288.5"
},
{
"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": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000549003.5",
"protein_id": "ENSP00000449835.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549003.5"
},
{
"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": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000629846.2",
"protein_id": "ENSP00000486196.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629846.2"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.604+1622A>C",
"hgvs_p": null,
"transcript": "XM_047428999.1",
"protein_id": "XP_047284955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428999.1"
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.604+1622A>C",
"hgvs_p": null,
"transcript": "XM_011538487.2",
"protein_id": "XP_011536789.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": null,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538487.2"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.508+1622A>C",
"hgvs_p": null,
"transcript": "XM_047429000.1",
"protein_id": "XP_047284956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": null,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429000.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.403+1622A>C",
"hgvs_p": null,
"transcript": "XM_047429001.1",
"protein_id": "XP_047284957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": null,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429001.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null,
"transcript": "XM_005268974.2",
"protein_id": "XP_005269031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": null,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268974.2"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null,
"transcript": "XM_005268976.4",
"protein_id": "XP_005269033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": null,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268976.4"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.307+1622A>C",
"hgvs_p": null,
"transcript": "XM_024449020.2",
"protein_id": "XP_024304788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449020.2"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.307+1622A>C",
"hgvs_p": null,
"transcript": "XM_047429002.1",
"protein_id": "XP_047284958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": null,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429002.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.184+1622A>C",
"hgvs_p": null,
"transcript": "XM_024449021.2",
"protein_id": "XP_024304789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": null,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449021.2"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.229+1622A>C",
"hgvs_p": null,
"transcript": "XM_047429003.1",
"protein_id": "XP_047284959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429003.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.184+1622A>C",
"hgvs_p": null,
"transcript": "XM_047429004.1",
"protein_id": "XP_047284960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429004.1"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.85+1622A>C",
"hgvs_p": null,
"transcript": "XM_024449022.2",
"protein_id": "XP_024304790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449022.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.86-844A>C",
"hgvs_p": null,
"transcript": "ENST00000547066.5",
"protein_id": "ENSP00000448318.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000547066.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.395-844A>C",
"hgvs_p": null,
"transcript": "ENST00000547581.5",
"protein_id": "ENSP00000447992.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000547581.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.152+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000548720.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000548720.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000551485.5",
"protein_id": "ENSP00000448315.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000551485.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.148+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000551548.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000551548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.85+1622A>C",
"hgvs_p": null,
"transcript": "ENST00000552989.5",
"protein_id": "ENSP00000447774.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552989.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.136+1622A>C",
"hgvs_p": null,
"transcript": "NR_148954.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148954.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.669-844A>C",
"hgvs_p": null,
"transcript": "NR_148955.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.136+1622A>C",
"hgvs_p": null,
"transcript": "NR_148956.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148956.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.136+1622A>C",
"hgvs_p": null,
"transcript": "NR_148957.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148957.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.136+1622A>C",
"hgvs_p": null,
"transcript": "NR_148958.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148958.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.136+1622A>C",
"hgvs_p": null,
"transcript": "NR_148959.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148959.2"
}
],
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"dbsnp": "rs10875746",
"frequency_reference_population": 0.21149701,
"hom_count_reference_population": 3536,
"allele_count_reference_population": 32178,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.211497,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 32178,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3536,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.259,
"phylop100way_prediction": "Benign",
"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": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001354735.1",
"gene_symbol": "PFKM",
"hgnc_id": 8877,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.394+1622A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}