← 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: 15-99712504-CCAGCAGCAGCAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99712504&ref=CCAGCAGCAGCAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 99712504,
"ref": "CCAGCAGCAGCAG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000557942.6",
"consequences": [
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001319206.4",
"protein_id": "NP_001306135.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "ENST00000557942.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "ENST00000557942.6",
"protein_id": "ENSP00000453095.1",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "NM_001319206.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "ENST00000354410.9",
"protein_id": "ENSP00000346389.5",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1388_1399delAGCAGCAGCAGC",
"hgvs_p": "p.Gln463_Gln466del",
"transcript": "NM_001400028.1",
"protein_id": "NP_001386957.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 543,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "NM_001365201.3",
"protein_id": "NP_001352130.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "NM_001365202.3",
"protein_id": "NP_001352131.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "ENST00000338042.11",
"protein_id": "ENSP00000337202.8",
"transcript_support_level": 2,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "ENST00000690055.1",
"protein_id": "ENSP00000509700.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "ENST00000705985.1",
"protein_id": "ENSP00000516195.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "NM_001365203.3",
"protein_id": "NP_001352132.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "NM_001365204.3",
"protein_id": "NP_001352133.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "NM_001400029.1",
"protein_id": "NP_001386958.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "NM_001400030.1",
"protein_id": "NP_001386959.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "ENST00000686611.1",
"protein_id": "ENSP00000509137.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001352616.4",
"protein_id": "NP_001339545.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001365205.3",
"protein_id": "NP_001352134.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001400031.1",
"protein_id": "NP_001386960.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001400032.1",
"protein_id": "NP_001386961.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001400033.1",
"protein_id": "NP_001386962.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001400034.1",
"protein_id": "NP_001386963.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001400035.1",
"protein_id": "NP_001386964.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "NM_001400036.1",
"protein_id": "NP_001386965.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 5630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1268_1279delAGCAGCAGCAGC",
"hgvs_p": "p.Gln423_Gln426del",
"transcript": "NM_001352618.4",
"protein_id": "NP_001339547.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 503,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1268_1279delAGCAGCAGCAGC",
"hgvs_p": "p.Gln423_Gln426del",
"transcript": "NM_001365206.3",
"protein_id": "NP_001352135.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 503,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 5492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1268_1279delAGCAGCAGCAGC",
"hgvs_p": "p.Gln423_Gln426del",
"transcript": "NM_001400037.1",
"protein_id": "NP_001386966.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 503,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001352617.4",
"protein_id": "NP_001339546.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001365207.3",
"protein_id": "NP_001352136.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400038.1",
"protein_id": "NP_001386967.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400039.1",
"protein_id": "NP_001386968.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400040.1",
"protein_id": "NP_001386969.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400049.1",
"protein_id": "NP_001386978.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400050.1",
"protein_id": "NP_001386979.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400051.1",
"protein_id": "NP_001386980.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 5476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400052.1",
"protein_id": "NP_001386981.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_001400053.1",
"protein_id": "NP_001386982.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 5601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "NM_005587.6",
"protein_id": "NP_005578.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001130926.5",
"protein_id": "NP_001124398.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 5474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001171894.5",
"protein_id": "NP_001165365.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001352614.4",
"protein_id": "NP_001339543.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001352615.4",
"protein_id": "NP_001339544.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001365208.3",
"protein_id": "NP_001352137.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400054.1",
"protein_id": "NP_001386983.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400055.1",
"protein_id": "NP_001386984.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400056.1",
"protein_id": "NP_001386985.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400057.1",
"protein_id": "NP_001386986.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400058.1",
"protein_id": "NP_001386987.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400059.1",
"protein_id": "NP_001386988.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 5605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400060.1",
"protein_id": "NP_001386989.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400061.1",
"protein_id": "NP_001386990.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400062.1",
"protein_id": "NP_001386991.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400063.1",
"protein_id": "NP_001386992.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400064.1",
"protein_id": "NP_001386993.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400065.1",
"protein_id": "NP_001386994.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "NM_001400066.1",
"protein_id": "NP_001386995.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "ENST00000557785.5",
"protein_id": "ENSP00000453441.1",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "ENST00000691492.1",
"protein_id": "ENSP00000509537.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1076_1087delAGCAGCAGCAGC",
"hgvs_p": "p.Gln359_Gln362del",
"transcript": "NM_001400067.1",
"protein_id": "NP_001386996.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 439,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1070_1081delAGCAGCAGCAGC",
"hgvs_p": "p.Gln357_Gln360del",
"transcript": "NM_001130927.5",
"protein_id": "NP_001124399.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 437,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1070_1081delAGCAGCAGCAGC",
"hgvs_p": "p.Gln357_Gln360del",
"transcript": "NM_001365209.3",
"protein_id": "NP_001352138.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 437,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1070_1081delAGCAGCAGCAGC",
"hgvs_p": "p.Gln357_Gln360del",
"transcript": "ENST00000558812.5",
"protein_id": "ENSP00000454120.1",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 437,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1268_1279delAGCAGCAGCAGC",
"hgvs_p": "p.Gln423_Gln426del",
"transcript": "ENST00000685785.1",
"protein_id": "ENSP00000508747.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 435,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1310,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1052_1063delAGCAGCAGCAGC",
"hgvs_p": "p.Gln351_Gln354del",
"transcript": "NM_001393558.2",
"protein_id": "NP_001380487.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 431,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1052_1063delAGCAGCAGCAGC",
"hgvs_p": "p.Gln351_Gln354del",
"transcript": "NM_001400068.1",
"protein_id": "NP_001386997.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 431,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1046_1057delAGCAGCAGCAGC",
"hgvs_p": "p.Gln349_Gln352del",
"transcript": "NM_001130928.4",
"protein_id": "NP_001124400.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 429,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1046_1057delAGCAGCAGCAGC",
"hgvs_p": "p.Gln349_Gln352del",
"transcript": "NM_001393559.2",
"protein_id": "NP_001380488.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 429,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1046_1057delAGCAGCAGCAGC",
"hgvs_p": "p.Gln349_Gln352del",
"transcript": "ENST00000449277.6",
"protein_id": "ENSP00000399460.2",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 429,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.935_946delAGCAGCAGCAGC",
"hgvs_p": "p.Gln312_Gln315del",
"transcript": "NM_001393560.2",
"protein_id": "NP_001380489.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 392,
"cds_start": 935,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.914_925delAGCAGCAGCAGC",
"hgvs_p": "p.Gln305_Gln308del",
"transcript": "NM_001400069.1",
"protein_id": "NP_001386998.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 385,
"cds_start": 914,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.446_457delAGCAGCAGCAGC",
"hgvs_p": "p.Gln149_Gln152del",
"transcript": "NM_001393561.3",
"protein_id": "NP_001380490.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 229,
"cds_start": 446,
"cds_end": null,
"cds_length": 690,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "XM_011521572.3",
"protein_id": "XP_011519874.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "XM_011521573.3",
"protein_id": "XP_011519875.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "XM_011521577.3",
"protein_id": "XP_011519879.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "XM_011521579.3",
"protein_id": "XP_011519881.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "XM_047432519.1",
"protein_id": "XP_047288475.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 5512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1292_1303delAGCAGCAGCAGC",
"hgvs_p": "p.Gln431_Gln434del",
"transcript": "XM_047432520.1",
"protein_id": "XP_047288476.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 511,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "XM_011521582.3",
"protein_id": "XP_011519884.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "XM_047432521.1",
"protein_id": "XP_047288477.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1280_1291delAGCAGCAGCAGC",
"hgvs_p": "p.Gln427_Gln430del",
"transcript": "XM_047432526.1",
"protein_id": "XP_047288482.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 507,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del",
"transcript": "XM_047432522.1",
"protein_id": "XP_047288478.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 505,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1268_1279delAGCAGCAGCAGC",
"hgvs_p": "p.Gln423_Gln426del",
"transcript": "XM_047432523.1",
"protein_id": "XP_047288479.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 503,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1268_1279delAGCAGCAGCAGC",
"hgvs_p": "p.Gln423_Gln426del",
"transcript": "XM_047432527.1",
"protein_id": "XP_047288483.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 503,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "XM_047432524.1",
"protein_id": "XP_047288480.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "XM_047432528.1",
"protein_id": "XP_047288484.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1256_1267delAGCAGCAGCAGC",
"hgvs_p": "p.Gln419_Gln422del",
"transcript": "XM_047432529.1",
"protein_id": "XP_047288485.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 499,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "XM_047432525.1",
"protein_id": "XP_047288481.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "XM_047432530.1",
"protein_id": "XP_047288486.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 5798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1250_1261delAGCAGCAGCAGC",
"hgvs_p": "p.Gln417_Gln420del",
"transcript": "XM_047432531.1",
"protein_id": "XP_047288487.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 497,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1088_1099delAGCAGCAGCAGC",
"hgvs_p": "p.Gln363_Gln366del",
"transcript": "XM_011521585.3",
"protein_id": "XP_011519887.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 443,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1076_1087delAGCAGCAGCAGC",
"hgvs_p": "p.Gln359_Gln362del",
"transcript": "XM_047432532.1",
"protein_id": "XP_047288488.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 439,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "n.526_537delAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000561125.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"dbsnp": "rs3138597",
"frequency_reference_population": 0.0011629153,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1781,
"gnomad_exomes_af": 0.00115416,
"gnomad_genomes_af": 0.00124335,
"gnomad_exomes_ac": 1594,
"gnomad_genomes_ac": 187,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.73,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000557942.6",
"gene_symbol": "MEF2A",
"hgnc_id": 6993,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1274_1285delAGCAGCAGCAGC",
"hgvs_p": "p.Gln425_Gln428del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}