{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044144",
  "communityStandardTitle": [
    "NM_001429.4(EP300):c.7222_7223del (p.Gln2408GlufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226604[alleleid]",
        "alleleId": 226604,
        "preferredName": "NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224785",
        "RCV": [
          "RCV000416791"
        ],
        "variationId": 224785
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.41574937_41574938del?assembly=hg19",
        "id": "chr22:g.41574937_41574938del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.41178933_41178934del?assembly=hg38",
        "id": "chr22:g.41178933_41178934del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519375",
        "rs": 1057519375
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 41178934,
          "referenceAllele": "CA",
          "start": 41178932
        }
      ],
      "hgvs": [
        "NC_000022.11:g.41178933_41178934del",
        "CM000684.2:g.41178933_41178934del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 41574938,
          "referenceAllele": "CA",
          "start": 41574936
        }
      ],
      "hgvs": [
        "NC_000022.10:g.41574937_41574938del",
        "CM000684.1:g.41574937_41574938del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 39904884,
          "referenceAllele": "CA",
          "start": 39904882
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39904883_39904884del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 91325,
          "referenceAllele": "CA",
          "start": 91323
        }
      ],
      "hgvs": [
        "NG_009817.1:g.91324_91325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001654"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7636,
          "referenceAllele": "CA",
          "start": 7634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.9:c.7222_7223del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:p.Gln2408GlufsTer?",
        "hgvsWellDefined": "ENSP00000263253.7:p.[Gln2408_Ser2409delinsGluTyr;Thr2410_Leu2411insArgHisThr;Asp2412delinsGluThrProCysSer;His2414delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.7222_7223del"
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.7222_7223del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:p.Gln2408GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:p.Gln2408GlufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7145,
          "referenceAllele": "CA",
          "start": 7143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000674155.1:c.7144_7145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501078.1:p.Gln2382GlufsTer?",
        "hgvsWellDefined": "ENSP00000501078.1:p.[Gln2382_Ser2383delinsGluTyr;Thr2384_Leu2385insArgHisThr;Asp2386delinsGluThrProCysSer;His2388delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8442,
          "referenceAllele": "CA",
          "start": 8440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.8:c.7222_7223del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:p.Gln2408GlufsTer?",
        "hgvsWellDefined": "ENSP00000263253.7:p.[Gln2408_Ser2409delinsGluTyr;Thr2410_Leu2411insArgHisThr;Asp2412delinsGluThrProCysSer;His2414delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7618,
          "referenceAllele": "CA",
          "start": 7616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.3:c.7222_7223del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:p.Gln2408GlufsTer?",
        "hgvsWellDefined": "NP_001420.2:p.[Gln2408_Ser2409delinsGluTyr;Thr2410_Leu2411insArgHisThr;Asp2412delinsGluThrProCysSer;His2414delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026813"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7343,
          "referenceAllele": "CA",
          "start": 7341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "XM_006724165.2:c.7144_7145del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724228.1:p.Gln2382GlufsTer?",
        "hgvsWellDefined": "XP_006724228.1:p.[Gln2382_Ser2383delinsGluTyr;Thr2384_Leu2385insArgHisThr;Asp2386delinsGluThrProCysSer;His2388delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075387"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7540,
          "referenceAllele": "CA",
          "start": 7538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.1:c.7144_7145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:p.Gln2382GlufsTer?",
        "hgvsWellDefined": "NP_001349772.1:p.[Gln2382_Ser2383delinsGluTyr;Thr2384_Leu2385insArgHisThr;Asp2386delinsGluThrProCysSer;His2388delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7636,
          "referenceAllele": "CA",
          "start": 7634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.4:c.7222_7223del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:p.Gln2408GlufsTer?",
        "hgvsWellDefined": "NP_001420.2:p.[Gln2408_Ser2409delinsGluTyr;Thr2410_Leu2411insArgHisThr;Asp2412delinsGluThrProCysSer;His2414delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.7222_7223del"
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.7222_7223del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:p.Gln2408GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:p.Gln2408GlufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7558,
          "referenceAllele": "CA",
          "start": 7556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.2:c.7144_7145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:p.Gln2382GlufsTer?",
        "hgvsWellDefined": "NP_001349772.1:p.[Gln2382_Ser2383delinsGluTyr;Thr2384_Leu2385insArgHisThr;Asp2386delinsGluThrProCysSer;His2388delinsLeuGlyAlaLysLysLeuPheSerLeuAsnLysThrPheCysThrGluAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690558"
    }
  ],
  "type": "nucleotide"
}