{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342761",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4752031",
        "active": true,
        "id": "COSM4752031"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39865[alleleid]",
        "alleleId": 39865,
        "preferredName": "NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30908",
        "RCV": [
          "RCV000023895",
          "RCV000255081",
          "RCV000623916",
          "RCV001420319",
          "RCV002273937",
          "RCV003407357",
          "RCV003988823"
        ],
        "variationId": 30908
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30748691C>T?assembly=hg19",
        "id": "chr16:g.30748691C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30737370C>T?assembly=hg38",
        "id": "chr16:g.30737370C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199469464",
        "rs": 199469464
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30737370-C-T?dataset=gnomad_r4",
        "id": "16-30737370-C-T",
        "variant": "16:30737370 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30737370,
          "referenceAllele": "C",
          "start": 30737369
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30737370C>T",
        "CM000678.2:g.30737370C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30748691,
          "referenceAllele": "C",
          "start": 30748690
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30748691C>T",
        "CM000678.1:g.30748691C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30656192,
          "referenceAllele": "C",
          "start": 30656191
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30656192C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43230,
          "referenceAllele": "C",
          "start": 43229
        }
      ],
      "hgvs": [
        "NG_032135.1:g.43230C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7866,
          "referenceAllele": "C",
          "start": 7865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.7330C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000405186.3:p.Arg2444_Thr3230delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 1593,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1593+17C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7832,
          "referenceAllele": "C",
          "start": 7831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.7330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Arg2444Ter",
        "hgvsWellDefined": "ENSP00000516346.1:p.Arg2444_Thr3230delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7685,
          "referenceAllele": "C",
          "start": 7684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.7330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Arg2444Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Arg2444_Thr3230delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg2444Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg2444Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7715,
          "referenceAllele": "C",
          "start": 7714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.7330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Arg2444Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Arg2444_Thr3230delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6799,
          "referenceAllele": "C",
          "start": 6798
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.6799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Arg2267Ter",
        "hgvsWellDefined": "ENSP00000369719.3:p.Arg2267_Thr3053delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6763,
          "referenceAllele": "C",
          "start": 6762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.6553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Arg2185Ter",
        "hgvsWellDefined": "ENSP00000378499.3:p.Arg2185_Thr2971delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342762",
      "coordinates": [
        {
          "allele": "T",
          "end": 7715,
          "referenceAllele": "C",
          "start": 7714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.7330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg2444Ter",
        "hgvsWellDefined": "NP_006653.2:p.Arg2444_Thr3230delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342762",
      "coordinates": [
        {
          "allele": "T",
          "end": 7685,
          "referenceAllele": "C",
          "start": 7684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.7330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg2444Ter",
        "hgvsWellDefined": "NP_006653.2:p.Arg2444_Thr3230delinsProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg2444Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg2444Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}