{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013001",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45725[alleleid]",
        "alleleId": 45725,
        "preferredName": "NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37039",
        "RCV": [
          "RCV000030699",
          "RCV000158189",
          "RCV000248559",
          "RCV000471886",
          "RCV001179578"
        ],
        "variationId": 37039
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-47356671-G-A",
        "id": "11-47356671-G-A",
        "variant": "11:47356671 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47356671G>A?assembly=hg19",
        "id": "chr11:g.47356671G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47335120G>A?assembly=hg38",
        "id": "chr11:g.47335120G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907267",
        "rs": 387907267
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47356671-G-A?dataset=gnomad_r2_1",
        "id": "11-47356671-G-A",
        "variant": "11:47356671 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47335120-G-A?dataset=gnomad_r3",
        "id": "11-47335120-G-A",
        "variant": "11:47335120 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47335120-G-A?dataset=gnomad_r4",
        "id": "11-47335120-G-A",
        "variant": "11:47335120 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47335120,
          "referenceAllele": "G",
          "start": 47335119
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47335120G>A",
        "CM000673.2:g.47335120G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47356671,
          "referenceAllele": "G",
          "start": 47356670
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47356671G>A",
        "CM000673.1:g.47356671G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47313247,
          "referenceAllele": "G",
          "start": 47313246
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47313247G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22583,
          "referenceAllele": "C",
          "start": 22582
        }
      ],
      "hgvs": [
        "NG_007667.1:g.22583C>T",
        "LRG_386:g.22583C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "C",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.6:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Arg943Ter",
        "hgvsWellDefined": "ENSP00000442795.1:p.Arg943_Gln1274delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000545968.6:c.2827C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.2827C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Arg943Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Arg943Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "C",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000256993.8:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256993.5:p.Arg943Ter",
        "hgvsWellDefined": "ENSP00000256993.5:p.Arg943_Gln1274delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "C",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Arg943Ter",
        "hgvsWellDefined": "ENSP00000382193.2:p.Arg943_Gln1274delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "C",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Arg943Ter",
        "hgvsWellDefined": "ENSP00000442795.1:p.Arg943_Gln1274delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260581",
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "C",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NM_000256.3:c.2827C>T",
        "LRG_386t1:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000247.2:p.Arg943Ter",
        "hgvsWellDefined": "NP_000247.2:p.Arg943_Gln1274delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.2827C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.2827C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Arg943Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Arg943Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2864,
          "referenceAllele": "C",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.2809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Arg937Ter",
        "hgvsWellDefined": "XP_011518419.1:p.Arg937_Gln1268delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520118.1:c.2746C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Arg916Ter",
        "hgvsWellDefined": "XP_011518420.1:p.Arg916_Gln1247delinsValArgAlaHisAsnMetAlaGlyProGlyAlaProValThrThrThrGluProValThrValGlnGluIleLeuGlnArgProArgLeuGlnLeuProArgHisLeuArgGlnThrIleGlnLysLysValGlyGluProValAsnLeuLeuIleProPheGlnGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}