{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619331",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.3726del (p.Lys1242AsnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408360[alleleid]",
        "alleleId": 408360,
        "preferredName": "NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423106",
        "RCV": [
          "RCV000483356",
          "RCV001223853"
        ],
        "variationId": 423106
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47353711del?assembly=hg19",
        "id": "chr11:g.47353711del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47332160del?assembly=hg38",
        "id": "chr11:g.47332160del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796231",
        "rs": 1064796231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47332160,
          "referenceAllele": "C",
          "start": 47332159
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47332160del",
        "CM000673.2:g.47332160del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47353711,
          "referenceAllele": "C",
          "start": 47353710
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47353711del",
        "CM000673.1:g.47353711del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47310287,
          "referenceAllele": "C",
          "start": 47310286
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47310287del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 25543,
          "referenceAllele": "G",
          "start": 25542
        }
      ],
      "hgvs": [
        "NG_007667.1:g.25543del",
        "LRG_386:g.25543del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3781,
          "referenceAllele": "G",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.6:c.3726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Lys1242AsnfsTer?",
        "hgvsWellDefined": "ENSP00000442795.1:p.[Lys1242Asn;Cys1244Ala;Phe1246_Asp1247delinsLeuThr;Gly1249_Arg1254delinsAlaSerMetSer;Thr1256_Glu1261delinsGlyProProThrTyrArg;Cys1264_Val1270delinsHisGlyValSerAlaAlaTrp;Val1272delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.3726del"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.3726del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Lys1242AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Lys1242AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3781,
          "referenceAllele": "G",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000256993.8:c.3726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256993.5:p.Lys1242AsnfsTer?",
        "hgvsWellDefined": "ENSP00000256993.5:p.[Lys1242Asn;Cys1244Ala;Phe1246_Asp1247delinsLeuThr;Gly1249_Arg1254delinsAlaSerMetSer;Thr1256_Glu1261delinsGlyProProThrTyrArg;Cys1264_Val1270delinsHisGlyValSerAlaAlaTrp;Val1272delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3781,
          "referenceAllele": "G",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.3726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Lys1242AsnfsTer?",
        "hgvsWellDefined": "ENSP00000382193.2:p.[Lys1242Asn;Cys1244Ala;Phe1246_Asp1247delinsLeuThr;Gly1249_Arg1254delinsAlaSerMetSer;Thr1256_Glu1261delinsGlyProProThrTyrArg;Cys1264_Val1270delinsHisGlyValSerAlaAlaTrp;Val1272delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3781,
          "referenceAllele": "G",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.5:c.3726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Lys1242AsnfsTer?",
        "hgvsWellDefined": "ENSP00000442795.1:p.[Lys1242Asn;Cys1244Ala;Phe1246_Asp1247delinsLeuThr;Gly1249_Arg1254delinsAlaSerMetSer;Thr1256_Glu1261delinsGlyProProThrTyrArg;Cys1264_Val1270delinsHisGlyValSerAlaAlaTrp;Val1272delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3781,
          "referenceAllele": "G",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NM_000256.3:c.3726del",
        "LRG_386t1:c.3726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000247.2:p.Lys1242AsnfsTer?",
        "hgvsWellDefined": "NP_000247.2:p.[Lys1242Asn;Cys1244Ala;Phe1246_Asp1247delinsLeuThr;Gly1249_Arg1254delinsAlaSerMetSer;Thr1256_Glu1261delinsGlyProProThrTyrArg;Cys1264_Val1270delinsHisGlyValSerAlaAlaTrp;Val1272delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.3726del"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.3726del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Lys1242AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Lys1242AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3763,
          "referenceAllele": "G",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.3708del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Lys1236AsnfsTer?",
        "hgvsWellDefined": "XP_011518419.1:p.[Lys1236Asn;Cys1238Ala;Phe1240_Asp1241delinsLeuThr;Gly1243_Arg1248delinsAlaSerMetSer;Thr1250_Glu1255delinsGlyProProThrTyrArg;Cys1258_Val1264delinsHisGlyValSerAlaAlaTrp;Val1266delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3700,
          "referenceAllele": "G",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520118.1:c.3645del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Lys1215AsnfsTer?",
        "hgvsWellDefined": "XP_011518420.1:p.[Lys1215Asn;Cys1217Ala;Phe1219_Asp1220delinsLeuThr;Gly1222_Arg1227delinsAlaSerMetSer;Thr1229_Glu1234delinsGlyProProThrTyrArg;Cys1237_Val1243delinsHisGlyValSerAlaAlaTrp;Val1245delinsCysGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}