{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16613383",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.2279del (p.Asp760AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=398269[alleleid]",
        "alleleId": 398269,
        "preferredName": "NM_000256.3(MYBPC3):c.2279del (p.Asp760fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407313",
        "RCV": [
          "RCV000466875"
        ],
        "variationId": 407313
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47360100del?assembly=hg19",
        "id": "chr11:g.47360100del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47338549del?assembly=hg38",
        "id": "chr11:g.47338549del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501478",
        "rs": 1060501478
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47338549,
          "referenceAllele": "T",
          "start": 47338548
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47338549del",
        "CM000673.2:g.47338549del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47360100,
          "referenceAllele": "T",
          "start": 47360099
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47360100del",
        "CM000673.1:g.47360100del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47316676,
          "referenceAllele": "T",
          "start": 47316675
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47316676del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 19154,
          "referenceAllele": "A",
          "start": 19153
        }
      ],
      "hgvs": [
        "NG_007667.1:g.19154del",
        "LRG_386:g.19154del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.6:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Asp760AlafsTer?",
        "hgvsWellDefined": "ENSP00000442795.1:p.[Asp760_Ala777delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys779_Ile780delinsArg;Asn782_Gly784delinsAlaThrTrp;Asp786_Thr789delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.2279del"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.2279del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Asp760AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Asp760AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000256993.8:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256993.5:p.Asp760AlafsTer?",
        "hgvsWellDefined": "ENSP00000256993.5:p.[Asp760_Ala777delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys779_Ile780delinsArg;Asn782_Gly784delinsAlaThrTrp;Asp786_Thr789delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Asp760AlafsTer?",
        "hgvsWellDefined": "ENSP00000382193.2:p.[Asp760_Ala777delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys779_Ile780delinsArg;Asn782_Gly784delinsAlaThrTrp;Asp786_Thr789delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000544791.1:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444259.1:p.Asp760AlafsTer?",
        "hgvsWellDefined": "ENSP00000444259.1:p.[Asp760_Ala777delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys779_Ile780delinsArg;Asn782_Gly784delinsAlaThrTrp;Asp786_Thr789delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.5:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Asp760AlafsTer?",
        "hgvsWellDefined": "ENSP00000442795.1:p.[Asp760_Ala777delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys779_Ile780delinsArg;Asn782_Gly784delinsAlaThrTrp;Asp786_Thr789delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NM_000256.3:c.2279del",
        "LRG_386t1:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000247.2:p.Asp760AlafsTer?",
        "hgvsWellDefined": "NP_000247.2:p.[Asp760_Ala777delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys779_Ile780delinsArg;Asn782_Gly784delinsAlaThrTrp;Asp786_Thr789delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.2279del"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.2279del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Asp760AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Asp760AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2316,
          "referenceAllele": "A",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.2261del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Asp754AlafsTer?",
        "hgvsWellDefined": "XP_011518419.1:p.[Asp754_Ala771delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys773_Ile774delinsArg;Asn776_Gly778delinsAlaThrTrp;Asp780_Thr783delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2253,
          "referenceAllele": "A",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520118.1:c.2198del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Asp733AlafsTer?",
        "hgvsWellDefined": "XP_011518420.1:p.[Asp733_Ala750delinsAlaArgSerThrSerGlnSerArgSerSerThrCysGlnThrHisLeuArgPro;Lys752_Ile753delinsArg;Asn755_Gly757delinsAlaThrTrp;Asp759_Thr762delinsArgThrProAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}