{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2613392572",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.2332_2334del (p.Pro778del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518030",
        "rs": 1057518030
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47337768-TGGG-T?dataset=gnomad_r4",
        "id": "11-47337768-TGGG-T",
        "variant": "11:47337768 TGGG / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47337773,
          "referenceAllele": "GGG",
          "start": 47337770
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47337771_47337773del",
        "CM000673.2:g.47337771_47337773del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47359324,
          "referenceAllele": "GGG",
          "start": 47359321
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47359322_47359324del",
        "CM000673.1:g.47359322_47359324del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 47315900,
          "referenceAllele": "GGG",
          "start": 47315897
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47315898_47315900del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 19934,
          "referenceAllele": "CCC",
          "start": 19931
        }
      ],
      "hgvs": [
        "NG_007667.1:g.19932_19934del",
        "LRG_386:g.19932_19934del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "CCC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.6:c.2332_2334del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Pro778del",
        "hgvsWellDefined": "ENSP00000442795.1:p.Pro778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.2332_2334del"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.2332_2334del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Pro778del"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Pro778del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "CCC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000256993.8:c.2332_2334del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256993.5:p.Pro778del",
        "hgvsWellDefined": "ENSP00000256993.5:p.Pro778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "CCC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.2332_2334del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Pro778del",
        "hgvsWellDefined": "ENSP00000382193.2:p.Pro778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "CCC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000544791.1:c.2332_2334del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444259.1:p.Pro778del",
        "hgvsWellDefined": "ENSP00000444259.1:p.Pro778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "CCC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.5:c.2332_2334del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Pro778del",
        "hgvsWellDefined": "ENSP00000442795.1:p.Pro778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078343056",
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "CCC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NM_000256.3:c.2332_2334del",
        "LRG_386t1:c.2332_2334del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000247.2:p.Pro778del",
        "hgvsWellDefined": "NP_000247.2:p.Pro778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.2332_2334del"
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.2332_2334del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Pro778del"
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Pro778del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2371,
          "referenceAllele": "CCC",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.2314_2316del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Pro772del",
        "hgvsWellDefined": "XP_011518419.1:p.Pro772del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2308,
          "referenceAllele": "CCC",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520118.1:c.2251_2253del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Pro751del",
        "hgvsWellDefined": "XP_011518420.1:p.Pro751del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}