{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16610432",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.60621del (p.Tyr20207Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=392007[alleleid]",
        "alleleId": 392007,
        "preferredName": "NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404768",
        "RCV": [
          "RCV000473588",
          "RCV001378734"
        ],
        "variationId": 404768
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179455831del?assembly=hg19",
        "id": "chr2:g.179455831del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178591104del?assembly=hg38",
        "id": "chr2:g.178591104del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500442",
        "rs": 1060500442
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 178591104,
          "referenceAllele": "A",
          "start": 178591103
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178591104del",
        "CM000664.2:g.178591104del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 179455831,
          "referenceAllele": "A",
          "start": 179455830
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179455831del",
        "CM000664.1:g.179455831del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 179164077,
          "referenceAllele": "A",
          "start": 179164076
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179164077del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 244699,
          "referenceAllele": "T",
          "start": 244698
        }
      ],
      "hgvs": [
        "NG_011618.3:g.244699del",
        "LRG_391:g.244699del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 73278,
          "referenceAllele": "A",
          "start": 73277
        }
      ],
      "hgvs": [
        "NG_051363.1:g.73278del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53142,
          "referenceAllele": "T",
          "start": 53141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.52917del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Tyr17639Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34002,
          "referenceAllele": "T",
          "start": 34001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.34002del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Tyr11334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33801,
          "referenceAllele": "T",
          "start": 33800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.33801del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Tyr11267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34227,
          "referenceAllele": "T",
          "start": 34226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.34002del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Tyr11334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53140,
          "referenceAllele": "T",
          "start": 53139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.52917del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Tyr17639Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34026,
          "referenceAllele": "T",
          "start": 34025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.33801del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Tyr11267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33651,
          "referenceAllele": "T",
          "start": 33650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.33426del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Tyr11142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 60846,
          "referenceAllele": "T",
          "start": 60845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.60621del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Tyr20207Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.60621del"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.60621del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Tyr20207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Tyr20207Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55923,
          "referenceAllele": "T",
          "start": 55922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.55698del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Tyr18566Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55923,
          "referenceAllele": "T",
          "start": 55922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.55698del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Tyr18566Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55923,
          "referenceAllele": "T",
          "start": 55922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.55698del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Tyr18566Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 60846,
          "referenceAllele": "T",
          "start": 60845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.60621del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Tyr20207Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.60621del"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.60621del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Tyr20207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Tyr20207Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33651,
          "referenceAllele": "T",
          "start": 33650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.33426del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Tyr11142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53142,
          "referenceAllele": "T",
          "start": 53141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.52917del"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Tyr17639Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34026,
          "referenceAllele": "T",
          "start": 34025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.33801del"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Tyr11267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34227,
          "referenceAllele": "T",
          "start": 34226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.34002del"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Tyr11334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 6491,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 6492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.597-6492del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3188,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3188,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.3189-35del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 60114,
          "referenceAllele": "T",
          "start": 60113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.59718del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Tyr19906Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34008,
          "referenceAllele": "T",
          "start": 34007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.33612del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Tyr11204Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33867,
          "referenceAllele": "T",
          "start": 33866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.33471del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Tyr11157Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59739,
          "referenceAllele": "T",
          "start": 59738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.59514del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Tyr19838Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55137,
          "referenceAllele": "T",
          "start": 55136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.54912del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Tyr18304Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55134,
          "referenceAllele": "T",
          "start": 55133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.54909del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Tyr18303Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 52176,
          "referenceAllele": "T",
          "start": 52175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.51951del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Tyr17317Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33792,
          "referenceAllele": "T",
          "start": 33791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.33567del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Tyr11189Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55287,
          "referenceAllele": "T",
          "start": 55286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.55062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Tyr18354Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55284,
          "referenceAllele": "T",
          "start": 55283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.55059del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Tyr18353Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 54717,
          "referenceAllele": "T",
          "start": 54716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.54492del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Tyr18164Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 52059,
          "referenceAllele": "T",
          "start": 52058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.51834del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Tyr17278Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 51978,
          "referenceAllele": "T",
          "start": 51977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.51753del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Tyr17251Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33741,
          "referenceAllele": "T",
          "start": 33740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.33516del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Tyr11172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23396,
          "referenceAllele": "T",
          "start": 23395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.23370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Tyr7790Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}