{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004265",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1580818",
        "active": true,
        "id": "COSM1580818"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197071[alleleid]",
        "alleleId": 197071,
        "preferredName": "NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199881",
        "RCV": [
          "RCV000181316",
          "RCV000709723",
          "RCV001028062",
          "RCV003150054",
          "RCV003165384",
          "RCV001388420"
        ],
        "variationId": 199881
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-7580228-C-T",
        "id": "6-7580228-C-T",
        "variant": "6:7580228 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7580228C>T?assembly=hg19",
        "id": "chr6:g.7580228C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7580228_7580229delinsTG?assembly=hg19",
        "id": "chr6:g.7580228_7580229delinsTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7579995C>T?assembly=hg38",
        "id": "chr6:g.7579995C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7579995_7579996delinsTG?assembly=hg38",
        "id": "chr6:g.7579995_7579996delinsTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767643821",
        "rs": 767643821
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7580228-C-T?dataset=gnomad_r2_1",
        "id": "6-7580228-C-T",
        "variant": "6:7580228 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7579995-C-T?dataset=gnomad_r3",
        "id": "6-7579995-C-T",
        "variant": "6:7579995 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7579995-C-T?dataset=gnomad_r4",
        "id": "6-7579995-C-T",
        "variant": "6:7579995 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 7579995,
          "referenceAllele": "C",
          "start": 7579994
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7579995C>T",
        "CM000668.2:g.7579995C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 7580228,
          "referenceAllele": "C",
          "start": 7580227
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7580228C>T",
        "CM000668.1:g.7580228C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 7525227,
          "referenceAllele": "C",
          "start": 7525226
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7525227C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43359,
          "referenceAllele": "C",
          "start": 43358
        }
      ],
      "hgvs": [
        "NG_008803.1:g.43359C>T",
        "LRG_423:g.43359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4050,
          "referenceAllele": "C",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.3805C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.3805C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg1269Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg1269Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3881,
          "endIntronDirection": "+",
          "endIntronOffset": 223,
          "referenceAllele": "C",
          "start": 3881,
          "startIntronDirection": "+",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.3582+223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:n.3582+223C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3861,
          "endIntronDirection": "+",
          "endIntronOffset": 223,
          "referenceAllele": "C",
          "start": 3861,
          "startIntronDirection": "+",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.3582+223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+223C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4084,
          "referenceAllele": "C",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.3805C>T",
        "LRG_423t1:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3923,
          "endIntronDirection": "+",
          "endIntronOffset": 223,
          "referenceAllele": "C",
          "start": 3923,
          "startIntronDirection": "+",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.3582+223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+223C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4050,
          "referenceAllele": "C",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.3805C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.3805C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg1269Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg1269Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3827,
          "endIntronDirection": "+",
          "endIntronOffset": 223,
          "referenceAllele": "C",
          "start": 3827,
          "startIntronDirection": "+",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.3582+223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+223C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4050,
          "referenceAllele": "C",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.3805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg1269Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}