{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005299",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.214C>T (p.Gln72Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54039[alleleid]",
        "alleleId": 54039,
        "preferredName": "NM_004415.4(DSP):c.214C>T (p.Gln72Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44872",
        "RCV": [
          "RCV000038006",
          "RCV003764675"
        ],
        "variationId": 44872
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7555994C>T?assembly=hg19",
        "id": "chr6:g.7555994C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7555761C>T?assembly=hg38",
        "id": "chr6:g.7555761C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516923",
        "rs": 397516923
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 7555761,
          "referenceAllele": "C",
          "start": 7555760
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7555761C>T",
        "CM000668.2:g.7555761C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 7555994,
          "referenceAllele": "C",
          "start": 7555993
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7555994C>T",
        "CM000668.1:g.7555994C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 7500993,
          "referenceAllele": "C",
          "start": 7500992
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7500993C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19125,
          "referenceAllele": "C",
          "start": 19124
        }
      ],
      "hgvs": [
        "NG_008803.1:g.19125C>T",
        "LRG_423:g.19125C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000683682.2:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508162.2:p.Gln72Ter",
        "hgvsWellDefined": "ENSP00000508162.2:p.Gln72_Gly112delinsGluLeuLeuGlnAsnCysSerAspCysLeuMetArgAlaGluLeuIleValGlnProValSerPheProCysSerHisArgPheSerGlnSerLeuGlyHisThrArgLeuSerSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "C",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000683563.1:n.106C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000683682.1:c.109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508162.1:p.Gln37Ter",
        "hgvsWellDefined": "ENSP00000508162.1:p.Gln37_Gly77delinsGluLeuLeuGlnAsnCysSerAspCysLeuMetArgAlaGluLeuIleValGlnProValSerPheProCysSerHisArgPheSerGlnSerLeuGlyHisThrArgLeuSerSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.214C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.214C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Gln72Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Gln72Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.214C>T",
        "LRG_423t1:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.214C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.214C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Gln72Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Gln72Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Gln72Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}