{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1608623618",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.5555G= (p.Arg1852=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922669",
        "rs": 193922669
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 7582817,
          "referenceAllele": "G",
          "start": 7582816
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7582817G=",
        "CM000668.2:g.7582817G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 7583050,
          "referenceAllele": "G",
          "start": 7583049
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7583050G=",
        "CM000668.1:g.7583050G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 7528049,
          "referenceAllele": "G",
          "start": 7528048
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7528049G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46181,
          "referenceAllele": "G",
          "start": 46180
        }
      ],
      "hgvs": [
        "NG_008803.1:g.46181G=",
        "LRG_423:g.46181G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4804,
          "referenceAllele": "G",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.4226G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Arg1409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5800,
          "referenceAllele": "G",
          "start": 5799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.5555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.5555G="
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.5555G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg1852="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg1852="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5896,
          "referenceAllele": "G",
          "start": 5895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.5555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4057,
          "referenceAllele": "G",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.3758G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:p.Arg1253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.3758G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg1253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072193360",
      "coordinates": [
        {
          "allele": "G",
          "end": 5834,
          "referenceAllele": "G",
          "start": 5833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.5555G=",
        "LRG_423t1:c.5555G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4567,
          "referenceAllele": "G",
          "start": 4566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.4226G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Arg1409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4099,
          "referenceAllele": "G",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.3758G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg1253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4567,
          "referenceAllele": "G",
          "start": 4566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.4226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg1409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072193360",
      "coordinates": [
        {
          "allele": "G",
          "end": 5896,
          "referenceAllele": "G",
          "start": 5895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.5555G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072193360",
      "coordinates": [
        {
          "allele": "G",
          "end": 5800,
          "referenceAllele": "G",
          "start": 5799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.5555G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.5555G="
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.5555G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg1852="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg1852="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4003,
          "referenceAllele": "G",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.3758G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg1253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4471,
          "referenceAllele": "G",
          "start": 4470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.4226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg1409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}