{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293645898",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.2368_2370dup (p.Gly790dup)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3794372[alleleid]",
        "alleleId": 3794372,
        "preferredName": "NM_024422.6(DSC2):c.2365GGA[3] (p.Gly790_His791insGly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3660657",
        "RCV": [
          "RCV005140548"
        ],
        "variationId": 3660657
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377272752",
        "rs": 377272752
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 31069038,
          "referenceAllele": "",
          "start": 31069038
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31069036_31069038dup",
        "CM000680.2:g.31069036_31069038dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 28649004,
          "referenceAllele": "",
          "start": 28649004
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28649002_28649004dup",
        "CM000680.1:g.28649002_28649004dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CCT",
          "end": 26903002,
          "referenceAllele": "",
          "start": 26903002
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26903000_26903002dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 38394,
          "referenceAllele": "",
          "start": 38394
        }
      ],
      "hgvs": [
        "NG_008208.2:g.38392_38394dup",
        "LRG_400:g.38392_38394dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2369,
          "referenceAllele": "",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.1939_1941dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Gly647_His648insGly",
        "hgvsWellDefined": "ENSP00000507826.1:p.Gly647dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2820,
          "referenceAllele": "",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Gly790_His791insGly",
        "hgvsWellDefined": "ENSP00000251081.6:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2820,
          "referenceAllele": "",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Gly790_His791insGly",
        "hgvsWellDefined": "ENSP00000280904.6:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.2368_2370dup"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.2368_2370dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Gly790_His791insGly"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Gly790_His791insGly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2425,
          "referenceAllele": "",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.1939_1941dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:p.Gly647_His648insGly",
        "hgvsWellDefined": "ENSP00000497441.1:p.Gly647dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2403,
          "referenceAllele": "",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Gly790_His791insGly",
        "hgvsWellDefined": "ENSP00000251081.6:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2814,
          "referenceAllele": "",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Gly790_His791insGly",
        "hgvsWellDefined": "ENSP00000280904.6:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2831,
          "referenceAllele": "",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Gly790_His791insGly",
        "hgvsWellDefined": "NP_004940.1:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057507202",
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2831,
          "referenceAllele": "",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Gly790_His791insGly",
        "hgvsWellDefined": "NP_077740.1:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2342,
          "referenceAllele": "",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.1939_1941dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Gly647_His648insGly",
        "hgvsWellDefined": "XP_005258263.1:p.Gly647dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2332,
          "referenceAllele": "",
          "start": 2332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.1939_1941dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Gly647_His648insGly",
        "hgvsWellDefined": "XP_005258263.1:p.Gly647dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2820,
          "referenceAllele": "",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Gly790_His791insGly",
        "hgvsWellDefined": "NP_004940.1:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057507202",
      "coordinates": [
        {
          "allele": "GAG",
          "end": 2820,
          "referenceAllele": "",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.2368_2370dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Gly790_His791insGly",
        "hgvsWellDefined": "NP_077740.1:p.Gly790dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.2368_2370dup"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.2368_2370dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Gly790_His791insGly"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Gly790_His791insGly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}