{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022741",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.2487del (p.Phe829LeufsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197933[alleleid]",
        "alleleId": 197933,
        "preferredName": "NM_024422.6(DSC2):c.2487del (p.Phe829fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199779",
        "RCV": [
          "RCV000181174",
          "RCV003517141"
        ],
        "variationId": 199779
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28648881del?assembly=hg19",
        "id": "chr18:g.28648881del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31068915del?assembly=hg38",
        "id": "chr18:g.31068915del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728073",
        "rs": 794728073
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 31068918,
          "referenceAllele": "A",
          "start": 31068917
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31068918del",
        "CM000680.2:g.31068918del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 28648884,
          "referenceAllele": "A",
          "start": 28648883
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28648884del",
        "CM000680.1:g.28648884del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 26902882,
          "referenceAllele": "A",
          "start": 26902881
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26902882del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 38511,
          "referenceAllele": "T",
          "start": 38510
        }
      ],
      "hgvs": [
        "NG_008208.2:g.38511del",
        "LRG_400:g.38511del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2486,
          "referenceAllele": "T",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.2058del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Phe686LeufsTer27",
        "hgvsWellDefined": "ENSP00000507826.1:p.[Phe686_Gln688delinsLeuLeuSer;Arg690Val;Gly692_Glu693delinsValLys;Val695_Leu697delinsCysIle;Asn699_His704delinsValIleLysMet;His706_Leu712delinsIleThrSerMetProLys;Tyr714_Tyr716delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Phe829LeufsTer16",
        "hgvsWellDefined": "ENSP00000251081.6:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_His842delinsValLysAsnProLeuGluAsp;Ile845Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Phe829LeufsTer27",
        "hgvsWellDefined": "ENSP00000280904.6:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_Glu836delinsValLys;Val838_Leu840delinsCysIle;Asn842_His847delinsValIleLysMet;His849_Leu855delinsIleThrSerMetProLys;Tyr857_Tyr859delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.2487del"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.2487del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Phe829LeufsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Phe829LeufsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2542,
          "referenceAllele": "T",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.2058del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:p.Phe686LeufsTer27",
        "hgvsWellDefined": "ENSP00000497441.1:p.[Phe686_Gln688delinsLeuLeuSer;Arg690Val;Gly692_Glu693delinsValLys;Val695_Leu697delinsCysIle;Asn699_His704delinsValIleLysMet;His706_Leu712delinsIleThrSerMetProLys;Tyr714_Tyr716delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2520,
          "referenceAllele": "T",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Phe829LeufsTer16",
        "hgvsWellDefined": "ENSP00000251081.6:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_His842delinsValLysAsnProLeuGluAsp;Ile845Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2931,
          "referenceAllele": "T",
          "start": 2930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Phe829LeufsTer27",
        "hgvsWellDefined": "ENSP00000280904.6:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_Glu836delinsValLys;Val838_Leu840delinsCysIle;Asn842_His847delinsValIleLysMet;His849_Leu855delinsIleThrSerMetProLys;Tyr857_Tyr859delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2948,
          "referenceAllele": "T",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Phe829LeufsTer16",
        "hgvsWellDefined": "NP_004940.1:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_His842delinsValLysAsnProLeuGluAsp;Ile845Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2948,
          "referenceAllele": "T",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Phe829LeufsTer27",
        "hgvsWellDefined": "NP_077740.1:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_Glu836delinsValLys;Val838_Leu840delinsCysIle;Asn842_His847delinsValIleLysMet;His849_Leu855delinsIleThrSerMetProLys;Tyr857_Tyr859delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2459,
          "referenceAllele": "T",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.2058del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Phe686LeufsTer27",
        "hgvsWellDefined": "XP_005258263.1:p.[Phe686_Gln688delinsLeuLeuSer;Arg690Val;Gly692_Glu693delinsValLys;Val695_Leu697delinsCysIle;Asn699_His704delinsValIleLysMet;His706_Leu712delinsIleThrSerMetProLys;Tyr714_Tyr716delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.2058del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Phe686LeufsTer27",
        "hgvsWellDefined": "XP_005258263.1:p.[Phe686_Gln688delinsLeuLeuSer;Arg690Val;Gly692_Glu693delinsValLys;Val695_Leu697delinsCysIle;Asn699_His704delinsValIleLysMet;His706_Leu712delinsIleThrSerMetProLys;Tyr714_Tyr716delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Phe829LeufsTer16",
        "hgvsWellDefined": "NP_004940.1:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_His842delinsValLysAsnProLeuGluAsp;Ile845Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.2487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Phe829LeufsTer27",
        "hgvsWellDefined": "NP_077740.1:p.[Phe829_Gln831delinsLeuLeuSer;Arg833Val;Gly835_Glu836delinsValLys;Val838_Leu840delinsCysIle;Asn842_His847delinsValIleLysMet;His849_Leu855delinsIleThrSerMetProLys;Tyr857_Tyr859delinsMetSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.2487del"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.2487del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Phe829LeufsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Phe829LeufsTer27"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}