{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2739268639",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.876_877delinsTG (p.Ile293Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3032424[alleleid]",
        "alleleId": 3032424,
        "preferredName": "NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2873709",
        "RCV": [
          "RCV003632325"
        ],
        "variationId": 2873709
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "TG",
          "end": 31524751,
          "referenceAllele": "CA",
          "start": 31524749
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31524750_31524751delinsTG",
        "CM000680.2:g.31524750_31524751delinsTG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "TG",
          "end": 29104714,
          "referenceAllele": "CA",
          "start": 29104712
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29104713_29104714delinsTG",
        "CM000680.1:g.29104713_29104714delinsTG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "TG",
          "end": 27358712,
          "referenceAllele": "CA",
          "start": 27358710
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27358711_27358712delinsTG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 31510,
          "referenceAllele": "CA",
          "start": 31508
        }
      ],
      "hgvs": [
        "NG_007072.3:g.31509_31510delinsTG",
        "LRG_397:g.31509_31510delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 708,
          "referenceAllele": "CA",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000682087.2:n.707_708delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914463"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 708,
          "referenceAllele": "CA",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.2:n.707_708delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914466"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 708,
          "referenceAllele": "CA",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000682087.1:c.707_708delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827084"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 708,
          "referenceAllele": "CA",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.1:c.707_708delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828586"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 952,
          "referenceAllele": "CA",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.876_877delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Ile293Val",
        "hgvsWellDefined": "ENSP00000261590.8:p.Ile293Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.876_877delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.876_877delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Ile293Val"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Ile293Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1086,
          "referenceAllele": "CA",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.876_877delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Ile293Val",
        "hgvsWellDefined": "ENSP00000261590.8:p.Ile293Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA133990",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1065,
          "referenceAllele": "CA",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.876_877delinsTG",
        "LRG_397t1:c.876_877delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Ile293Val",
        "hgvsWellDefined": "NP_001934.2:p.Ile293Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA133990",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1125,
          "referenceAllele": "CA",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.876_877delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Ile293Val",
        "hgvsWellDefined": "NP_001934.2:p.Ile293Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 851,
          "referenceAllele": "CA",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.342_343delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Ile115Val",
        "hgvsWellDefined": "XP_024306863.1:p.Ile115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA133990",
      "coordinates": [
        {
          "allele": "TG",
          "end": 952,
          "referenceAllele": "CA",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.876_877delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Ile293Val",
        "hgvsWellDefined": "NP_001934.2:p.Ile293Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.876_877delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.876_877delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Ile293Val"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Ile293Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}