{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA913188920",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.3061_3062dup (p.Ser1021ArgfsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=914598[alleleid]",
        "alleleId": 914598,
        "preferredName": "NM_001943.5(DSG2):c.3061_3062dup (p.Ser1021fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/922221",
        "RCV": [
          "RCV001182153"
        ],
        "variationId": 922221
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516706",
        "rs": 397516706
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "AG",
          "end": 31546448,
          "referenceAllele": "",
          "start": 31546448
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31546447_31546448dup",
        "CM000680.2:g.31546447_31546448dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "AG",
          "end": 29126411,
          "referenceAllele": "",
          "start": 29126411
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29126410_29126411dup",
        "CM000680.1:g.29126410_29126411dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "AG",
          "end": 27380409,
          "referenceAllele": "",
          "start": 27380409
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27380408_27380409dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 53207,
          "referenceAllele": "",
          "start": 53207
        }
      ],
      "hgvs": [
        "NG_007072.3:g.53206_53207dup",
        "LRG_397:g.53206_53207dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3137,
          "referenceAllele": "",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.3061_3062dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Ser1021ArgfsTer19",
        "hgvsWellDefined": "ENSP00000261590.8:p.[Ser1021_Leu1023delinsArg;Pro1025del;Ser1027_Gln1030delinsLeuPro;Thr1032_Leu1033del;Met1035_Ala1039delinsGln;Gly1041_Val1050delinsCysSerLeuLeuTrpProCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.3061_3062dup"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.3061_3062dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Ser1021ArgfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Ser1021ArgfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3271,
          "referenceAllele": "",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.3061_3062dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Ser1021ArgfsTer19",
        "hgvsWellDefined": "ENSP00000261590.8:p.[Ser1021_Leu1023delinsArg;Pro1025del;Ser1027_Gln1030delinsLeuPro;Thr1032_Leu1033del;Met1035_Ala1039delinsGln;Gly1041_Val1050delinsCysSerLeuLeuTrpProCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3250,
          "referenceAllele": "",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.3061_3062dup",
        "LRG_397t1:c.3061_3062dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Ser1021ArgfsTer19",
        "hgvsWellDefined": "NP_001934.2:p.[Ser1021_Leu1023delinsArg;Pro1025del;Ser1027_Gln1030delinsLeuPro;Thr1032_Leu1033del;Met1035_Ala1039delinsGln;Gly1041_Val1050delinsCysSerLeuLeuTrpProCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1345,
          "endIntronDirection": "-",
          "endIntronOffset": 534,
          "referenceAllele": "",
          "start": 1345,
          "startIntronDirection": "-",
          "startIntronOffset": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051311",
      "geneNCBI_id": 100652770,
      "geneSymbol": "DSG2-AS1",
      "hgvs": [
        "NR_045216.1:n.1346-536_1346-535dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051299"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3310,
          "referenceAllele": "",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.3061_3062dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Ser1021ArgfsTer19",
        "hgvsWellDefined": "NP_001934.2:p.[Ser1021_Leu1023delinsArg;Pro1025del;Ser1027_Gln1030delinsLeuPro;Thr1032_Leu1033del;Met1035_Ala1039delinsGln;Gly1041_Val1050delinsCysSerLeuLeuTrpProCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3036,
          "referenceAllele": "",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.2527_2528dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Ser843ArgfsTer19",
        "hgvsWellDefined": "XP_024306863.1:p.[Ser843_Leu845delinsArg;Pro847del;Ser849_Gln852delinsLeuPro;Thr854_Leu855del;Met857_Ala861delinsGln;Gly863_Val872delinsCysSerLeuLeuTrpProCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3137,
          "referenceAllele": "",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.3061_3062dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Ser1021ArgfsTer19",
        "hgvsWellDefined": "NP_001934.2:p.[Ser1021_Leu1023delinsArg;Pro1025del;Ser1027_Gln1030delinsLeuPro;Thr1032_Leu1033del;Met1035_Ala1039delinsGln;Gly1041_Val1050delinsCysSerLeuLeuTrpProCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.3061_3062dup"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.3061_3062dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Ser1021ArgfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Ser1021ArgfsTer19"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}