{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021962",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.3059_3062del (p.Glu1020AlafsTer18)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198007[alleleid]",
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        "RCV": [
          "RCV000208503",
          "RCV000242452",
          "RCV000496000",
          "RCV000560883",
          "RCV000852476",
          "RCV002223806",
          "RCV003996627"
        ],
        "variationId": 199827
      }
    ],
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      }
    ],
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        "@id": "http://myvariant.info/v1/variant/chr18:g.29126408_29126411del?assembly=hg19",
        "id": "chr18:g.29126408_29126411del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.29126404_29126407del?assembly=hg19",
        "id": "chr18:g.29126404_29126407del"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31546445_31546448del?assembly=hg38",
        "id": "chr18:g.31546445_31546448del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31546441_31546444del?assembly=hg38",
        "id": "chr18:g.31546441_31546444del"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516706",
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      }
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        "@id": "http://gnomad.broadinstitute.org/variant/18-29126403-AAGAG-A?dataset=gnomad_r2_1",
        "id": "18-29126403-AAGAG-A",
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      }
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        "id": "18-31546440-AAGAG-A",
        "variant": "18:31546440 AAGAG / A"
      }
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31546440-AAGAG-A?dataset=gnomad_r4",
        "id": "18-31546440-AAGAG-A",
        "variant": "18:31546440 AAGAG / A"
      }
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      "chromosome": "18",
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          "allele": "",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
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        {
          "allele": "",
          "end": 29126411,
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          "start": 29126407
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 27380409,
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          "start": 27380405
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53207,
          "referenceAllele": "AGAG",
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        "LRG_397:g.53204_53207del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
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      "coordinates": [
        {
          "allele": "",
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        }
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      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
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        "hgvsWellDefined": "ENSP00000261590.8:p.[Glu1020Ala;Phe1022del;Ala1024Pro;Ser1026_Gly1028delinsAlaGln;Gln1030_Thr1032delinsCysSerLeu;Ala1034_Asn1037delinsTrpProCysLeu;Ala1039_Val1050del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
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        "maneStatus": "MANE Select",
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            "hgvs": "ENSP00000261590.8:p.Glu1020AlafsTer18"
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          "RefSeq": {
            "hgvs": "NP_001934.2:p.Glu1020AlafsTer18"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN003049",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3250,
          "referenceAllele": "AGAG",
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      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.3059_3062del",
        "LRG_397t1:c.3059_3062del"
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      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Glu1020AlafsTer18",
        "hgvsWellDefined": "NP_001934.2:p.[Glu1020Ala;Phe1022del;Ala1024Pro;Ser1026_Gly1028delinsAlaGln;Gln1030_Thr1032delinsCysSerLeu;Ala1034_Asn1037delinsTrpProCysLeu;Ala1039_Val1050del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1345,
          "endIntronDirection": "-",
          "endIntronOffset": 534,
          "referenceAllele": "CTCT",
          "start": 1345,
          "startIntronDirection": "-",
          "startIntronOffset": 538
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      ],
      "gene": "http://reg.genome.network/gene/GN051311",
      "geneNCBI_id": 100652770,
      "geneSymbol": "DSG2-AS1",
      "hgvs": [
        "NR_045216.1:n.1346-538_1346-535del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051299"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3310,
          "referenceAllele": "AGAG",
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      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.3059_3062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Glu1020AlafsTer18",
        "hgvsWellDefined": "NP_001934.2:p.[Glu1020Ala;Phe1022del;Ala1024Pro;Ser1026_Gly1028delinsAlaGln;Gln1030_Thr1032delinsCysSerLeu;Ala1034_Asn1037delinsTrpProCysLeu;Ala1039_Val1050del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Glu842AlafsTer18",
        "hgvsWellDefined": "XP_024306863.1:p.[Glu842Ala;Phe844del;Ala846Pro;Ser848_Gly850delinsAlaGln;Gln852_Thr854delinsCysSerLeu;Ala856_Asn859delinsTrpProCysLeu;Ala861_Val872del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "coordinates": [
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      "hgvs": [
        "NM_001943.5:c.3059_3062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Glu1020AlafsTer18",
        "hgvsWellDefined": "NP_001934.2:p.[Glu1020Ala;Phe1022del;Ala1024Pro;Ser1026_Gly1028delinsAlaGln;Gln1030_Thr1032delinsCysSerLeu;Ala1034_Asn1037delinsTrpProCysLeu;Ala1039_Val1050del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Glu1020AlafsTer18"
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          "RefSeq": {
            "hgvs": "NP_001934.2:p.Glu1020AlafsTer18"
          }
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      }
    }
  ],
  "type": "nucleotide"
}