{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274691",
  "communityStandardTitle": [
    "NM_000124.4(ERCC6):c.1850dup (p.Cys617TrpfsTer18)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188005[alleleid]",
        "alleleId": 188005,
        "preferredName": "NM_000124.4(ERCC6):c.1850dup (p.Cys617fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190148",
        "RCV": [
          "RCV000170366"
        ],
        "variationId": 190148
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.50691534dupC?assembly=hg19",
        "id": "chr10:g.50691534dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.50691533_50691534insC?assembly=hg19",
        "id": "chr10:g.50691533_50691534insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.49483488dupC?assembly=hg38",
        "id": "chr10:g.49483488dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.49483487_49483488insC?assembly=hg38",
        "id": "chr10:g.49483487_49483488insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205167",
        "rs": 786205167
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 49483488,
          "referenceAllele": "",
          "start": 49483488
        }
      ],
      "hgvs": [
        "NC_000010.11:g.49483488dup",
        "CM000672.2:g.49483488dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 50691534,
          "referenceAllele": "",
          "start": 50691534
        }
      ],
      "hgvs": [
        "NC_000010.10:g.50691534dup",
        "CM000672.1:g.50691534dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 50361540,
          "referenceAllele": "",
          "start": 50361540
        }
      ],
      "hgvs": [
        "NC_000010.9:g.50361540dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60614,
          "referenceAllele": "",
          "start": 60614
        }
      ],
      "hgvs": [
        "NG_009442.1:g.60614dup",
        "LRG_465:g.60614dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.10:c.1850dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Cys617TrpfsTer18",
        "hgvsWellDefined": "ENSP00000348089.5:p.[Cys617_Tyr627delinsTrpSerTrpAsnPheAspHis;Arg629Leu;Met631_Asp634delinsLeuHisSer;Ser636_Tyr638del;Trp640_Asp646delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.1850dup"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.1850dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Cys617TrpfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Cys617TrpfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1928,
          "referenceAllele": "",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681632.1:n.1928dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681659.1:c.1691dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505631.1:p.Cys564TrpfsTer18",
        "hgvsWellDefined": "ENSP00000505631.1:p.[Cys564_Tyr574delinsTrpSerTrpAsnPheAspHis;Arg576Leu;Met578_Asp581delinsLeuHisSer;Ser583_Tyr585del;Trp587_Asp593delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "referenceAllele": "",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.9:c.1850dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Cys617TrpfsTer18",
        "hgvsWellDefined": "ENSP00000348089.5:p.[Cys617_Tyr627delinsTrpSerTrpAsnPheAspHis;Arg629Leu;Met631_Asp634delinsLeuHisSer;Ser636_Tyr638del;Trp640_Asp646delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 304,
          "referenceAllele": "",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000475116.1:n.304dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6330,
          "referenceAllele": "",
          "start": 6330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623073.3:c.*242dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485650.1:n.*242dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623115.3:c.-41dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485321.1:n.-41dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623318.1:c.251dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485423.1:p.Cys84TrpfsTer18",
        "hgvsWellDefined": "ENSP00000485423.1:p.[Cys84_Tyr94delinsTrpSerTrpAsnPheAspHis;Arg96Leu;Met98_Asp101delinsLeuHisSer;Ser103_Tyr105del;Trp107_Asp113delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2026,
          "referenceAllele": "",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.3:c.1850dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Cys617TrpfsTer18",
        "hgvsWellDefined": "NP_000115.1:p.[Cys617_Tyr627delinsTrpSerTrpAsnPheAspHis;Arg629Leu;Met631_Asp634delinsLeuHisSer;Ser636_Tyr638del;Trp640_Asp646delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.1:c.1850dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Cys617TrpfsTer18",
        "hgvsWellDefined": "NP_001333369.1:p.[Cys617_Tyr627delinsTrpSerTrpAsnPheAspHis;Arg629Leu;Met631_Asp634delinsLeuHisSer;Ser636_Tyr638del;Trp640_Asp646delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.4:c.1850dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Cys617TrpfsTer18",
        "hgvsWellDefined": "NP_000115.1:p.[Cys617_Tyr627delinsTrpSerTrpAsnPheAspHis;Arg629Leu;Met631_Asp634delinsLeuHisSer;Ser636_Tyr638del;Trp640_Asp646delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.1850dup"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.1850dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Cys617TrpfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Cys617TrpfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2020,
          "referenceAllele": "",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.2:c.1850dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Cys617TrpfsTer18",
        "hgvsWellDefined": "NP_001333369.1:p.[Cys617_Tyr627delinsTrpSerTrpAsnPheAspHis;Arg629Leu;Met631_Asp634delinsLeuHisSer;Ser636_Tyr638del;Trp640_Asp646delinsAlaGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718939"
    }
  ],
  "type": "nucleotide"
}