{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA158854",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.1421dup (p.Asp474GlufsTer2)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5990026",
        "active": true,
        "id": "COSM5990026"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137869[alleleid]",
        "alleleId": 137869,
        "preferredName": "NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134130",
        "RCV": [
          "RCV000018055",
          "RCV000120802",
          "RCV000482017",
          "RCV002255296",
          "RCV002477310"
        ],
        "variationId": 134130
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128038128-A-AT",
        "id": "2-128038128-A-AT",
        "variant": "2:128038128 A / AT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128038129dupT?assembly=hg19",
        "id": "chr2:g.128038129dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128038128_128038129insT?assembly=hg19",
        "id": "chr2:g.128038128_128038129insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127280553dupT?assembly=hg38",
        "id": "chr2:g.127280553dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127280552_127280553insT?assembly=hg38",
        "id": "chr2:g.127280552_127280553insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587778281",
        "rs": 587778281
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128038128-A-AT?dataset=gnomad_r2_1",
        "id": "2-128038128-A-AT",
        "variant": "2:128038128 A / AT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127280552-A-AT?dataset=gnomad_r3",
        "id": "2-127280552-A-AT",
        "variant": "2:127280552 A / AT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127280552-A-AT?dataset=gnomad_r4",
        "id": "2-127280552-A-AT",
        "variant": "2:127280552 A / AT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127280553,
          "referenceAllele": "",
          "start": 127280553
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127280553dup",
        "CM000664.2:g.127280553dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 128038129,
          "referenceAllele": "",
          "start": 128038129
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128038129dup",
        "CM000664.1:g.128038129dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127754599,
          "referenceAllele": "",
          "start": 127754599
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127754599dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18624,
          "referenceAllele": "",
          "start": 18624
        }
      ],
      "hgvs": [
        "NG_007454.1:g.18624dup",
        "LRG_462:g.18624dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.1421dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Asp474GlufsTer2",
        "hgvsWellDefined": "ENSP00000285398.2:p.[Asp474_Tyr489del;Ala491_Ala503del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1421dup"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1421dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Asp474GlufsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Asp474GlufsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*910dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*910dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2177,
          "referenceAllele": "",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*1633dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*1633dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.*193dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:n.*193dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645504.1:c.174dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "endIntronDirection": "-",
          "endIntronOffset": 1177,
          "referenceAllele": "",
          "start": 1198,
          "startIntronDirection": "-",
          "startIntronOffset": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.1199-1178dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:n.1199-1178dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2156,
          "referenceAllele": "",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.2156dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "referenceAllele": "",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*888dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*888dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.1496dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Asp499GlufsTer2",
        "hgvsWellDefined": "ENSP00000495619.1:p.[Asp499_Tyr514del;Ala516_Ala528del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 8784,
          "referenceAllele": "",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 8784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.395+8784dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1516,
          "referenceAllele": "",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.1421dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Asp474GlufsTer2",
        "hgvsWellDefined": "ENSP00000285398.2:p.[Asp474_Tyr489del;Ala491_Ala503del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1682,
          "referenceAllele": "",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*1402dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*1402dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1693,
          "referenceAllele": "",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*1464dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*1464dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1516,
          "referenceAllele": "",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.1421dup",
        "LRG_462t1:c.1421dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Asp474GlufsTer2",
        "hgvsWellDefined": "NP_000113.1:p.[Asp474_Tyr489del;Ala491_Ala503del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.1229dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Asp410GlufsTer2",
        "hgvsWellDefined": "NP_001290345.1:p.[Asp410_Tyr425del;Ala427_Ala439del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1693,
          "referenceAllele": "",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.1229dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Asp410GlufsTer2",
        "hgvsWellDefined": "NP_001290347.1:p.[Asp410_Tyr425del;Ala427_Ala439del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.1439dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Asp480GlufsTer2",
        "hgvsWellDefined": "XP_011509096.1:p.[Asp480_Tyr495del;Ala497_Ala509del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1369,
          "referenceAllele": "",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.983dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Asp328GlufsTer2",
        "hgvsWellDefined": "XP_011509097.1:p.[Asp328_Tyr343del;Ala345_Ala357del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.1439dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Asp480GlufsTer2",
        "hgvsWellDefined": "XP_011509096.1:p.[Asp480_Tyr495del;Ala497_Ala509del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.965dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Asp322GlufsTer2",
        "hgvsWellDefined": "XP_016859072.1:p.[Asp322_Tyr337del;Ala339_Ala351del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1421dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Asp474GlufsTer2",
        "hgvsWellDefined": "NP_000113.1:p.[Asp474_Tyr489del;Ala491_Ala503del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1421dup"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1421dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Asp474GlufsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Asp474GlufsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1681,
          "referenceAllele": "",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.1229dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Asp410GlufsTer2",
        "hgvsWellDefined": "NP_001290345.1:p.[Asp410_Tyr425del;Ala427_Ala439del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.1229dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Asp410GlufsTer2",
        "hgvsWellDefined": "NP_001290347.1:p.[Asp410_Tyr425del;Ala427_Ala439del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}