{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2999925325",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2288dup (p.Ser764Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13947884,
          "referenceAllele": "",
          "start": 13947884
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947884dup",
        "CM000678.2:g.13947884dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041741,
          "referenceAllele": "",
          "start": 14041741
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041741dup",
        "CM000678.1:g.14041741dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949242,
          "referenceAllele": "",
          "start": 13949242
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949242dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32728,
          "referenceAllele": "",
          "start": 32728
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32728dup",
        "LRG_463:g.32728dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2454,
          "referenceAllele": "",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2426dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ser810Ter",
        "hgvsWellDefined": "ENSP00000507912.1:p.Ser810_Thr838del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2408,
          "referenceAllele": "",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1982dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1982dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2300,
          "referenceAllele": "",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2288dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ser764Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ser764_Thr792del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2288dup"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2288dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ser764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ser764Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2288dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ser764Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ser764_Thr792del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1565dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.601dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.601dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2288dup",
        "LRG_463t1:c.2288dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ser764Ter",
        "hgvsWellDefined": "NP_005227.1:p.Ser764_Thr792del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2447,
          "referenceAllele": "",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2426dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ser810Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Ser810_Thr838del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2980,
          "referenceAllele": "",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1745dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ser583Ter",
        "hgvsWellDefined": "XP_011520727.1:p.Ser583_Thr611del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1596,
          "referenceAllele": "",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1499dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ser501Ter",
        "hgvsWellDefined": "XP_011520728.1:p.Ser501_Thr529del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1434,
          "referenceAllele": "",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.938dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ser314Ter",
        "hgvsWellDefined": "XP_011520729.1:p.Ser314_Thr342del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2447,
          "referenceAllele": "",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2447dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2455,
          "referenceAllele": "",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2426dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ser810Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Ser810_Thr838del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2419,
          "referenceAllele": "",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1499dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ser501Ter",
        "hgvsWellDefined": "XP_016878532.1:p.Ser501_Thr529del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2300,
          "referenceAllele": "",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2288dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ser764Ter",
        "hgvsWellDefined": "NP_005227.1:p.Ser764_Thr792del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2288dup"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2288dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ser764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ser764Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}