{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2838479810",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2468dup (p.Asp824Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13948064,
          "referenceAllele": "",
          "start": 13948064
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948064dup",
        "CM000678.2:g.13948064dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041921,
          "referenceAllele": "",
          "start": 14041921
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041921dup",
        "CM000678.1:g.14041921dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949422,
          "referenceAllele": "",
          "start": 13949422
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949422dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32908,
          "referenceAllele": "",
          "start": 32908
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32908dup",
        "LRG_463:g.32908dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "referenceAllele": "",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2606dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Asp870Ter",
        "hgvsWellDefined": "ENSP00000507912.1:p.Asp870_Leu898del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2588,
          "referenceAllele": "",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2162dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2162dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2480,
          "referenceAllele": "",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2468dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Asp824Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Asp824_Leu852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2468dup"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2468dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Asp824Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Asp824Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2477,
          "referenceAllele": "",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2468dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Asp824Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Asp824_Leu852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1745dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2477,
          "referenceAllele": "",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2468dup",
        "LRG_463t1:c.2468dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Asp824Ter",
        "hgvsWellDefined": "NP_005227.1:p.Asp824_Leu852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2627,
          "referenceAllele": "",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2606dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Asp870Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Asp870_Leu898del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3160,
          "referenceAllele": "",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1925dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Asp643Ter",
        "hgvsWellDefined": "XP_011520727.1:p.Asp643_Leu671del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1679dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Asp561Ter",
        "hgvsWellDefined": "XP_011520728.1:p.Asp561_Leu589del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1614,
          "referenceAllele": "",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1118dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Asp374Ter",
        "hgvsWellDefined": "XP_011520729.1:p.Asp374_Leu402del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2627,
          "referenceAllele": "",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2627dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2635,
          "referenceAllele": "",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2606dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Asp870Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Asp870_Leu898del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2599,
          "referenceAllele": "",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1679dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Asp561Ter",
        "hgvsWellDefined": "XP_016878532.1:p.Asp561_Leu589del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2480,
          "referenceAllele": "",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2468dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Asp824Ter",
        "hgvsWellDefined": "NP_005227.1:p.Asp824_Leu852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2468dup"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2468dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Asp824Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Asp824Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}