{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2209082853",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2478G= (p.Ala826=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1417783312",
        "rs": 1417783312
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13948074,
          "referenceAllele": "G",
          "start": 13948073
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948074G=",
        "CM000678.2:g.13948074G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041931,
          "referenceAllele": "G",
          "start": 14041930
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041931G=",
        "CM000678.1:g.14041931G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949432,
          "referenceAllele": "G",
          "start": 13949431
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949432G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32918,
          "referenceAllele": "G",
          "start": 32917
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32918G=",
        "LRG_463:g.32918G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2644,
          "referenceAllele": "G",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2616G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ala872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2598,
          "referenceAllele": "G",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2172G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2172G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2490,
          "referenceAllele": "G",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2478G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2478G="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2478G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala826="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala826="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2478G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1755G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592038",
      "coordinates": [
        {
          "allele": "G",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2478G=",
        "LRG_463t1:c.2478G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2637,
          "referenceAllele": "G",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2616G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3170,
          "referenceAllele": "G",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1935G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ala645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1689G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ala563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1624,
          "referenceAllele": "G",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1128G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ala376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2637,
          "referenceAllele": "G",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2637G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2645,
          "referenceAllele": "G",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2616G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2609,
          "referenceAllele": "G",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1689G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ala563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592038",
      "coordinates": [
        {
          "allele": "G",
          "end": 2490,
          "referenceAllele": "G",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2478G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2478G="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2478G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala826="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala826="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}