{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2209082873",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2534A= (p.Asn845=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377562755",
        "rs": 377562755
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 13948130,
          "referenceAllele": "A",
          "start": 13948129
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948130A=",
        "CM000678.2:g.13948130A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 14041987,
          "referenceAllele": "A",
          "start": 14041986
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041987A=",
        "CM000678.1:g.14041987A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 13949488,
          "referenceAllele": "A",
          "start": 13949487
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949488A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32974,
          "referenceAllele": "A",
          "start": 32973
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32974A=",
        "LRG_463:g.32974A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2700,
          "referenceAllele": "A",
          "start": 2699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2672A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Asn891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2654,
          "referenceAllele": "A",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2228A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2228A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "A",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2534A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Asn845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2534A="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2534A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Asn845="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Asn845="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "A",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2534A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Asn845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "A",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1811A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592047",
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "A",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2534A=",
        "LRG_463t1:c.2534A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Asn845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2693,
          "referenceAllele": "A",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2672A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Asn891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3226,
          "referenceAllele": "A",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1991A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Asn664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1842,
          "referenceAllele": "A",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1745A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Asn582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1680,
          "referenceAllele": "A",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1184A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Asn395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2693,
          "referenceAllele": "A",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2693A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2701,
          "referenceAllele": "A",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2672A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Asn891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1745A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Asn582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592047",
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "A",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2534A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Asn845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2534A="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2534A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Asn845="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Asn845="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}