{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3222146622",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2113G= (p.Asp705=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2543195097",
        "rs": 2543195097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13947709,
          "referenceAllele": "G",
          "start": 13947708
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947709G=",
        "CM000678.2:g.13947709G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041566,
          "referenceAllele": "G",
          "start": 14041565
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041566G=",
        "CM000678.1:g.14041566G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949067,
          "referenceAllele": "G",
          "start": 13949066
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949067G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32553,
          "referenceAllele": "G",
          "start": 32552
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32553G=",
        "LRG_463:g.32553G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2251G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Asp751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2233,
          "referenceAllele": "G",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1807G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1807G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2113G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Asp705="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2113G="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2113G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Asp705="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Asp705="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2113G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Asp705="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1390G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.426G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.426G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083617275",
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2113G=",
        "LRG_463t1:c.2113G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Asp705="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2251G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Asp751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1570G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Asp524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1324G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Asp442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Asp255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "G",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2251G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Asp751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2244,
          "referenceAllele": "G",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1324G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Asp442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083617275",
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2113G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Asp705="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2113G="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2113G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Asp705="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Asp705="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}