{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394803715",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.793-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=940343[alleleid]",
        "alleleId": 940343,
        "preferredName": "NM_005236.3(ERCC4):c.793-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/942911",
        "RCV": [
          "RCV001212995"
        ],
        "variationId": 942911
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14024565A>G?assembly=hg19",
        "id": "chr16:g.14024565A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13930708A>G?assembly=hg38",
        "id": "chr16:g.13930708A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2032155264",
        "rs": 2032155264
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13930708-A-G?dataset=gnomad_r4",
        "id": "16-13930708-A-G",
        "variant": "16:13930708 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13930708,
          "referenceAllele": "A",
          "start": 13930707
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13930708A>G",
        "CM000678.2:g.13930708A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14024565,
          "referenceAllele": "A",
          "start": 14024564
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14024565A>G",
        "CM000678.1:g.14024565A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13932066,
          "referenceAllele": "A",
          "start": 13932065
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13932066A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15552,
          "referenceAllele": "A",
          "start": 15551
        }
      ],
      "hgvs": [
        "NG_011442.1:g.15552A>G",
        "LRG_463:g.15552A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 780,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682552.1:n.781-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 870,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 870,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682568.1:n.871-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 958,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 958,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.931-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:n.931-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 949,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682826.1:c.*107-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507274.1:n.*107-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2832,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2832,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682909.1:n.2833-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2437,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2437,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683277.1:n.2438-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 800,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683407.1:n.801-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 912,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*487-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*487-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.793-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:n.793-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.793-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.793-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:n.793-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:n.793-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.793-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:n.793-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000574194.1:c.320-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 469,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000574781.1:n.470-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000575156.5:c.793-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459933.1:n.793-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.793-2A>G",
        "LRG_463t1:c.793-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:n.793-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.931-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:n.931-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.250-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:n.250-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.4-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:n.4-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.952-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 959,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.931-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:n.931-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 923,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.4-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:n.4-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.793-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:n.793-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.793-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.793-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:n.793-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:n.793-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}