{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140825338",
  "communityStandardTitle": [
    "NM_130398.4(EXO1):c.1268-1071A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72755295",
        "rs": 72755295
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 241870961,
          "referenceAllele": "A",
          "start": 241870960
        }
      ],
      "hgvs": [
        "NC_000001.11:g.241870961A=",
        "CM000663.2:g.241870961A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 242034263,
          "referenceAllele": "A",
          "start": 242034262
        }
      ],
      "hgvs": [
        "NC_000001.10:g.242034263A=",
        "CM000663.1:g.242034263A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 240100886,
          "referenceAllele": "A",
          "start": 240100885
        }
      ],
      "hgvs": [
        "NC_000001.9:g.240100886A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27771,
          "referenceAllele": "A",
          "start": 27770
        }
      ],
      "hgvs": [
        "NG_029100.1:g.27771A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27771,
          "referenceAllele": "A",
          "start": 27770
        }
      ],
      "hgvs": [
        "NG_029100.2:g.27771A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673770"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1836,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000366548.8:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355506.3:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366548.8:c.1268-1071A="
          },
          "RefSeq": {
            "hgvs": "NM_130398.4:c.1268-1071A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355506.3:n.1268-1071A="
          },
          "RefSeq": {
            "hgvs": "NP_569082.2:n.1268-1071A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000348581.9:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311873.5:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1860,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000366548.7:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355506.3:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1481,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000518483.5:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430251.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_003686.4:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003677.4:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_006027.4:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006018.4:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1849,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1849,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_130398.3:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "NP_569082.2:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "endIntronDirection": "-",
          "endIntronOffset": 1073,
          "referenceAllele": "A",
          "start": 1746,
          "startIntronDirection": "-",
          "startIntronOffset": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_005273350.2:c.1268-1074A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273407.1:n.1268-1074A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_006711840.1:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711903.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1746,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544321.1:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542623.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1815,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544322.1:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542624.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 1073,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544323.1:c.1268-1074A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542625.1:n.1268-1074A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1732,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544324.1:c.1148-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542626.1:n.1148-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544325.1:c.305-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542627.1:n.305-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544326.1:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542628.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XR_949162.1:n.1853-1071A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "endIntronDirection": "-",
          "endIntronOffset": 1073,
          "referenceAllele": "A",
          "start": 1744,
          "startIntronDirection": "-",
          "startIntronOffset": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_001319224.1:c.1268-1074A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001306153.1:n.1268-1074A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_006711840.2:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711903.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1744,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544321.2:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542623.1:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 1073,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544323.2:c.1268-1074A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542625.1:n.1268-1074A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1732,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544324.2:c.1148-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542626.1:n.1148-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544325.2:c.305-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542627.1:n.305-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1624,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1624,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_017002793.2:c.1148-1071A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016858282.1:n.1148-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "endIntronDirection": "-",
          "endIntronOffset": 1070,
          "referenceAllele": "A",
          "start": 1836,
          "startIntronDirection": "-",
          "startIntronOffset": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_130398.4:c.1268-1071A="
      ],
      "proteinEffect": {
        "hgvs": "NP_569082.2:n.1268-1071A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366548.8:c.1268-1071A="
          },
          "RefSeq": {
            "hgvs": "NM_130398.4:c.1268-1071A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355506.3:n.1268-1071A="
          },
          "RefSeq": {
            "hgvs": "NP_569082.2:n.1268-1071A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1731,
          "endIntronDirection": "-",
          "endIntronOffset": 1073,
          "referenceAllele": "A",
          "start": 1731,
          "startIntronDirection": "-",
          "startIntronOffset": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_001319224.2:c.1268-1074A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001306153.1:n.1268-1074A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717693"
    }
  ],
  "type": "nucleotide"
}