{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2276860789",
  "communityStandardTitle": [
    "NM_001168.3(BIRC5):c.*571T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1042489",
        "rs": 1042489
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78224125,
          "referenceAllele": "T",
          "start": 78224124
        }
      ],
      "hgvs": [
        "NC_000017.11:g.78224125T=",
        "CM000679.2:g.78224125T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 76220206,
          "referenceAllele": "T",
          "start": 76220205
        }
      ],
      "hgvs": [
        "NC_000017.10:g.76220206T=",
        "CM000679.1:g.76220206T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73731801,
          "referenceAllele": "T",
          "start": 73731800
        }
      ],
      "hgvs": [
        "NC_000017.9:g.73731801T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14930,
          "referenceAllele": "T",
          "start": 14929
        }
      ],
      "hgvs": [
        "NG_029069.1:g.14930T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004241"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "ENST00000350051.8:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324180.4:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350051.8:c.*571T="
          },
          "RefSeq": {
            "hgvs": "NM_001168.3:c.*571T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324180.4:n.*571T="
          },
          "RefSeq": {
            "hgvs": "NP_001159.2:n.*571T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "T",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "ENST00000301633.8:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301633.3:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "ENST00000350051.7:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324180.4:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "T",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "ENST00000374948.6:c.*468T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364086.1:n.*468T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "NM_001012270.1:c.*468T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001012270.1:n.*468T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "referenceAllele": "T",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "NM_001012271.1:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001012271.1:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "T",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "NM_001168.2:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159.2:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "T",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "XR_243654.3:n.1202T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "T",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "XR_934452.1:n.1271T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "T",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "XR_243654.5:n.1202T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "T",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "XR_934452.3:n.1271T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "NM_001168.3:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159.2:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350051.8:c.*571T="
          },
          "RefSeq": {
            "hgvs": "NM_001168.3:c.*571T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324180.4:n.*571T="
          },
          "RefSeq": {
            "hgvs": "NP_001159.2:n.*571T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "T",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "NM_001012270.2:c.*468T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001012270.1:n.*468T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1133,
          "referenceAllele": "T",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000593",
      "geneNCBI_id": 332,
      "geneSymbol": "BIRC5",
      "hgvs": [
        "NM_001012271.2:c.*571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001012271.1:n.*571T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675412"
    }
  ],
  "type": "nucleotide"
}