{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7738612",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1883-1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2140175",
        "active": true,
        "id": "COSM2140175"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056273[alleleid]",
        "alleleId": 1056273,
        "preferredName": "NM_000057.4(BLM):c.1883-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1068276",
        "RCV": [
          "RCV001379778"
        ],
        "variationId": 1068276
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91306195-G-A",
        "id": "15-91306195-G-A",
        "variant": "15:91306195 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91306195G>A?assembly=hg19",
        "id": "chr15:g.91306195G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90762965G>A?assembly=hg38",
        "id": "chr15:g.90762965G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772230310",
        "rs": 772230310
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91306195-G-A?dataset=gnomad_r2_1",
        "id": "15-91306195-G-A",
        "variant": "15:91306195 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90762965-G-A?dataset=gnomad_r4",
        "id": "15-90762965-G-A",
        "variant": "15:90762965 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 90762965,
          "referenceAllele": "G",
          "start": 90762964
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90762965G>A",
        "CM000677.2:g.90762965G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 91306195,
          "referenceAllele": "G",
          "start": 91306194
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91306195G>A",
        "CM000677.1:g.91306195G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89107199,
          "referenceAllele": "G",
          "start": 89107198
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89107199G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50594,
          "referenceAllele": "G",
          "start": 50593
        }
      ],
      "hgvs": [
        "NG_007272.1:g.50594G>A",
        "LRG_20:g.50594G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1981,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1883-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1883-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:n.1883-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:n.1883-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1964,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1958,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1958,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1964,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2000,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559426.5:n.60-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2089,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2089,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*807-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*807-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 27,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.28-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1933,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2000,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2110,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2000,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2166,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.758-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.758-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.-80-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:n.-80-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1010,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.569-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.569-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1988,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1988,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.569-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.569-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1929,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1929,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1981,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1883-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1883-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:n.1883-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:n.1883-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2091,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1981,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.1883-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.1883-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.758-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.758-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}