{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393847094",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.3211-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3026052[alleleid]",
        "alleleId": 3026052,
        "preferredName": "NM_000057.4(BLM):c.3211-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2862402",
        "RCV": [
          "RCV003614896"
        ],
        "variationId": 2862402
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91341418A>G?assembly=hg19",
        "id": "chr15:g.91341418A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90798188A>G?assembly=hg38",
        "id": "chr15:g.90798188A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1227297747",
        "rs": 1227297747
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90798188-A-G?dataset=gnomad_r3",
        "id": "15-90798188-A-G",
        "variant": "15:90798188 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90798188-A-G?dataset=gnomad_r4",
        "id": "15-90798188-A-G",
        "variant": "15:90798188 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90798188,
          "referenceAllele": "A",
          "start": 90798187
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90798188A>G",
        "CM000677.2:g.90798188A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91341418,
          "referenceAllele": "A",
          "start": 91341417
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91341418A>G",
        "CM000677.1:g.91341418A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89142422,
          "referenceAllele": "A",
          "start": 89142421
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89142422A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85817,
          "referenceAllele": "A",
          "start": 85816
        }
      ],
      "hgvs": [
        "NG_007272.1:g.85817A>G",
        "LRG_20:g.85817A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3309,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3309,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3211-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3211-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:n.3211-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:n.3211-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1783,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1783,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.1784-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3292,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3292,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3286,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3286,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3292,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3292,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3328,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3328,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.558-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3417,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3417,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2135-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2135-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1236,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.1237-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3328,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3328,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3328,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3328,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2086-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.2086-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1387,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.1249-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:n.1249-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2338,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2338,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.1897-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.1897-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2363,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.1897-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.1897-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3309,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3309,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3211-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3211-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:n.3211-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:n.3211-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3419,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3419,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3309,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3309,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.3211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3475,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3475,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2086-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.2086-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}