{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249282",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.274A>G (p.Asn92Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132950[alleleid]",
        "alleleId": 132950,
        "preferredName": "NM_000057.4(BLM):c.274A>G (p.Asn92Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127493",
        "RCV": [
          "RCV000203080",
          "RCV000462198",
          "RCV000561733",
          "RCV000656777"
        ],
        "variationId": 127493
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91292772-A-G",
        "id": "15-91292772-A-G",
        "variant": "15:91292772 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91292772A>G?assembly=hg19",
        "id": "chr15:g.91292772A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90749542A>G?assembly=hg38",
        "id": "chr15:g.90749542A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200690226",
        "rs": 200690226
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91292772-A-G?dataset=gnomad_r2_1",
        "id": "15-91292772-A-G",
        "variant": "15:91292772 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90749542-A-G?dataset=gnomad_r3",
        "id": "15-90749542-A-G",
        "variant": "15:90749542 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90749542-A-G?dataset=gnomad_r4",
        "id": "15-90749542-A-G",
        "variant": "15:90749542 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90749542,
          "referenceAllele": "A",
          "start": 90749541
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90749542A>G",
        "CM000677.2:g.90749542A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91292772,
          "referenceAllele": "A",
          "start": 91292771
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91292772A>G",
        "CM000677.1:g.91292772A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89093776,
          "referenceAllele": "A",
          "start": 89093775
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89093776A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37171,
          "referenceAllele": "A",
          "start": 37170
        }
      ],
      "hgvs": [
        "NG_007272.1:g.37171A>G",
        "LRG_20:g.37171A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000347232.3:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.274A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.274A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Asn92Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Asn92Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000497646.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "A",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000506117.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000506682.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000347232.3:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "A",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559282.1:n.448A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000453359.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 325,
          "referenceAllele": "A",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Asn92Asp",
        "hgvsWellDefined": "ENSP00000454158.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249284",
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Asn92Asp",
        "hgvsWellDefined": "NP_000048.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736168",
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "referenceAllele": "A",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Asn92Asp",
        "hgvsWellDefined": "NP_001274175.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015651",
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Asn92Asp",
        "hgvsWellDefined": "NP_001274176.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-1018A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "referenceAllele": "A",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Asn92Asp",
        "hgvsWellDefined": "XP_011520184.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "referenceAllele": "A",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Asn92Asp",
        "hgvsWellDefined": "XP_011520184.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249284",
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Asn92Asp",
        "hgvsWellDefined": "NP_000048.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.274A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.274A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Asn92Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Asn92Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736168",
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Asn92Asp",
        "hgvsWellDefined": "NP_001274175.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015651",
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Asn92Asp",
        "hgvsWellDefined": "NP_001274176.1:p.Asn92Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-1018A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}