{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA287097",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132955[alleleid]",
        "alleleId": 132955,
        "preferredName": "NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127498",
        "RCV": [
          "RCV000115306",
          "RCV000542140",
          "RCV000567551"
        ],
        "variationId": 127498
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91346789-A-G",
        "id": "15-91346789-A-G",
        "variant": "15:91346789 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91346789A>G?assembly=hg19",
        "id": "chr15:g.91346789A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90803559A>G?assembly=hg38",
        "id": "chr15:g.90803559A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145027663",
        "rs": 145027663
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91346789-A-G?dataset=gnomad_r2_1",
        "id": "15-91346789-A-G",
        "variant": "15:91346789 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90803559-A-G?dataset=gnomad_r3",
        "id": "15-90803559-A-G",
        "variant": "15:90803559 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90803559-A-G?dataset=gnomad_r4",
        "id": "15-90803559-A-G",
        "variant": "15:90803559 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90803559,
          "referenceAllele": "A",
          "start": 90803558
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90803559A>G",
        "CM000677.2:g.90803559A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91346789,
          "referenceAllele": "A",
          "start": 91346788
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91346789A>G",
        "CM000677.1:g.91346789A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89147793,
          "referenceAllele": "A",
          "start": 89147792
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89147793A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91188,
          "referenceAllele": "A",
          "start": 91187
        }
      ],
      "hgvs": [
        "NG_007272.1:g.91188A>G",
        "LRG_20:g.91188A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3496,
          "referenceAllele": "A",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys1133Glu",
        "hgvsWellDefined": "ENSP00000347232.3:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3397A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3397A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys1133Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys1133Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.1970A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3479,
          "referenceAllele": "A",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Lys1133Glu",
        "hgvsWellDefined": "ENSP00000497646.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3473,
          "referenceAllele": "A",
          "start": 3472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Lys1133Glu",
        "hgvsWellDefined": "ENSP00000506117.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3479,
          "referenceAllele": "A",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Lys1133Glu",
        "hgvsWellDefined": "ENSP00000506682.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3515,
          "referenceAllele": "A",
          "start": 3514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys1133Glu",
        "hgvsWellDefined": "ENSP00000347232.3:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.744A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3604,
          "referenceAllele": "A",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2321A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2321A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1423,
          "referenceAllele": "A",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.1423A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3409,
          "endIntronDirection": "+",
          "endIntronOffset": 5222,
          "referenceAllele": "A",
          "start": 3409,
          "startIntronDirection": "+",
          "startIntronOffset": 5221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3358+5222A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:n.3358+5222A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287099",
      "coordinates": [
        {
          "allele": "G",
          "end": 3515,
          "referenceAllele": "A",
          "start": 3514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys1133Glu",
        "hgvsWellDefined": "NP_000048.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738471",
      "coordinates": [
        {
          "allele": "G",
          "end": 3625,
          "referenceAllele": "A",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys1133Glu",
        "hgvsWellDefined": "NP_001274175.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3476,
          "endIntronDirection": "+",
          "endIntronOffset": 5222,
          "referenceAllele": "A",
          "start": 3476,
          "startIntronDirection": "+",
          "startIntronOffset": 5221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3358+5222A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.3358+5222A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016523",
      "coordinates": [
        {
          "allele": "G",
          "end": 3681,
          "referenceAllele": "A",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2272A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Lys758Glu",
        "hgvsWellDefined": "NP_001274177.1:p.Lys758Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1574,
          "referenceAllele": "A",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.1435A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Lys479Glu",
        "hgvsWellDefined": "XP_006720695.1:p.Lys479Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2525,
          "referenceAllele": "A",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.2083A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Lys695Glu",
        "hgvsWellDefined": "XP_011520183.1:p.Lys695Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "A",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.2083A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Lys695Glu",
        "hgvsWellDefined": "XP_011520183.1:p.Lys695Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287099",
      "coordinates": [
        {
          "allele": "G",
          "end": 3496,
          "referenceAllele": "A",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys1133Glu",
        "hgvsWellDefined": "NP_000048.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3397A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3397A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys1133Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys1133Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738471",
      "coordinates": [
        {
          "allele": "G",
          "end": 3606,
          "referenceAllele": "A",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3397A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys1133Glu",
        "hgvsWellDefined": "NP_001274175.1:p.Lys1133Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3457,
          "endIntronDirection": "+",
          "endIntronOffset": 5222,
          "referenceAllele": "A",
          "start": 3457,
          "startIntronDirection": "+",
          "startIntronOffset": 5221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3358+5222A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.3358+5222A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016523",
      "coordinates": [
        {
          "allele": "G",
          "end": 3662,
          "referenceAllele": "A",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2272A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Lys758Glu",
        "hgvsWellDefined": "NP_001274177.1:p.Lys758Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}