{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7739172",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643723[alleleid]",
        "alleleId": 643723,
        "preferredName": "NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/643038",
        "RCV": [
          "RCV000796643",
          "RCV001021582"
        ],
        "variationId": 643038
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91354545-A-G",
        "id": "15-91354545-A-G",
        "variant": "15:91354545 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91354545A>G?assembly=hg19",
        "id": "chr15:g.91354545A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90811315A>G?assembly=hg38",
        "id": "chr15:g.90811315A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190652985",
        "rs": 190652985
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91354545-A-G?dataset=gnomad_r2_1",
        "id": "15-91354545-A-G",
        "variant": "15:91354545 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90811315-A-G?dataset=gnomad_r3",
        "id": "15-90811315-A-G",
        "variant": "15:90811315 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90811315-A-G?dataset=gnomad_r4",
        "id": "15-90811315-A-G",
        "variant": "15:90811315 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90811315,
          "referenceAllele": "A",
          "start": 90811314
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90811315A>G",
        "CM000677.2:g.90811315A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91354545,
          "referenceAllele": "A",
          "start": 91354544
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91354545A>G",
        "CM000677.1:g.91354545A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89155549,
          "referenceAllele": "A",
          "start": 89155548
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89155549A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98944,
          "referenceAllele": "A",
          "start": 98943
        }
      ],
      "hgvs": [
        "NG_007272.1:g.98944A>G",
        "LRG_20:g.98944A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4084,
          "referenceAllele": "A",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys1329Glu",
        "hgvsWellDefined": "ENSP00000347232.3:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3985A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3985A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys1329Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys1329Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2558,
          "referenceAllele": "A",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.2558A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Lys1329Glu",
        "hgvsWellDefined": "ENSP00000497646.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4061,
          "referenceAllele": "A",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Lys1329Glu",
        "hgvsWellDefined": "ENSP00000506117.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Lys1329Glu",
        "hgvsWellDefined": "ENSP00000506682.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4103,
          "referenceAllele": "A",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys1329Glu",
        "hgvsWellDefined": "ENSP00000347232.3:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "A",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.1332A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4192,
          "referenceAllele": "A",
          "start": 4191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2909A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2909A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "A",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.2011A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3643,
          "referenceAllele": "A",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3592A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Lys1198Glu",
        "hgvsWellDefined": "ENSP00000454158.1:p.Lys1198Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "A",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560821.1:n.405A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042043",
      "coordinates": [
        {
          "allele": "G",
          "end": 4103,
          "referenceAllele": "A",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys1329Glu",
        "hgvsWellDefined": "NP_000048.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738876",
      "coordinates": [
        {
          "allele": "G",
          "end": 4213,
          "referenceAllele": "A",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys1329Glu",
        "hgvsWellDefined": "NP_001274175.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740143",
      "coordinates": [
        {
          "allele": "G",
          "end": 3710,
          "referenceAllele": "A",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3592A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys1198Glu",
        "hgvsWellDefined": "NP_001274176.1:p.Lys1198Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016648",
      "coordinates": [
        {
          "allele": "G",
          "end": 4269,
          "referenceAllele": "A",
          "start": 4268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2860A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Lys954Glu",
        "hgvsWellDefined": "NP_001274177.1:p.Lys954Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "referenceAllele": "A",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.2023A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Lys675Glu",
        "hgvsWellDefined": "XP_006720695.1:p.Lys675Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3113,
          "referenceAllele": "A",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.2671A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Lys891Glu",
        "hgvsWellDefined": "XP_011520183.1:p.Lys891Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3138,
          "referenceAllele": "A",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.2671A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Lys891Glu",
        "hgvsWellDefined": "XP_011520183.1:p.Lys891Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042043",
      "coordinates": [
        {
          "allele": "G",
          "end": 4084,
          "referenceAllele": "A",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys1329Glu",
        "hgvsWellDefined": "NP_000048.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3985A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3985A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys1329Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys1329Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738876",
      "coordinates": [
        {
          "allele": "G",
          "end": 4194,
          "referenceAllele": "A",
          "start": 4193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys1329Glu",
        "hgvsWellDefined": "NP_001274175.1:p.Lys1329Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740143",
      "coordinates": [
        {
          "allele": "G",
          "end": 3691,
          "referenceAllele": "A",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3592A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys1198Glu",
        "hgvsWellDefined": "NP_001274176.1:p.Lys1198Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016648",
      "coordinates": [
        {
          "allele": "G",
          "end": 4250,
          "referenceAllele": "A",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2860A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Lys954Glu",
        "hgvsWellDefined": "NP_001274177.1:p.Lys954Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}