{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7738323",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.664G>A (p.Glu222Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812276[alleleid]",
        "alleleId": 812276,
        "preferredName": "NM_000057.4(BLM):c.664G>A (p.Glu222Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/826534",
        "RCV": [
          "RCV001025499",
          "RCV001418845"
        ],
        "variationId": 826534
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91293162-G-A",
        "id": "15-91293162-G-A",
        "variant": "15:91293162 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91293162G>A?assembly=hg19",
        "id": "chr15:g.91293162G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90749932G>A?assembly=hg38",
        "id": "chr15:g.90749932G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774075577",
        "rs": 774075577
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91293162-G-A?dataset=gnomad_r2_1",
        "id": "15-91293162-G-A",
        "variant": "15:91293162 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90749932-G-A?dataset=gnomad_r4",
        "id": "15-90749932-G-A",
        "variant": "15:90749932 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 90749932,
          "referenceAllele": "G",
          "start": 90749931
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90749932G>A",
        "CM000677.2:g.90749932G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 91293162,
          "referenceAllele": "G",
          "start": 91293161
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91293162G>A",
        "CM000677.1:g.91293162G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89094166,
          "referenceAllele": "G",
          "start": 89094165
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89094166G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37561,
          "referenceAllele": "G",
          "start": 37560
        }
      ],
      "hgvs": [
        "NG_007272.1:g.37561G>A",
        "LRG_20:g.37561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000347232.3:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Glu222Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Glu222Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000497646.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000506117.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000506682.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000347232.3:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559282.1:n.838G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000453359.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Glu222Lys",
        "hgvsWellDefined": "ENSP00000454158.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825040012",
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Glu222Lys",
        "hgvsWellDefined": "NP_000048.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736487",
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Glu222Lys",
        "hgvsWellDefined": "NP_001274175.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015751",
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Glu222Lys",
        "hgvsWellDefined": "NP_001274176.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-628G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-628G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Glu222Lys",
        "hgvsWellDefined": "XP_011520184.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Glu222Lys",
        "hgvsWellDefined": "XP_011520184.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825040012",
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Glu222Lys",
        "hgvsWellDefined": "NP_000048.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Glu222Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Glu222Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736487",
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Glu222Lys",
        "hgvsWellDefined": "NP_001274175.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015751",
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Glu222Lys",
        "hgvsWellDefined": "NP_001274176.1:p.Glu222Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-628G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-628G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}