{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041773",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1764_1777del (p.Lys588AsnfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358353[alleleid]",
        "alleleId": 358353,
        "preferredName": "NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371040",
        "RCV": [
          "RCV000410100"
        ],
        "variationId": 371040
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91304367_91304380del?assembly=hg19",
        "id": "chr15:g.91304367_91304380del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90761137_90761150del?assembly=hg38",
        "id": "chr15:g.90761137_90761150del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516956",
        "rs": 1057516956
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 90761150,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 90761136
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90761137_90761150del",
        "CM000677.2:g.90761137_90761150del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 91304380,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 91304366
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91304367_91304380del",
        "CM000677.1:g.91304367_91304380del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 89105384,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 89105370
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89105371_89105384del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 48779,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 48765
        }
      ],
      "hgvs": [
        "NG_007272.1:g.48766_48779del",
        "LRG_20:g.48766_48779del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1876,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "ENSP00000347232.3:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1764_1777del"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1764_1777del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys588AsnfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys588AsnfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1859,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "ENSP00000497646.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1853,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "ENSP00000506117.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1859,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "ENSP00000506682.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1895,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "ENSP00000347232.3:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1984,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*688_*701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*688_*701del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1828,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "ENSP00000454158.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1895,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "NP_000048.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2005,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "NP_001274175.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1895,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "NP_001274176.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2061,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.639_652del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Lys213AsnfsTer2",
        "hgvsWellDefined": "NP_001274177.1:p.[Lys213_Gln240del;Asn243_Ile248del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 905,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.450_463del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Lys150AsnfsTer2",
        "hgvsWellDefined": "XP_011520183.1:p.[Lys150_Gln177del;Asn180_Ile185del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1883,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "XP_011520184.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 930,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.450_463del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Lys150AsnfsTer2",
        "hgvsWellDefined": "XP_011520183.1:p.[Lys150_Gln177del;Asn180_Ile185del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1824,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "XP_011520184.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1876,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "NP_000048.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1764_1777del"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1764_1777del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys588AsnfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys588AsnfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1986,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "NP_001274175.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1876,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.1764_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys588AsnfsTer2",
        "hgvsWellDefined": "NP_001274176.1:p.[Lys588_Gln615del;Asn618_Ile623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2042,
          "referenceAllele": "GGAAGGTCGGCCAA",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.639_652del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Lys213AsnfsTer2",
        "hgvsWellDefined": "NP_001274177.1:p.[Lys213_Gln240del;Asn243_Ile248del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}