{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041775",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.2720_2726del (p.Thr907ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358355[alleleid]",
        "alleleId": 358355,
        "preferredName": "NM_000057.4(BLM):c.2720_2726del (p.Thr907fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370390",
        "RCV": [
          "RCV000409206"
        ],
        "variationId": 370390
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91328208_91328214del?assembly=hg19",
        "id": "chr15:g.91328208_91328214del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90784978_90784984del?assembly=hg38",
        "id": "chr15:g.90784978_90784984del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516452",
        "rs": 1057516452
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 90784984,
          "referenceAllele": "CGTTACA",
          "start": 90784977
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90784978_90784984del",
        "CM000677.2:g.90784978_90784984del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 91328214,
          "referenceAllele": "CGTTACA",
          "start": 91328207
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91328208_91328214del",
        "CM000677.1:g.91328208_91328214del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 89129218,
          "referenceAllele": "CGTTACA",
          "start": 89129211
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89129212_89129218del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 72613,
          "referenceAllele": "CGTTACA",
          "start": 72606
        }
      ],
      "hgvs": [
        "NG_007272.1:g.72607_72613del",
        "LRG_20:g.72607_72613del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2825,
          "referenceAllele": "CGTTACA",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "ENSP00000347232.3:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.2720_2726del"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.2720_2726del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Thr907ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Thr907ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2808,
          "referenceAllele": "CGTTACA",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "ENSP00000497646.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2802,
          "referenceAllele": "CGTTACA",
          "start": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "ENSP00000506117.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2808,
          "referenceAllele": "CGTTACA",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "ENSP00000506682.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2844,
          "referenceAllele": "CGTTACA",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "ENSP00000347232.3:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2933,
          "referenceAllele": "CGTTACA",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*1644_*1650del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*1644_*1650del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 752,
          "referenceAllele": "CGTTACA",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.746_752del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2777,
          "referenceAllele": "CGTTACA",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "ENSP00000454158.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2844,
          "referenceAllele": "CGTTACA",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "NP_000048.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2954,
          "referenceAllele": "CGTTACA",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "NP_001274175.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2844,
          "referenceAllele": "CGTTACA",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "NP_001274176.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3010,
          "referenceAllele": "CGTTACA",
          "start": 3003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.1595_1601del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Thr532ArgfsTer?",
        "hgvsWellDefined": "NP_001274177.1:p.[Thr532_Gly537delinsArgGluMetGlySerLeu;Ala539_Ala540delinsLeu;Ala542_His544delinsThrMetLeu;Gly546_Trp559delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn561_Asp563delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 903,
          "referenceAllele": "CGTTACA",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.758_764del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Thr253ArgfsTer?",
        "hgvsWellDefined": "XP_006720695.1:p.[Thr253_Gly258delinsArgGluMetGlySerLeu;Ala260_Ala261delinsLeu;Ala263_His265delinsThrMetLeu;Gly267_Trp280delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn282_Asp284delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1854,
          "referenceAllele": "CGTTACA",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.1406_1412del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Thr469ArgfsTer?",
        "hgvsWellDefined": "XP_011520183.1:p.[Thr469_Gly474delinsArgGluMetGlySerLeu;Ala476_Ala477delinsLeu;Ala479_His481delinsThrMetLeu;Gly483_Trp496delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn498_Asp500delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1879,
          "referenceAllele": "CGTTACA",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.1406_1412del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Thr469ArgfsTer?",
        "hgvsWellDefined": "XP_011520183.1:p.[Thr469_Gly474delinsArgGluMetGlySerLeu;Ala476_Ala477delinsLeu;Ala479_His481delinsThrMetLeu;Gly483_Trp496delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn498_Asp500delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2825,
          "referenceAllele": "CGTTACA",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "NP_000048.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.2720_2726del"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.2720_2726del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Thr907ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Thr907ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2935,
          "referenceAllele": "CGTTACA",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "NP_001274175.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2825,
          "referenceAllele": "CGTTACA",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.2720_2726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Thr907ArgfsTer?",
        "hgvsWellDefined": "NP_001274176.1:p.[Thr907_Gly912delinsArgGluMetGlySerLeu;Ala914_Ala915delinsLeu;Ala917_His919delinsThrMetLeu;Gly921_Trp934delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn936_Asp938delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2991,
          "referenceAllele": "CGTTACA",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.1595_1601del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Thr532ArgfsTer?",
        "hgvsWellDefined": "NP_001274177.1:p.[Thr532_Gly537delinsArgGluMetGlySerLeu;Ala539_Ala540delinsLeu;Ala542_His544delinsThrMetLeu;Gly546_Trp559delinsSerValIleLeuProGluMetLysCysSerArgSerGlyLeu;Asn561_Asp563delinsArgMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}