{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393851338",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1461238[alleleid]",
        "alleleId": 1461238,
        "preferredName": "NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1413196",
        "RCV": [
          "RCV001943383"
        ],
        "variationId": 1413196
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91354587C>T?assembly=hg19",
        "id": "chr15:g.91354587C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90811357C>T?assembly=hg38",
        "id": "chr15:g.90811357C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151199939",
        "rs": 2151199939
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90811357,
          "referenceAllele": "C",
          "start": 90811356
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90811357C>T",
        "CM000677.2:g.90811357C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 91354587,
          "referenceAllele": "C",
          "start": 91354586
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91354587C>T",
        "CM000677.1:g.91354587C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89155591,
          "referenceAllele": "C",
          "start": 89155590
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89155591C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98986,
          "referenceAllele": "C",
          "start": 98985
        }
      ],
      "hgvs": [
        "NG_007272.1:g.98986C>T",
        "LRG_20:g.98986C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Gln1343Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.4027C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.4027C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gln1343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gln1343Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2600,
          "referenceAllele": "C",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.2600C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4109,
          "referenceAllele": "C",
          "start": 4108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Gln1343Ter",
        "hgvsWellDefined": "ENSP00000497646.1:p.Gln1343_Lys1386delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4103,
          "referenceAllele": "C",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Gln1343Ter",
        "hgvsWellDefined": "ENSP00000506117.1:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4109,
          "referenceAllele": "C",
          "start": 4108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Gln1343Ter",
        "hgvsWellDefined": "ENSP00000506682.1:p.Gln1343_Ser1372delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4145,
          "referenceAllele": "C",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Gln1343Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.1374C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4234,
          "referenceAllele": "C",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2951C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2951C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3685,
          "referenceAllele": "C",
          "start": 3684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Gln1212Ter",
        "hgvsWellDefined": "ENSP00000454158.1:p.Gln1212_Ser1286delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560821.1:n.447C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042067",
      "coordinates": [
        {
          "allele": "T",
          "end": 4145,
          "referenceAllele": "C",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gln1343Ter",
        "hgvsWellDefined": "NP_000048.1:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738905",
      "coordinates": [
        {
          "allele": "T",
          "end": 4255,
          "referenceAllele": "C",
          "start": 4254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gln1343Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740169",
      "coordinates": [
        {
          "allele": "T",
          "end": 3752,
          "referenceAllele": "C",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gln1212Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Gln1212_Ser1286delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573192115",
      "coordinates": [
        {
          "allele": "T",
          "end": 4311,
          "referenceAllele": "C",
          "start": 4310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Gln968Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Gln968_Ser1042delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2204,
          "referenceAllele": "C",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.2065C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Gln689Ter",
        "hgvsWellDefined": "XP_006720695.1:p.Gln689_Ser763delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3155,
          "referenceAllele": "C",
          "start": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.2713C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Gln905Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Gln905_Ser979delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.2713C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Gln905Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Gln905_Ser979delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042067",
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gln1343Ter",
        "hgvsWellDefined": "NP_000048.1:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.4027C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.4027C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gln1343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gln1343Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738905",
      "coordinates": [
        {
          "allele": "T",
          "end": 4236,
          "referenceAllele": "C",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.4027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gln1343Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Gln1343_Ser1417delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740169",
      "coordinates": [
        {
          "allele": "T",
          "end": 3733,
          "referenceAllele": "C",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gln1212Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Gln1212_Ser1286delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573192115",
      "coordinates": [
        {
          "allele": "T",
          "end": 4292,
          "referenceAllele": "C",
          "start": 4291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Gln968Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Gln968_Ser1042delinsArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}