{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393841641",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.814A>T (p.Lys272Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2894950[alleleid]",
        "alleleId": 2894950,
        "preferredName": "NM_000057.4(BLM):c.814A>T (p.Lys272Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2736257",
        "RCV": [
          "RCV003506577"
        ],
        "variationId": 2736257
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91295031A>T?assembly=hg19",
        "id": "chr15:g.91295031A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90751801A>T?assembly=hg38",
        "id": "chr15:g.90751801A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1895691198",
        "rs": 1895691198
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90751801,
          "referenceAllele": "A",
          "start": 90751800
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90751801A>T",
        "CM000677.2:g.90751801A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 91295031,
          "referenceAllele": "A",
          "start": 91295030
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91295031A>T",
        "CM000677.1:g.91295031A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89096035,
          "referenceAllele": "A",
          "start": 89096034
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89096035A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39430,
          "referenceAllele": "A",
          "start": 39429
        }
      ],
      "hgvs": [
        "NG_007272.1:g.39430A>T",
        "LRG_20:g.39430A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.814A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.814A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys272Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys272Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "referenceAllele": "A",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.75A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "A",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Lys272Ter",
        "hgvsWellDefined": "ENSP00000453359.1:p.Lys273_Thr413delinsAsnLeuGluGluAlaGluLeuHisSerThrGluLysValProCysIleGluPheAspAspAspAspTyrAspThrAspPheValProProSerProGluGluIleIleSerAlaSerSerSerSerSerLysCysLeuSerThrLeuLysAspLeuAspThrSerAspArgLysGluAspValLeuSerThrSerLysAspLeuLeuSerLysProGluLysMetSerMetGlnGluLeuAsnProGluThrSerThrAspCysAspGlySerHisCysValAlaGlnAlaGlyLeuGluLeuLeuAspLeuSerAsnProProAlaLeuAlaSerProLysGlyTrpAspTyrSerHisGluProProCysLeuAlaLysThrPhePhePhePheProGlnArgLysIleLeuThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "A",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-478A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-478A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "referenceAllele": "A",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-368A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-368A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Lys272Ter",
        "hgvsWellDefined": "XP_011520184.1:p.Lys273_Gln907delinsAsnLeuGluGluAlaGluLeuHisSerThrGluLysValProCysIleGluPheAspAspAspAspTyrAspThrAspPheValProProSerProGluGluIleIleSerAlaSerSerSerSerSerLysCysLeuSerThrLeuLysAspLeuAspThrSerAspArgLysGluAspValLeuSerThrSerLysAspLeuLeuSerLysProGluLysMetSerMetGlnGluLeuAsnProGluThrSerThrAspCysAspAlaArgGlnIleSerLeuGlnGlnGlnLeuIleHisValMetGluHisIleCysLysLeuIleAspThrIleProAspAspLysLeuLysLeuLeuAspCysGlyAsnGluLeuLeuGlnGlnArgAsnIleArgArgLysLeuLeuThrGluValAspPheAsnLysSerAspAlaSerLeuLeuGlySerLeuTrpArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "A",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-368A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-368A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Lys272Ter",
        "hgvsWellDefined": "XP_011520184.1:p.Lys273_Gln907delinsAsnLeuGluGluAlaGluLeuHisSerThrGluLysValProCysIleGluPheAspAspAspAspTyrAspThrAspPheValProProSerProGluGluIleIleSerAlaSerSerSerSerSerLysCysLeuSerThrLeuLysAspLeuAspThrSerAspArgLysGluAspValLeuSerThrSerLysAspLeuLeuSerLysProGluLysMetSerMetGlnGluLeuAsnProGluThrSerThrAspCysAspAlaArgGlnIleSerLeuGlnGlnGlnLeuIleHisValMetGluHisIleCysLysLeuIleAspThrIleProAspAspLysLeuLysLeuLeuAspCysGlyAsnGluLeuLeuGlnGlnArgAsnIleArgArgLysLeuLeuThrGluValAspPheAsnLysSerAspAlaSerLeuLeuGlySerLeuTrpArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.814A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.814A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys272Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys272Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.814A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-478A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-478A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}