{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393844976", "communityStandardTitle": [ "NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063460[alleleid]", "alleleId": 1063460, "preferredName": "NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072379", "RCV": [ "RCV001385069" ], "variationId": 1072379 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.91310238T>G?assembly=hg19", "id": "chr15:g.91310238T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.90767008T>G?assembly=hg38", "id": "chr15:g.90767008T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2151164019", "rs": 2151164019 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 90767008, "referenceAllele": "T", "start": 90767007 } ], "hgvs": [ "NC_000015.10:g.90767008T>G", "CM000677.2:g.90767008T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 91310238, "referenceAllele": "T", "start": 91310237 } ], "hgvs": [ "NC_000015.9:g.91310238T>G", "CM000677.1:g.91310238T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 89111242, "referenceAllele": "T", "start": 89111241 } ], "hgvs": [ "NC_000015.8:g.89111242T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 54637, "referenceAllele": "T", "start": 54636 } ], "hgvs": [ "NG_007272.1:g.54637T>G", "LRG_20:g.54637T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000520" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2391, "referenceAllele": "T", "start": 2390 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.8:c.2292T>G" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Tyr764Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748636", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.2292T>G" }, "RefSeq": { "hgvs": "NM_000057.4:c.2292T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Tyr764Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Tyr764Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2374, "referenceAllele": "T", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000648453.1:c.2292T>G" ], "proteinEffect": { "hgvs": "ENSP00000497646.1:p.Tyr764Ter", "hgvsWellDefined": "ENSP00000497646.1:p.Tyr764_Lys1386delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769991" }, { "coordinates": [ { "allele": "G", "end": 2368, "referenceAllele": "T", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000680772.1:c.2292T>G" ], "proteinEffect": { "hgvs": "ENSP00000506117.1:p.Tyr764Ter", "hgvsWellDefined": "ENSP00000506117.1:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780387" }, { "coordinates": [ { "allele": "G", "end": 2374, "referenceAllele": "T", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000681142.1:c.2292T>G" ], "proteinEffect": { "hgvs": "ENSP00000506682.1:p.Tyr764Ter", "hgvsWellDefined": "ENSP00000506682.1:p.Tyr764_Ser1372delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780754" }, { "coordinates": [ { "allele": "G", "end": 2410, "referenceAllele": "T", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.7:c.2292T>G" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Tyr764Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263336" }, { "coordinates": [ { "allele": "G", "end": 469, "referenceAllele": "T", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000559426.5:n.469T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS374573" }, { "coordinates": [ { "allele": "G", "end": 2499, "referenceAllele": "T", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000559724.5:c.*1216T>G" ], "proteinEffect": { "hgvs": "ENSP00000453359.1:n.*1216T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS374810" }, { "coordinates": [ { "allele": "G", "end": 318, "referenceAllele": "T", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560136.5:n.318T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS375127" }, { "coordinates": [ { "allele": "G", "end": 2343, "referenceAllele": "T", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560509.5:c.2292T>G" ], "proteinEffect": { "hgvs": "ENSP00000454158.1:p.Tyr764Ter", "hgvsWellDefined": "ENSP00000454158.1:p.Tyr764_Ser1286delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375398" }, { "@id": "http://reg.genome.network/allele/PA2825041015", "coordinates": [ { "allele": "G", "end": 2410, "referenceAllele": "T", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.3:c.2292T>G" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Tyr764Ter", "hgvsWellDefined": "NP_000048.1:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006122" }, { "@id": "http://reg.genome.network/allele/PA2826737658", "coordinates": [ { "allele": "G", "end": 2520, "referenceAllele": "T", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.1:c.2292T>G" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Tyr764Ter", "hgvsWellDefined": "NP_001274175.1:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023283" }, { "@id": "http://reg.genome.network/allele/PA2499245883", "coordinates": [ { "allele": "G", "end": 2410, "referenceAllele": "T", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.1:c.2292T>G" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Tyr764Ter", "hgvsWellDefined": "NP_001274176.1:p.Tyr764_Ser1286delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023284" }, { "@id": "http://reg.genome.network/allele/PA2826741048", "coordinates": [ { "allele": "G", "end": 2576, "referenceAllele": "T", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.1:c.1167T>G" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Tyr389Ter", "hgvsWellDefined": "NP_001274177.1:p.Tyr389_Ser1042delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023285" }, { "coordinates": [ { "allele": "G", "end": 469, "referenceAllele": "T", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_006720632.2:c.330T>G" ], "proteinEffect": { "hgvs": "XP_006720695.1:p.Tyr110Ter", "hgvsWellDefined": "XP_006720695.1:p.Tyr110_Ser763delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073741" }, { "coordinates": [ { "allele": "G", "end": 1420, "referenceAllele": "T", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.1:c.978T>G" ], "proteinEffect": { "hgvs": "XP_011520183.1:p.Tyr326Ter", "hgvsWellDefined": "XP_011520183.1:p.Tyr326_Ser979delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089040" }, { "coordinates": [ { "allele": "G", "end": 2398, "referenceAllele": "T", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521882.1:c.2292T>G" ], "proteinEffect": { "hgvs": "XP_011520184.1:p.Tyr764Ter", "hgvsWellDefined": "XP_011520184.1:p.Tyr764_Gln907delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089041" }, { "coordinates": [ { "allele": "G", "end": 1445, "referenceAllele": "T", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.2:c.978T>G" ], "proteinEffect": { "hgvs": "XP_011520183.1:p.Tyr326Ter", "hgvsWellDefined": "XP_011520183.1:p.Tyr326_Ser979delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546362" }, { "coordinates": [ { "allele": "G", "end": 2339, "referenceAllele": "T", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521882.3:c.2292T>G" ], "proteinEffect": { "hgvs": "XP_011520184.1:p.Tyr764Ter", "hgvsWellDefined": "XP_011520184.1:p.Tyr764_Gln907delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546363" }, { "@id": "http://reg.genome.network/allele/PA2825041015", "coordinates": [ { "allele": "G", "end": 2391, "referenceAllele": "T", "start": 2390 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.4:c.2292T>G" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Tyr764Ter", "hgvsWellDefined": "NP_000048.1:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662304", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.2292T>G" }, "RefSeq": { "hgvs": "NM_000057.4:c.2292T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Tyr764Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Tyr764Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826737658", "coordinates": [ { "allele": "G", "end": 2501, "referenceAllele": "T", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.2:c.2292T>G" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Tyr764Ter", "hgvsWellDefined": "NP_001274175.1:p.Tyr764_Ser1417delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682382" }, { "@id": "http://reg.genome.network/allele/PA2499245883", "coordinates": [ { "allele": "G", "end": 2391, "referenceAllele": "T", "start": 2390 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.2:c.2292T>G" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Tyr764Ter", "hgvsWellDefined": "NP_001274176.1:p.Tyr764_Ser1286delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682383" }, { "@id": "http://reg.genome.network/allele/PA2826741048", "coordinates": [ { "allele": "G", "end": 2557, "referenceAllele": "T", "start": 2556 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.2:c.1167T>G" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Tyr389Ter", "hgvsWellDefined": "NP_001274177.1:p.Tyr389_Ser1042delinsValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682384" } ], "type": "nucleotide" }