{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041769", "communityStandardTitle": [ "NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358348[alleleid]", "alleleId": 358348, "preferredName": "NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371048", "RCV": [ "RCV000410691" ], "variationId": 371048 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.91303887G>A?assembly=hg19", "id": "chr15:g.91303887G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.90760657G>A?assembly=hg38", "id": "chr15:g.90760657G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516964", "rs": 1057516964 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-90760657-G-A?dataset=gnomad_r3", "id": "15-90760657-G-A", "variant": "15:90760657 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-90760657-G-A?dataset=gnomad_r4", "id": "15-90760657-G-A", "variant": "15:90760657 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 90760657, "referenceAllele": "G", "start": 90760656 } ], "hgvs": [ "NC_000015.10:g.90760657G>A", "CM000677.2:g.90760657G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 91303887, "referenceAllele": "G", "start": 91303886 } ], "hgvs": [ "NC_000015.9:g.91303887G>A", "CM000677.1:g.91303887G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 89104891, "referenceAllele": "G", "start": 89104890 } ], "hgvs": [ "NC_000015.8:g.89104891G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 48286, "referenceAllele": "G", "start": 48285 } ], "hgvs": [ "NG_007272.1:g.48286G>A", "LRG_20:g.48286G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000520" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.8:c.1284G>A" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Trp428Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748636", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.1284G>A" }, "RefSeq": { "hgvs": "NM_000057.4:c.1284G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Trp428Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Trp428Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000648453.1:c.1284G>A" ], "proteinEffect": { "hgvs": "ENSP00000497646.1:p.Trp428Ter", "hgvsWellDefined": "ENSP00000497646.1:p.Trp428_Lys1386delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769991" }, { "coordinates": [ { "allele": "A", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000680772.1:c.1284G>A" ], "proteinEffect": { "hgvs": "ENSP00000506117.1:p.Trp428Ter", "hgvsWellDefined": "ENSP00000506117.1:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780387" }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000681142.1:c.1284G>A" ], "proteinEffect": { "hgvs": "ENSP00000506682.1:p.Trp428Ter", "hgvsWellDefined": "ENSP00000506682.1:p.Trp428_Ser1372delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780754" }, { "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.7:c.1284G>A" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Trp428Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263336" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000558599.1:n.412G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373927" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000559724.5:c.*208G>A" ], "proteinEffect": { "hgvs": "ENSP00000453359.1:n.*208G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS374810" }, { "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560509.5:c.1284G>A" ], "proteinEffect": { "hgvs": "ENSP00000454158.1:p.Trp428Ter", "hgvsWellDefined": "ENSP00000454158.1:p.Trp428_Ser1286delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375398" }, { "@id": "http://reg.genome.network/allele/PA645487895", "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.3:c.1284G>A" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Trp428Ter", "hgvsWellDefined": "NP_000048.1:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006122" }, { "@id": "http://reg.genome.network/allele/PA2826736965", "coordinates": [ { "allele": "A", "end": 1512, "referenceAllele": "G", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.1:c.1284G>A" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Trp428Ter", "hgvsWellDefined": "NP_001274175.1:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023283" }, { "@id": "http://reg.genome.network/allele/PA2826739300", "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.1:c.1284G>A" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Trp428Ter", "hgvsWellDefined": "NP_001274176.1:p.Trp428_Ser1286delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023284" }, { "@id": "http://reg.genome.network/allele/PA916016334", "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Trp53Ter", "hgvsWellDefined": "NP_001274177.1:p.Trp53_Ser1042delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023285" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.1:c.-31G>A" ], "proteinEffect": { "hgvs": "XP_011520183.1:n.-31G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS089040" }, { "coordinates": [ { "allele": "A", "end": 1390, "referenceAllele": "G", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521882.1:c.1284G>A" ], "proteinEffect": { "hgvs": "XP_011520184.1:p.Trp428Ter", "hgvsWellDefined": "XP_011520184.1:p.Trp428_Gln907delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089041" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.2:c.-31G>A" ], "proteinEffect": { "hgvs": "XP_011520183.1:n.-31G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS546362" }, { "coordinates": [ { "allele": "A", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521882.3:c.1284G>A" ], "proteinEffect": { "hgvs": "XP_011520184.1:p.Trp428Ter", "hgvsWellDefined": "XP_011520184.1:p.Trp428_Gln907delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546363" }, { "@id": "http://reg.genome.network/allele/PA645487895", "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.4:c.1284G>A" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Trp428Ter", "hgvsWellDefined": "NP_000048.1:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662304", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.1284G>A" }, "RefSeq": { "hgvs": "NM_000057.4:c.1284G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Trp428Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Trp428Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826736965", "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.2:c.1284G>A" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Trp428Ter", "hgvsWellDefined": "NP_001274175.1:p.Trp428_Ser1417delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682382" }, { "@id": "http://reg.genome.network/allele/PA2826739300", "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.2:c.1284G>A" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Trp428Ter", "hgvsWellDefined": "NP_001274176.1:p.Trp428_Ser1286delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682383" }, { "@id": "http://reg.genome.network/allele/PA916016334", "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "G", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Trp53Ter", "hgvsWellDefined": "NP_001274177.1:p.Trp53_Ser1042delinsArgTyrArgProAspSerLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682384" } ], "type": "nucleotide" }