{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393846169", "communityStandardTitle": [ "NM_000057.4(BLM):c.2809C>T (p.Gln937Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=681831[alleleid]", "alleleId": 681831, "preferredName": "NM_000057.4(BLM):c.2809C>T (p.Gln937Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694003", "RCV": [ "RCV001007657" ], "variationId": 694003 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.91328297C>T?assembly=hg19", "id": "chr15:g.91328297C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.90785067C>T?assembly=hg38", "id": "chr15:g.90785067C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1596252279", "rs": 1596252279 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 90785067, "referenceAllele": "C", "start": 90785066 } ], "hgvs": [ "NC_000015.10:g.90785067C>T", "CM000677.2:g.90785067C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 91328297, "referenceAllele": "C", "start": 91328296 } ], "hgvs": [ "NC_000015.9:g.91328297C>T", "CM000677.1:g.91328297C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89129301, "referenceAllele": "C", "start": 89129300 } ], "hgvs": [ "NC_000015.8:g.89129301C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 72696, "referenceAllele": "C", "start": 72695 } ], "hgvs": [ "NG_007272.1:g.72696C>T", "LRG_20:g.72696C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000520" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.8:c.2809C>T" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Gln937Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748636", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.2809C>T" }, "RefSeq": { "hgvs": "NM_000057.4:c.2809C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Gln937Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Gln937Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2891, "referenceAllele": "C", "start": 2890 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000648453.1:c.2809C>T" ], "proteinEffect": { "hgvs": "ENSP00000497646.1:p.Gln937Ter", "hgvsWellDefined": "ENSP00000497646.1:p.Gln937_Lys1386delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769991" }, { "coordinates": [ { "allele": "T", "end": 2885, "referenceAllele": "C", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000680772.1:c.2809C>T" ], "proteinEffect": { "hgvs": "ENSP00000506117.1:p.Gln937Ter", "hgvsWellDefined": "ENSP00000506117.1:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780387" }, { "coordinates": [ { "allele": "T", "end": 2891, "referenceAllele": "C", "start": 2890 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000681142.1:c.2809C>T" ], "proteinEffect": { "hgvs": "ENSP00000506682.1:p.Gln937Ter", "hgvsWellDefined": "ENSP00000506682.1:p.Gln937_Ser1372delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780754" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.7:c.2809C>T" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Gln937Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263336" }, { "coordinates": [ { "allele": "T", "end": 3016, "referenceAllele": "C", "start": 3015 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000559724.5:c.*1733C>T" ], "proteinEffect": { "hgvs": "ENSP00000453359.1:n.*1733C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS374810" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560136.5:n.835C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS375127" }, { "coordinates": [ { "allele": "T", "end": 2860, "referenceAllele": "C", "start": 2859 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560509.5:c.2809C>T" ], "proteinEffect": { "hgvs": "ENSP00000454158.1:p.Gln937Ter", "hgvsWellDefined": "ENSP00000454158.1:p.Gln937_Ser1286delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375398" }, { "@id": "http://reg.genome.network/allele/PA2825041338", "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.3:c.2809C>T" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Gln937Ter", "hgvsWellDefined": "NP_000048.1:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006122" }, { "@id": "http://reg.genome.network/allele/PA2826738040", "coordinates": [ { "allele": "T", "end": 3037, "referenceAllele": "C", "start": 3036 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.1:c.2809C>T" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Gln937Ter", "hgvsWellDefined": "NP_001274175.1:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023283" }, { "@id": "http://reg.genome.network/allele/PA916016280", "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.1:c.2809C>T" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Gln937Ter", "hgvsWellDefined": "NP_001274176.1:p.Gln937_Ser1286delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023284" }, { "@id": "http://reg.genome.network/allele/PA2826741431", "coordinates": [ { "allele": "T", "end": 3093, "referenceAllele": "C", "start": 3092 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.1:c.1684C>T" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Gln562Ter", "hgvsWellDefined": "NP_001274177.1:p.Gln562_Ser1042delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023285" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_006720632.2:c.847C>T" ], "proteinEffect": { "hgvs": "XP_006720695.1:p.Gln283Ter", "hgvsWellDefined": "XP_006720695.1:p.Gln283_Ser763delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073741" }, { "coordinates": [ { "allele": "T", "end": 1937, "referenceAllele": "C", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.1:c.1495C>T" ], "proteinEffect": { "hgvs": "XP_011520183.1:p.Gln499Ter", "hgvsWellDefined": "XP_011520183.1:p.Gln499_Ser979delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089040" }, { "coordinates": [ { "allele": "T", "end": 1962, "referenceAllele": "C", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.2:c.1495C>T" ], "proteinEffect": { "hgvs": "XP_011520183.1:p.Gln499Ter", "hgvsWellDefined": "XP_011520183.1:p.Gln499_Ser979delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546362" }, { "@id": "http://reg.genome.network/allele/PA2825041338", "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.4:c.2809C>T" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Gln937Ter", "hgvsWellDefined": "NP_000048.1:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662304", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.2809C>T" }, "RefSeq": { "hgvs": "NM_000057.4:c.2809C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Gln937Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Gln937Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826738040", "coordinates": [ { "allele": "T", "end": 3018, "referenceAllele": "C", "start": 3017 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.2:c.2809C>T" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Gln937Ter", "hgvsWellDefined": "NP_001274175.1:p.Gln937_Ser1417delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682382" }, { "@id": "http://reg.genome.network/allele/PA916016280", "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.2:c.2809C>T" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Gln937Ter", "hgvsWellDefined": "NP_001274176.1:p.Gln937_Ser1286delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682383" }, { "@id": "http://reg.genome.network/allele/PA2826741431", "coordinates": [ { "allele": "T", "end": 3074, "referenceAllele": "C", "start": 3073 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.2:c.1684C>T" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Gln562Ter", "hgvsWellDefined": "NP_001274177.1:p.Gln562_Ser1042delinsAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682384" } ], "type": "nucleotide" }