{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413937216", "communityStandardTitle": [ "NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939387[alleleid]", "alleleId": 939387, "preferredName": "NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/941998", "RCV": [ "RCV001211890" ], "variationId": 941998 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100625041G>C?assembly=hg19", "id": "chrX:g.100625041G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101370053G>C?assembly=hg38", "id": "chrX:g.101370053G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1409835623", "rs": 1409835623 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 101370053, 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"transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000478995.2:n.496C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905263" }, { "coordinates": [ { "allele": "G", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000488970.2:n.494C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905358" }, { "coordinates": [ { "allele": "G", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695614.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512053.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512053.1:p.Tyr112_Ser659delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907119" }, { "coordinates": [ { "allele": "G", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695615.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512054.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512054.1:p.Tyr112_Ser659delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907120" }, { "coordinates": [ { "allele": "G", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695616.1:c.*181C>G" ], "proteinEffect": { "hgvs": "ENSP00000512055.1:n.*181C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907121" }, { "coordinates": [ { "allele": "G", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695617.1:c.333C>G" ], "proteinEffect": { "hgvs": "ENSP00000512056.1:p.Tyr111Ter", "hgvsWellDefined": "ENSP00000512056.1:p.Tyr111_Ser658delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.*85C>G" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:n.*85C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "G", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.*181C>G" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:n.*181C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "G", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.*181C>G" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:n.*181C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "G", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512061.1:p.Tyr112_Arg544delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "G", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512062.1:p.Tyr112_Ser638delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "G", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512063.1:p.Tyr112_Ser657delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907128" }, { "coordinates": [ { "allele": "G", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695625.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512064.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512064.1:p.Tyr112_Ser648delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907130" }, { "coordinates": [ { "allele": "G", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000703407.1:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000512057.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000512057.1:p.Tyr112_Ser483delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "G", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000308176.8:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000308176.8:p.Tyr112_Ser659delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.336C>G" }, "RefSeq": { "hgvs": "NM_000061.3:c.336C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Tyr112Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Tyr112Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000308176.7:p.Tyr112_Ser659delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000361971.1:p.Tyr112_Ser483delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "G", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.336C>G" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Tyr112Ter", "hgvsWellDefined": "ENSP00000479125.1:p.Tyr112_Ser568delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "G", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.438C>G" ], "proteinEffect": { "hgvs": "ENSP00000483570.1:p.Tyr146Ter", "hgvsWellDefined": "ENSP00000483570.1:p.Tyr146_Ser693delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405360" }, { "@id": "http://reg.genome.network/allele/PA2825028659", "coordinates": [ { "allele": "G", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.336C>G", "LRG_128t1:c.336C>G" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Tyr112Ter", "hgvsWellDefined": "NP_000052.1:p.Tyr112_Ser659delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006125" }, { "@id": "http://reg.genome.network/allele/PA1139692009", "coordinates": [ { "allele": "G", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.438C>G" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Tyr146Ter", "hgvsWellDefined": "NP_001274273.1:p.Tyr146_Ser693delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023307" }, { "@id": "http://reg.genome.network/allele/PA2826742679", "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.336C>G" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Tyr112Ter", "hgvsWellDefined": "NP_001274274.1:p.Tyr112_Ser483delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023308" }, { "@id": "http://reg.genome.network/allele/PA2825028659", "coordinates": [ { "allele": "G", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.336C>G" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Tyr112Ter", "hgvsWellDefined": "NP_000052.1:p.Tyr112_Ser659delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.336C>G" }, "RefSeq": { "hgvs": "NM_000061.3:c.336C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Tyr112Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Tyr112Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139692009", "coordinates": [ { "allele": "G", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.438C>G" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Tyr146Ter", "hgvsWellDefined": "NP_001274273.1:p.Tyr146_Ser693delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2826742679", "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.336C>G" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Tyr112Ter", "hgvsWellDefined": "NP_001274274.1:p.Tyr112_Ser483delinsValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }