{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413931608", "communityStandardTitle": [ "NM_000061.3(BTK):c.756G>A (p.Trp252Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649606[alleleid]", "alleleId": 649606, "preferredName": "NM_000061.3(BTK):c.756G>A (p.Trp252Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/645498", "RCV": [ "RCV000799583" ], "variationId": 645498 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100615576C>T?assembly=hg19", "id": "chrX:g.100615576C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101360588C>T?assembly=hg38", "id": "chrX:g.101360588C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1603008349", "rs": 1603008349 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 101360588, "referenceAllele": "C", "start": 101360587 } ], "hgvs": [ "NC_000023.11:g.101360588C>T", "CM000685.2:g.101360588C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100615576, "referenceAllele": "C", "start": 100615575 } ], "hgvs": [ "NC_000023.10:g.100615576C>T", "CM000685.1:g.100615576C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100502232, "referenceAllele": "C", "start": 100502231 } ], "hgvs": [ "NC_000023.9:g.100502232C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 30637, "referenceAllele": "G", "start": 30636 } ], "hgvs": [ "NG_009616.1:g.30637G>A", "LRG_128:g.30637G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001613" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000464006.2:n.536G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905110" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000478995.2:n.916G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905263" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000488970.2:n.914G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905358" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695614.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512053.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512053.1:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907119" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695615.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512054.1:p.Trp252Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907120" }, { "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695616.1:c.*601G>A" ], "proteinEffect": { "hgvs": "ENSP00000512055.1:n.*601G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907121" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695617.1:c.753G>A" ], "proteinEffect": { "hgvs": "ENSP00000512056.1:p.Trp251Ter", "hgvsWellDefined": "ENSP00000512056.1:p.Trp251_Ser658delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "G", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.*505G>A" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:n.*505G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.*601G>A" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:n.*601G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "A", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.*601G>A" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:n.*601G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512061.1:p.Trp252_Arg544delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512062.1:p.Trp252_Ser638delinsArgAlaArgAspLysAsnGlyTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512063.1:p.Trp252_Ser657delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907128" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695625.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512064.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512064.1:p.Trp252_Ser648delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907130" }, { "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000703407.1:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000512057.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512057.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000308176.8:p.Trp252Ter", "hgvsWellDefined": "ENSP00000308176.8:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.756G>A" }, "RefSeq": { "hgvs": "NM_000061.3:c.756G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Trp252Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Trp252Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Trp252Ter", "hgvsWellDefined": "ENSP00000308176.7:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000361971.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "G", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.756G>A" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000479125.1:p.Trp252_Ser568delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.858G>A" ], "proteinEffect": { "hgvs": "ENSP00000483570.1:p.Trp286Ter", "hgvsWellDefined": "ENSP00000483570.1:p.Trp286_Ser693delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405360" }, { "@id": "http://reg.genome.network/allele/PA255808", "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.756G>A", "LRG_128t1:c.756G>A" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Trp252Ter", "hgvsWellDefined": "NP_000052.1:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006125" }, { "@id": "http://reg.genome.network/allele/PA916016721", "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.858G>A" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Trp286Ter", "hgvsWellDefined": "NP_001274273.1:p.Trp286_Ser693delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023307" }, { "@id": "http://reg.genome.network/allele/PA2826742745", "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.756G>A" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Trp252Ter", "hgvsWellDefined": "NP_001274274.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023308" }, { "@id": "http://reg.genome.network/allele/PA255808", "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.756G>A" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Trp252Ter", "hgvsWellDefined": "NP_000052.1:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.756G>A" }, "RefSeq": { "hgvs": "NM_000061.3:c.756G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Trp252Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Trp252Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916016721", "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.858G>A" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Trp286Ter", "hgvsWellDefined": "NP_001274273.1:p.Trp286_Ser693delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2826742745", "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.756G>A" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Trp252Ter", "hgvsWellDefined": "NP_001274274.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }