{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA255806", "communityStandardTitle": [ "NM_000061.3(BTK):c.755G>A (p.Trp252Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26401[alleleid]", "alleleId": 26401, "preferredName": "NM_000061.3(BTK):c.755G>A (p.Trp252Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11362", "RCV": [ "RCV000012115", "RCV003511978" ], "variationId": 11362 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100615577C>T?assembly=hg19", "id": "chrX:g.100615577C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101360589C>T?assembly=hg38", "id": "chrX:g.101360589C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/128621192", "rs": 128621192 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 101360589, "referenceAllele": "C", "start": 101360588 } ], "hgvs": [ "NC_000023.11:g.101360589C>T", "CM000685.2:g.101360589C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100615577, "referenceAllele": "C", "start": 100615576 } ], "hgvs": [ "NC_000023.10:g.100615577C>T", "CM000685.1:g.100615577C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100502233, "referenceAllele": "C", "start": 100502232 } ], "hgvs": [ "NC_000023.9:g.100502233C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 30636, "referenceAllele": "G", "start": 30635 } ], "hgvs": [ "NG_009616.1:g.30636G>A", "LRG_128:g.30636G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001613" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000464006.2:n.535G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905110" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000478995.2:n.915G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905263" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000488970.2:n.913G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905358" }, { "coordinates": [ { "allele": "A", "end": 886, "referenceAllele": "G", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695614.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512053.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512053.1:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907119" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "G", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695615.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512054.1:p.Trp252Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907120" }, { "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695616.1:c.*600G>A" ], "proteinEffect": { "hgvs": "ENSP00000512055.1:n.*600G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907121" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695617.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000512056.1:p.Trp251Ter", "hgvsWellDefined": "ENSP00000512056.1:p.Trp251_Ser658delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "G", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.*504G>A" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:n.*504G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.*600G>A" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:n.*600G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.*600G>A" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:n.*600G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512061.1:p.Trp252_Arg544delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512062.1:p.Trp252_Ser638delinsArgAlaArgAspLysAsnGlyTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512063.1:p.Trp252_Ser657delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907128" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695625.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512064.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512064.1:p.Trp252_Ser648delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907130" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000703407.1:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000512057.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000512057.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.755G>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.755G>A" }, "RefSeq": { "hgvs": "NM_000061.3:c.755G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Trp252Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Trp252Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Trp252Ter", "hgvsWellDefined": "ENSP00000308176.7:p.Trp252_Ser659delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000361971.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "A", "end": 755, "referenceAllele": "G", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Trp252Ter", "hgvsWellDefined": "ENSP00000479125.1:p.Trp252_Ser568delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "A", "end": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.857G>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": 948, "referenceAllele": "G", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.755G>A", "LRG_128t1:c.755G>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": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.857G>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": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.755G>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": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.755G>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.755G>A" }, "RefSeq": { "hgvs": "NM_000061.3:c.755G>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": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.857G>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": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Trp252Ter", "hgvsWellDefined": "NP_001274274.1:p.Trp252_Ser483delinsArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }