{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413939630", "communityStandardTitle": [ "NM_000061.3(BTK):c.62C>A (p.Ser21Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065103[alleleid]", "alleleId": 1065103, "preferredName": "NM_000061.3(BTK):c.62C>A (p.Ser21Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069599", "RCV": [ "RCV001381525" ], "variationId": 1069599 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100630211G>T?assembly=hg19", "id": "chrX:g.100630211G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101375223G>T?assembly=hg38", "id": "chrX:g.101375223G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147448284", "rs": 2147448284 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 101375223, "referenceAllele": "G", "start": 101375222 } ], "hgvs": [ "NC_000023.11:g.101375223G>T", "CM000685.2:g.101375223G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100630211, "referenceAllele": "G", "start": 100630210 } ], "hgvs": [ "NC_000023.10:g.100630211G>T", "CM000685.1:g.100630211G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100516867, "referenceAllele": "G", "start": 100516866 } ], "hgvs": [ "NC_000023.9:g.100516867G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 16002, "referenceAllele": "C", "start": 16001 } ], "hgvs": [ "NG_009616.1:g.16002C>A", "LRG_128:g.16002C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001613" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000478995.2:n.222C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905263" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000488970.2:n.222C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905358" }, { "coordinates": [ { "allele": "A", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695614.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512053.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512053.1:p.Ser21_Ser659delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907119" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695615.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512054.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512054.1:p.Ser21_Ser659delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907120" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695616.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512055.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512055.1:p.Ser21_Gln49delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907121" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695617.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512056.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512056.1:p.Ser21_Ser658delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyValSerSerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512058.1:p.Ser21_Arg118delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProValArgArgAspGlnCysLeuArgTrpGlyThrAlaAspLeuLysLysPheAlaThrPheLysPheSerValAsnArgLeuValMetLeuCysAsnValGluHisGluLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "A", "end": 215, "referenceAllele": "C", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512059.1:p.Ser21_Gln50delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyLysArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512060.1:p.Ser21_Gln49delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512061.1:p.Ser21_Arg544delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512062.1:p.Ser21_Ser638delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512063.1:p.Ser21_Ser657delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907128" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695625.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512064.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512064.1:p.Ser21_Ser648delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907130" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695633.1:n.375C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS907138" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695643.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512078.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512078.1:p.Ser21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS907148" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000703407.1:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000512057.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000512057.1:p.Ser21_Ser483delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000308176.8:p.Ser21Ter", "hgvsWellDefined": "ENSP00000308176.8:p.Ser21_Ser659delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.62C>A" }, "RefSeq": { "hgvs": "NM_000061.3:c.62C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Ser21Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Ser21Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Ser21Ter", "hgvsWellDefined": "ENSP00000308176.7:p.Ser21_Ser659delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000361971.1:p.Ser21_Ser483delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000464567.1:n.179C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308367" }, { "coordinates": [ { "allele": "A", "end": 62, "referenceAllele": "C", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.62C>A" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Ser21Ter", "hgvsWellDefined": "ENSP00000479125.1:p.Ser21_Ser568delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.164C>A" ], "proteinEffect": { "hgvs": "ENSP00000483570.1:p.Ser55Ter", "hgvsWellDefined": "ENSP00000483570.1:p.Ser55_Ser693delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405360" }, { "@id": "http://reg.genome.network/allele/PA2825028597", "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "C", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.62C>A", "LRG_128t1:c.62C>A" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Ser21Ter", "hgvsWellDefined": "NP_000052.1:p.Ser21_Ser659delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006125" }, { "@id": "http://reg.genome.network/allele/PA2499245967", "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.164C>A" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Ser55Ter", "hgvsWellDefined": "NP_001274273.1:p.Ser55_Ser693delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023307" }, { "@id": "http://reg.genome.network/allele/PA2826742644", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.62C>A" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Ser21Ter", "hgvsWellDefined": "NP_001274274.1:p.Ser21_Ser483delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023308" }, { "@id": "http://reg.genome.network/allele/PA2825028597", "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.62C>A" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Ser21Ter", "hgvsWellDefined": "NP_000052.1:p.Ser21_Ser659delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.62C>A" }, "RefSeq": { "hgvs": "NM_000061.3:c.62C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Ser21Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Ser21Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499245967", "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.164C>A" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Ser55Ter", "hgvsWellDefined": "NP_001274273.1:p.Ser55_Ser693delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2826742644", "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.62C>A" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Ser21Ter", "hgvsWellDefined": "NP_001274274.1:p.Ser21_Ser483delinsProLeuAsnPheLysLysArgLeuPheLeuLeuThrValHisLysLeuSerTyrTyrGluTyrAspPheGluArgGlyArgArgGlySerLysLysGlySerIleAspValGluLysIleThrCysValGluThrValValProGluLysAsnProProProGluArgGlnIleProArgArgGlyGluGluSerSerGluMetGluGlnIleSerIleIleGluArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }