{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413938079", "communityStandardTitle": [ "NM_000061.3(BTK):c.286G>T (p.Glu96Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3005960[alleleid]", "alleleId": 3005960, "preferredName": "NM_000061.3(BTK):c.286G>T (p.Glu96Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2850005", "RCV": [ "RCV003625831" ], "variationId": 2850005 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100626644C>A?assembly=hg19", "id": "chrX:g.100626644C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101371656C>A?assembly=hg38", "id": "chrX:g.101371656C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2520668139", "rs": 2520668139 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 101371656, "referenceAllele": "C", "start": 101371655 } ], "hgvs": [ "NC_000023.11:g.101371656C>A", "CM000685.2:g.101371656C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 100626644, "referenceAllele": "C", "start": 100626643 } ], "hgvs": [ "NC_000023.10:g.100626644C>A", "CM000685.1:g.100626644C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 100513300, "referenceAllele": "C", "start": 100513299 } ], "hgvs": [ "NC_000023.9:g.100513300C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 19569, "referenceAllele": "G", "start": 19568 } ], "hgvs": [ "NG_009616.1:g.19569G>T", "LRG_128:g.19569G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001613" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000478995.2:n.446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905263" }, { "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000488970.2:n.444G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905358" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695614.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512053.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512053.1:p.Glu96_Ser659delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907119" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695615.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512054.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512054.1:p.Glu96_Ser659delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907120" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695616.1:c.*131G>T" ], "proteinEffect": { "hgvs": "ENSP00000512055.1:n.*131G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907121" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695617.1:c.283G>T" ], "proteinEffect": { "hgvs": "ENSP00000512056.1:p.Glu95Ter", "hgvsWellDefined": "ENSP00000512056.1:p.Glu95_Ser658delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "G", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.*35G>T" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:n.*35G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.*131G>T" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:n.*131G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.*131G>T" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:n.*131G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512061.1:p.Glu96_Arg544delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512062.1:p.Glu96_Ser638delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512063.1:p.Glu96_Ser657delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907128" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695625.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512064.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512064.1:p.Glu96_Ser648delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907130" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000703407.1:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000512057.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000512057.1:p.Glu96_Ser483delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000308176.8:p.Glu96Ter", "hgvsWellDefined": "ENSP00000308176.8:p.Glu96_Ser659delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.286G>T" }, "RefSeq": { "hgvs": "NM_000061.3:c.286G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Glu96Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Glu96Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Glu96Ter", "hgvsWellDefined": "ENSP00000308176.7:p.Glu96_Ser659delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000361971.1:p.Glu96_Ser483delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "G", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.286G>T" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Glu96Ter", "hgvsWellDefined": "ENSP00000479125.1:p.Glu96_Ser568delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.388G>T" ], "proteinEffect": { "hgvs": "ENSP00000483570.1:p.Glu130Ter", "hgvsWellDefined": "ENSP00000483570.1:p.Glu130_Ser693delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405360" }, { "@id": "http://reg.genome.network/allele/PA2825028639", "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.286G>T", "LRG_128t1:c.286G>T" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Glu96Ter", "hgvsWellDefined": "NP_000052.1:p.Glu96_Ser659delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006125" }, { "@id": "http://reg.genome.network/allele/PA2826742546", "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.388G>T" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Glu130Ter", "hgvsWellDefined": "NP_001274273.1:p.Glu130_Ser693delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023307" }, { "@id": "http://reg.genome.network/allele/PA2741856176", "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.286G>T" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Glu96Ter", "hgvsWellDefined": "NP_001274274.1:p.Glu96_Ser483delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023308" }, { "@id": "http://reg.genome.network/allele/PA2825028639", "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.286G>T" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Glu96Ter", "hgvsWellDefined": "NP_000052.1:p.Glu96_Ser659delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.286G>T" }, "RefSeq": { "hgvs": "NM_000061.3:c.286G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Glu96Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Glu96Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826742546", "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.388G>T" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Glu130Ter", "hgvsWellDefined": "NP_001274273.1:p.Glu130_Ser693delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2741856176", "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.286G>T" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Glu96Ter", "hgvsWellDefined": "NP_001274274.1:p.Glu96_Ser483delinsArgPheProTyrProPheGlnValValTyrAspGluGlyProLeuTyrValPheSerProThrGluGluLeuArgLysArgTrpIleHisGlnLeuLysAsnValIleArgTyrAsnSerAspLeuValGlnLysTyrHisProCysPheTrpIleAspGlyGlnTyrLeuCysCysSerGlnThrAlaLysAsnAlaMetGlyCysGlnIleLeuGluAsnArgAsnGlySerLeuLysProGlySerSerHisArgLysThrLysLysProLeuProProThrProGluGluAspGlnIleLeuLysLysProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }