HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000407914.1:p.[Thr838_Gln839insGluPheHisLysSerProSerIleGluGluLysPro;Gln839_Glu840insArgAlaValProSer;Phe841_His842insAlaAsnGlyLeuSerProThrProValAsnGlyGlyAlaLeuAspLeuThrSerSer;His842_Lys843insAlaGlu;Lys843_Ser844insIleIleLysGluAspSerLeuGlyIleLeuPheProPheArgAspArgGlyLysPheLysAsnThrAlaCysAspIleCysGlyLysThrPheAlaCysGlnSerAlaLeuAspIleHisTyrArgSerHisThrLysGluArgProPheIleCysThrValCysAsnArgGlyPheSerThrLysGlyAsnLeuLysGlnHisMetLeuThrHisGlnMetArgAspLeuProSerGlnLeuPheGluProSerSerAsnLeuGlyProAsnGlnAsnSerAlaValIleProAlaAsnSerLeuSerSerLeuIleLysThrGluValAsnGlyPheValHisValSerProGlnAspSerLysAspThrProThrSerHisValProSerGlyProLeuSerSerSerAlaThrSerProValLeuLeuProAlaLeuProArgArgThrProLysGlnHisTyrCysAsnThrCysGlyLysThrPheSerSerSerSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheAlaCysThrIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisMetGlyThrHisMetTrpAsnSerThrProAlaArgArgGlyArgArgLeuSerValAspGlyProMetThrPheLeuGlyGlyAsnProValLysPheProGluMetPheGlnLysAspLeuAlaAlaArgSerGlySerGlyAspProSerSerPheTrpAsnGlnTyrAlaAlaAlaLeuSerAsnGlyLeuAlaMetLysAlaAsnGluIleSerValIleGlnAsnGlyGlyIleProProIleProGlySerLeuGlySerGlyAsnSerSerProValSerGlyLeuThrGlyAsnLeuGluArgLeuGlnAsnSerGluProAsnAlaProLeuAlaGlyLeuGluLysMetAlaSerSerGluAsnGlyThrAsnPheArgPheThrArgPheValGluAspSerLysGluIleValThrSerTerHis] |