HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000354554.2:p.[Leu10delinsIleLysLeuIleAsnHisSerPheIleAspLeuProThrProSerAsnIleSerAlaTer;Ter31_Ser56delinsAsnPheGlySerLeuLeuGlyAlaCysLeuIleLeuGlnIleThrThrGlyLeuPheLeuAlaMetHisTyrSerProAspAlaSerThrAlaPheSerSerIleAlaHisIleThrArgAspValAsnTyrGlyTer;Asp58_Leu133delinsAlaSerThrAlaPheSerSerIleAlaHisIleThrArgAspValAsnTyrGlyTer;Ter135_Ile138delinsGlyGlnIleSerPheTer;Phe140_Thr147delinsTer;Leu150_Ala152delinsSerAlaIleProTyrIleGlyThrAspLeuValGlnTer;Pro154_Tyr168delinsTyrIleGlyThrAspLeuValGlnTer;Val170_Ile189delinsAspSerProThrLeuThrArgPhePheThrPheHisPheIleLeuProPheIleIleAlaAlaLeuAlaThrLeuHisLeuLeuPheLeuHisGluThrGlySerAsnAsnProLeuGlyIleThrSerHisSerAspLysIleThrPheHisProTyrTyrThrIleLysAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Ala191_X381delinsLeuAlaThrLeuHisLeuLeuPheLeuHisGluThrGlySerAsnAsnProLeuGlyIleThrSerHisSerAspLysIleThrPheHisProTyrTyrThrIleLysAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer] |