HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000508332.1:p.[Phe43del;Ter461_Ala462insLeuAlaAspSerProIleProGluArgGlyAspLeuSerCysArgMetHisThrCysPheAspValTyrArgCysGlyPheAsnProLysAsnLysIleLysValTyrIleTyrAlaLeuLysLysTyrValAspAspPheGlyValSerValSerAsnThrIleSerArgGluTyrAsnGluLeuLeuMetAlaIleSerAspSerAspTyrTyrThrAspAspIleAsnArgAlaCysLeuPheValProSerIleAspValLeuAsnGlnAsnThrLeuArgIleLysGluThrAlaGlnAlaMetAlaGlnLeuSerArgTrpAspArgGlyThrAsnHisLeuLeuPheAsnMetLeuProGlyGlyProProAspTyrAsnThrAlaLeuAspValProArgAspArgAlaLeuLeuAlaGlyGlyGlyPheSerThrTrpThrTyrArgGlnGlyTyrAspValSerIleProValTyrSerProLeuSerAlaGluValAspLeuProGluLysGlyProGlyProArgGlnTyrPheLeuLeuSerSerGlnValGlyLeuHisProGluTyrArgGluAspLeuGluAlaLeuGlnValLysHisGlyGluSerValLeuValLeuAspLysCysThrAsnLeuSerGluGlyValLeuSerValArgLysArgCysHisLysHisGlnValPheAspTyrProGlnValLeuGlnGluAlaThrPheCysValValLeuArgGlyAlaArgLeuGlyGlnAlaValLeuSerAspValLeuGlnAlaGlyCysValProValValIleAlaAspSerTyrIleLeuProPheSerGluValLeuAspTrpLysArgAlaSerValValValProGluGluLysMetSerAspValTyrSerIleLeuGlnSerIleProGlnArgGlnIleGluGluMetGlnArgGlnAlaArgTrpPheTrpGluAlaTyrPheGlnSerIleLysAlaIleAlaLeuAlaThrLeuGlnIleIleAsnAspArgIleTyrProTyrAlaAlaIleSerTyrGluGluTrpAsnAspProProAlaValGlnAlaValArgCysProValGlyTrpLeuThrValLeuSerAlaAsnLeuCysThrCysArgSerAlaCysProTer] |