HGVS (amino-acid) | Matching Registered Transcripts |
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XP_011512391.1:p.[Arg2714del;Ter3200_Glu3201insHisLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer] |