HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
XP_011512394.1:p.[Arg2714del;Ter3024_Asn3025insHisLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer] |