HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001353425.1:p.[Cys112delinsHisLeuLeuAspPheAlaSerProGluArgProLeuValValAsnPheGlySerAlaThrTer;Ter133_Arg265delinsProProPheThrSerGlnLeuProAlaPheArgLysLeuValGluGluPheSerSerValAlaAspPheLeuLeuValTyrIleAspGluAlaHisProSerAspGlyTrpAlaIleProGlyAspSerSerLeuSerPheGluValLysLysHisGlnAsnGlnGluAspArgCysAlaAlaAlaGlnGlnLeuLeuGluArgPheSerLeuProProGlnCysArgValValAlaAspArgMetAspAsnAsnAlaAsnIleAlaTyrGlyValAlaPheGluArgValCysIleValGlnArgGlnLysIleAlaTyrLeuGlyGlyLysGlyProPheSerTyrAsnLeuGlnGluValArgHisTrpLeuGluLysAsnPheSerLysArgTer] |