HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_054644.1:p.[Cys112delinsHisLeuLeuAspPheAlaSerProGluArgProLeuValValAsnPheGlySerAlaThrTer;Ter133_Gly273delinsProProPheThrSerGlnLeuProAlaPheArgLysLeuValGluGluPheSerSerValAlaAspPheLeuLeuValTyrIleAspGluAlaHisProSerAspGlyTrpAlaIleProGlyAspSerSerLeuSerPheGluValLysLysHisGlnAsnGlnGluAspArgCysAlaAlaAlaGlnGlnLeuLeuGluArgPheSerLeuProProGlnCysArgValValAlaAspArgMetAspAsnAsnAlaAsnIleAlaTyrGlyValAlaPheGluArgValCysIleValGlnArgGlnLysIleAlaTyrLeuGlyGlyLysGlyProPheSerTyrAsnLeuGlnGluValArgHisTrpLeuGluLysAsnPheSerLysArgTer] |