HGVS (amino-acid) | Transcript change |
---|---|
ENSP00000405854.4:p.[Ser152delinsValAlaAspPheLeuLeuValTyrIleAspGluAlaHisProSerAspGlyTrpAlaIleProGlyAspSerSerLeuSerPheGluValLysLysHisGlnAsnGlnGluAspArgCysAlaAlaAlaGlnGlnLeuLeuGluArgPheSerLeuProProGlnCysArgValValAlaAspArgMetAspAsnAsnAlaAsnIleAlaTyrGlyValAlaPheGluArgValCysIleValGlnArgGlnLysIleAlaTyrLeuGlyGlyLysGlyProPheSerTyrAsnLeuGlnGluValArgHisTrpLeuGluLysAsnPheSerLysArgTer;Lys268del] |