HGVS (amino-acid) | Transcript change |
---|---|
ENSP00000450980.1:p.[Ser188delinsValAlaAspPheLeuLeuValTyrIleAspGluAlaHisProSerAspGlyTrpAlaIleProGlyAspSerSerLeuSerPheGluValLysLysHisGlnAsnGlnGluAspArgCysAlaAlaAlaGlnGlnLeuLeuGluArgPheSerLeuProProGlnCysArgValValAlaAspArgMetAspAsnAsnAlaAsnIleAlaTyrGlyValAlaPheGluArgValCysIleValGlnArgGlnLysIleAlaTyrLeuGlyGlyLysGlyProPheSerTyrAsnLeuGlnGluValArgHisTrpLeuGluLysAsnPheSerLysArgTer;Lys304del] |