HGVS (amino-acid) | Transcript change |
---|---|
NP_006431.2:p.[Cys279delinsAlaProSerArgValArgArgLeuProAspGlyGlnLeuGlnValThrTrpGluAspSerThrThrGlyLysGluAspThrGlyThrPheAspThrValLeuTrpAlaIleGlyArgValProAspThrArgSerLeuAsnLeuGluLysAlaGlyValAspThrSerProAspThrGlnLysIleLeuValAspSerArgGluAlaThrSerValProHisIleTyrAlaIleGlyAspValValGluGlyArgProGluLeuThrProIleAlaIleMetAlaGlyArgLeuLeuValGlnArgLeuPheGlyGlySerSerAspLeuMetAspTyrAspAsnValProThrThrValPheThrProLeuGluTyrGlyCysValGlyLeuSerGluGluGluAlaValAlaArgHisGlyGlnGluHisValGluValTyrHisAlaHisTyrLysProLeuGluPheThrValAlaGlyArgAspAlaSerGlnCysTyrValLysMetValCysLeuArgGluProProGlnLeuValLeuGlyLeuHisPheLeuGlyProAsnAlaGlyGluValThrGlnGlyPheAlaLeuGlyIleLysCysGlyAlaSerTyrAlaGlnValMetArgThrValGlyIleHisProThrCysSerGluGluValValLysLeuArgIleSerLysArgSerGlyLeuAspProThrValThrGlyCysTer;Gly524Ter] |