HGVS (amino-acid) | Transcript change |
---|---|
ENSP00000466872.2:p.[Tyr90delinsAlaGluCysGlyLeuArgIleLeuAlaPheProCysAsnGlnPheGlyLysGlnGluProGlySerAsnGluGluIleLysGluPheAlaAlaGlyTyrAsnValLysPheAspMetPheSerLysIleCysValAsnGlyAspAspAlaHisProLeuTrpLysTrpMetLysIleGlnProLysGlyLysGlyIleLeuGlyAsnSerSerSerThrArgThrAlaAlaTrpTer;Ser170_Ter180delinsAlaThrAspProTrpArgSerProTrp] |