HGVS (amino-acid) | Transcript change |
---|---|
ENSP00000383363.1:p.[Ser386delinsAspLeuMetAspTyrAspAsnValProThrThrValPheThrProLeuGluTyrGlyCysValGlyLeuSerGluGluGluAlaValAlaArgHisGlyGlnGluHisValGluValTyrHisAlaHisTyrLysProLeuGluPheThrValAlaGlyArgAspAlaSerGlnCysTyrValLysMetValCysLeuArgGluProProGlnLeuValLeuGlyLeuHisPheLeuGlyProAsnAlaGlyGluValThrGlnGlyPheAlaLeuGlyIleLysCysGlyAlaSerTyrAlaGlnValMetArgThrValGlyIleHisProThrCysSerGluGluValValLysLeuArgIleSerLysArgSerGlyLeuAspProThrValThrGlyCysTer;Gly523Ter] |