HGVS (amino-acid) | Transcript change |
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ENSP00000485128.2:p.[Cys183delinsAlaProSerArgValArgArgLeuProAspGlyGlnLeuGlnValThrTrpGluAspSerThrThrGlyLysGluAspThrGlyThrPheAspThrValLeuTrpAlaIleGlyArgValProAspThrArgSerLeuAsnLeuGluLysAlaGlyValAspThrSerProAspThrGlnLysIleLeuValAspSerArgGluAlaThrSerValProHisIleTyrAlaIleGlyAspValValGluGlyArgProGluLeuThrProIleAlaIleMetAlaGlyArgLeuLeuValGlnArgLeuPheGlyGlySerSerAspLeuMetAspTyrAspAsnValProThrThrValPheThrProLeuGluTyrGlyCysValGlyLeuSerGluGluGluAlaValAlaArgHisGlyGlnGluHisValGluValTyrHisAlaHisTyrLysProLeuGluPheThrValAlaGlyArgAspAlaSerGlnCysTyrValLysMetValCysLeuArgGluProProGlnLeuValLeuGlyLeuHisPheLeuGlyProAsnAlaGlyGluValThrGlnGlyPheAlaLeuGlyIleLysCysGlyAlaSerTyrAlaGlnValMetArgThrValGlyIleHisProThrCysSerGluGluValValLysLeuArgIleSerLysArgSerGlyLeuAspProThrValThrGlyCysTer;Gly428Ter] |