HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000383363.1:p.[Lys94delinsLeuMetHisGlnAlaAlaLeuLeuGlyGlyLeuIleGlnAspAlaProAsnTyrGlyTrpGluValAlaGlnProValProHisAspTrpArgLysMetAlaGluAlaValGlnAsnHisValLysSerLeuAsnTrpGlyHisArgValGlnLeuGlnAspArgLysValLysTyrPheAsnIleLysAlaSerPheValAspGluHisThrValCysGlyValAlaLysGlyGlyLysGluIleLeuLeuSerAlaAspHisIleIleIleAlaThrGlyGlyArgProArgTyrProThrHisIleGluGlyAlaLeuGluTyrGlyIleThrSerAspAspIlePheTrpLeuLysGluSerProGlyLysThrLeuValValGlyAlaSerTyrValAlaLeuGluCysAlaGlyPheLeuThrGlyIleGlyLeuAspThrThrIleMetMetArgSerIleProLeuArgGlyPheAspGlnGlnMetSerSerMetValIleGluHisMetAlaSerHisGlyThrArgPheLeuArgGlyCysAlaProSerArgValArgArgLeuProAspGlyGlnLeuGlnValThrTrpGluAspSerThrThrGlyLysGluAspThrGlyThrPheAspThrValLeuTrpAlaIleGlyArgValProAspThrArgSerLeuAsnLeuGluLysAlaGlyValAspThrSerProAspThrGlnLysIleLeuValAspSerArgGluAlaThrSerValProHisIleTyrAlaIleGlyAspValValGluGlyArgProGluLeuThrProIleAlaIleMetAlaGlyArgLeuLeuValGlnArgLeuPheGlyGlySerSerAspLeuMetAspTyrAspAsnValProThrThrValPheThrProLeuGluTyrGlyCysValGlyLeuSerGluGluGluAlaValAlaArgHisGlyGlnGluHisValGluValTyrHisAlaHisTyrLysProLeuGluPheThrValAlaGlyArgAspAlaSerGlnCysTyrValLysMetValCysLeuArgGluProProGlnLeuValLeuGlyLeuHisPheLeuGlyProAsnAlaGlyGluValThrGlnGlyPheAlaLeuGlyIleLysCysGlyAlaSerTyrAlaGlnValMetArgThrValGlyIleHisProThrCysSerGluGluValValLysLeuArgIleSerLysArgSerGlyLeuAspProThrValThrGlyCysTer;Ter522_Gly523delinsGlyTer] |