HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000383362.1:p.[Lys65delinsLeuMetHisGlnAlaAlaLeuLeuGlyGlyLeuIleGlnAspAlaProAsnTyrGlyTrpGluValAlaGlnProValProHisAspTrpArgLysMetAlaGluAlaValGlnAsnHisValLysSerLeuAsnTrpGlyHisArgValGlnLeuGlnAspArgLysValLysTyrPheAsnIleLysAlaSerPheValAspGluHisThrValCysGlyValAlaLysGlyGlyLysGluIleLeuLeuSerAlaAspHisIleIleIleAlaThrGlyGlyArgProArgTyrProThrHisIleGluGlyAlaLeuGluTyrGlyIleThrSerAspAspIlePheTrpLeuLysGluSerProGlyLysThrLeuValValGlyAlaSerTyrValAlaLeuGluCysAlaGlyPheLeuThrGlyIleGlyLeuAspThrThrIleMetMetArgSerIleProLeuArgGlyPheAspGlnGlnMetSerSerMetValIleGluHisMetAlaSerHisGlyThrArgPheLeuArgGlyCysAlaProSerArgValArgArgLeuProAspGlyGlnLeuGlnValThrTrpGluAspSerThrThrGlyLysGluAspThrGlyThrPheAspThrValLeuTrpAlaIleGlyArgValProAspThrArgSerLeuAsnLeuGluLysAlaGlyValAspThrSerProAspThrGlnLysIleLeuValAspSerArgGluAlaThrSerValProHisIleTyrAlaIleGlyAspValValGluGlyArgProGluLeuThrProIleAlaIleMetAlaGlyArgLeuLeuValGlnArgLeuPheGlyGlySerSerAspLeuMetAspTyrAspAsnValProThrThrValPheThrProLeuGluTyrGlyCysValGlyLeuSerGluGluGluAlaValAlaArgHisGlyGlnGluHisValGluValTyrHisAlaHisTyrLysProLeuGluPheThrValAlaGlyArgAspAlaSerGlnCysTyrValLysMetValCysLeuArgGluProProGlnLeuValLeuGlyLeuHisPheLeuGlyProAsnAlaGlyGluValThrGlnGlyPheAlaLeuGlyIleLysCysGlyAlaSerTyrAlaGlnValMetArgThrValGlyIleHisProThrCysSerGluGluValValLysLeuArgIleSerLysArgSerGlyLeuAspProThrValThrGlyCysTer;Ter493_Gly494delinsGlyTer] |