HGVS (amino-acid) | Matching Registered Transcripts |
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XP_024303326.1:p.[Met492_Glu493insArgCysTrpAlaGlnAspProAla;Arg494_Cys495insProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThr;Trp496delinsPheAsp;Ala497_Gln498insIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGly;Gln498_Asp499insArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeu;Asp499_Pro500insAlaValSerSerPheArgIleArgHisArg;Pro500_Ala501insHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTerAsp] |