HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000453696.2:p.[Ala437del;Ter597_Lys598insValSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTerAlaAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTerLeuValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTerAspIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTerThrSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTer] |