HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000489799.1:p.[Ala242_Asp243insLeuIleProLeuGluValProThrGlyAlaSerSerProThrGlnArg;Asp243_Leu244insTrpGlnGluGln;Leu244_Ile245insValValGlyHisAsnValSerPheAspArgAlaHis;Ile245_Pro246insArgGluGlnTyrLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGln;Pro246_Leu247insProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrp;Leu247_Glu248insAspIleSerSerValAsnSerLeuAla;Val249_Pro250insHisArgLeuTyrValGlyGly;Pro250_Thr251insProLeuGluLysGluProArgGluLeuPheValLysGly;Thr251_Gly252insMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAla;Gly252_Ala253insMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluSerGlyLeuAlaLeuTerGluProThrGlyAlaSerSerProThrGlnArgAspTrpGlnGluGlnLeuValValGlyHisAsnValSerPheAspArgAlaHisIleArgGluGlnTyrLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluSerGlyLeuAlaLeuTerThr] |