HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000354961.2:p.[Asp59_Arg135delinsGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyProLeuThrThrProLeuLeuIleLeuThrThr;Asn138_Ala145delinsGlnProGluArgLeuAsnAlaGlyThrTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Thr147_Val155delinsTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Ser157_Leu171delinsLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Ser173_Tyr210delinsLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Leu212_Ala226delinsHisLeuTer;Ser228_Leu238delinsIleValLeuAlaAlaValLeuLeuLysLeuGlyGlyTyrGlyIleIleArgLeuThrLeuIleLeuAsnProLeuThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Tyr241delinsGlyIleIleArgLeuThrLeuIleLeuAsnProLeuThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Ile244del;Ile271_Thr310delinsThrSerSerIleCysLeuArgGlnThrAspLeuLysSerLeuIleAlaTyrSerSerIleSerHisIleAlaLeuValValThrAlaIleLeuIleGlnThrProTer;Ala312_His319delinsValIleLeuIleIleAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Leu321_Gln346delinsThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Leu348_Leu376delinsGlnThrLeuLeuProLeuIleAlaPheTer;Glu378_Thr396delinsLeuSerValLeuValThrThrPheSerTer;Leu398_Val402del;Ala404Pro;Tyr406_Phe411del;Thr414_Lys427del;Ser429_Thr435del;Met437_His440del;Ser442_Pro443del;Leu446_Ile454delinsThr;Gly456_X460del] |