HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000354961.2:p.[Leu253delinsThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Gly268_Leu277delinsIleIleIleThrSerSerIleCysLeuArgGlnThrAspLeuLysSerLeuIleAlaTyrSerSerIleSerHisIleAlaLeuValValThrAlaIleLeuIleGlnThrProTer;Gln279_Thr280insAsn;Ter307_X460delinsSerPheThrGlyAlaValIleLeuIleIleAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer] |