HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000515480.1:p.Leu48_Ter49insCysGlyThrThrValArgAspTyrThrGlnMetAsnGluLeuGlnArgArgLeuGlyProArgGlyLeuValValLeuGlyPheProCysAsnGlnPheGlyHisGlnAsnAlaLysAsnGluGluIleLeuAsnSerLeuLysTyrValArgProGlyGlyGlyPheGluProAsnPheMetLeuPheGluLysCysGluValAsnGlyAlaGlyAlaHisProLeuPheAlaPheLeuArgGluAlaLeuProAlaProSerAspAspAlaThrAlaLeuMetThrAspProLysLeuIleThrTrpSerProValCysArgAsnAspValAlaTrpAsnPheGluLysPheLeuValGlyProAspGlyValProLeuArgArgTyrSerArgArgPheGlnThrIleAspIleGluProAspIleGluAlaLeuLeuSerGlnGlyProSerCysAla |
CA352783341
ENST00000703795.1:c.147A>T
CA352783343
ENST00000703795.1:c.147A>C
|