HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438689.2:p.[Ile251_Ala255delinsArgAlaLeuLysArg;Pro257_Pro259delinsArg;Gly261_Thr265delinsSerLeuHisProAsn;Asn267_Lys270delinsCysCysAlaGlnPro;Trp272_Ile273insLys;Ser274_Leu278delinsLeuTyrProGlnTrpLysGln;Ala279_Asp280insLeu;Asp280_Ile281insGln] |
CA8337802
ENST00000543245.6:c.721_751dup
|