HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000424104.1:p.[Thr118_Ser127delinsTyrSerGlnValCysAspLeuHisValLeu;Ala129_Cys141delinsCysProGlnGlnAspValLeuProThrGlyGlnAspLeu;Val143_Val147delinsCysAlaAlaValGly] |
CA497925870
ENST00000508793.5:c.351_352insT
|