HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496018.1:p.[Tyr163_Lys167delinsArgGluProGlnSer;Thr170_Ile176delinsGlnAlaTyrAspMetAspPro;Leu178del;Asn180_Phe185delinsGlu;Glu187del;Thr189_Pro192del] |
CA2596122945
ENST00000643341.1:c.486_487del
|