HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000506939.1:p.[Glu97Arg;Ile99_Asn104delinsSerThrLysSer;Gly106del;Tyr108_Asn114del;His116_Asp119del;Thr121_Leu122delinsSer;Gly124_Pro126delinsCysSerGlu] |
CA2695216341
ENST00000683988.1:c.289del
|