HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438343.1:p.[Val122_Cys123delinsAlaGlyGlu;Cys125Glu;Ala127_Phe130delinsArgValHis;Arg132_Glu135delinsPro;Val137_Cys139delinsArgPheLeu;Asn141_Cys142delinsLysArg;Lys144_Glu147delinsArgVal;Thr149_Lys150delinsLeu] |
CA603109483
ENST00000540022.5:c.346_364dup
|