HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000404119.2:p.[Trp483Leu;Tyr485_Val491delinsValSerAlaThrGlyAspArgArg;Lys494delinsAlaValProGly;Ser496Pro;Gly498_Tyr499delinsGlu;Ser502_Thr503del;Trp505_Tyr512delinsGluArgGlyGlyAlaProIle] |
CA1139532749
ENST00000423007.6:c.1447dup
|