HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000507205.1:p.[Glu478_Ala482delinsSerThrCys;Arg484del;Pro486Gly;Leu488_Tyr492delinsProGlnGlyTrp;Pro494_Asn497delinsThrAlaThrThr;Glu499_Glu500delinsAlaThrThr;Leu502Arg;Lys505_Leu507delinsSerProProArgThrTrp] |
CA16609401
ENST00000684654.1:c.1432del
|