HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000475553.3:p.[Asn509del;Lys511_Glu514delinsLeuAsnGlnLeu;Leu516_Asn522delinsAsnTrpThr;Ser525_Asn528delinsGlyValIleLeu;Ser530_His538delinsLeuPro] |
CA916082205
ENST00000440875.6:c.1526del
|