HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000390987.2:p.[Asn486_Phe508delinsMetAlaArgLeuAsnValArgLeuThrThrMetTrpAlaArgLeuLeuProIleLeuThrLeuHisLeu;Glu510_His513delinsSerLysSerIle;His515Thr] |
CA2670658670
ENST00000412167.6:c.1457del
|