HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001087241.1:p.[Asn486_Phe508delinsMetAlaArgLeuAsnValArgLeuThrThrMetTrpAlaArgLeuLeuProIleLeuThrLeuHisLeu;Glu510_His513delinsSerLysSerIle;His515Thr] |
CA2670658670
NM_001093772.2:c.1457del
|