HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740673_67740678del , CM000666.2:g.67740673_67740678del | GRCh38 |
NC_000004.11:g.68606391_68606396del , CM000666.1:g.68606391_68606396del | GRCh37 |
NC_000004.10:g.68288986_68288991del | NCBI36 |
NG_009293.1:g.20409_20414del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.789_794del MANE Select | ENSP00000226413.5:p.Lys264_Thr265del | |
ENST00000226413.4:c.789_794del | ENSP00000226413.4:p.Lys264_Thr265del | |
ENST00000420975.2:c.661_666del | ENSP00000397561.2:p.Glu221_Asp222del | |
NM_000406.2:c.789_794del | NP_000397.1:p.Lys264_Thr265del | |
NM_001012763.1:c.661_666del | NP_001012781.1:p.Glu221_Asp222del | |
NM_000406.3:c.789_794del MANE Select | NP_000397.1:p.Lys264_Thr265del | |
NM_001012763.2:c.661_666del | NP_001012781.1:p.Glu221_Asp222del |