HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186205166_186205167del , CM000666.2:g.186205166_186205167del | GRCh38 |
NC_000004.11:g.187126320_187126321del , CM000666.1:g.187126320_187126321del | GRCh37 |
NC_000004.10:g.187363314_187363315del | NCBI36 |
NG_007965.1:g.18647_18648del | |
NG_012095.2:g.1188_1189del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.988-34_988-33del MANE Select | ENSP00000368079.4:n.988-34_988-33del | |
ENST00000378802.4:c.988-34_988-33del | ENSP00000368079.4:n.988-34_988-33del | |
ENST00000502665.1:n.223-34_223-33del | ||
ENST00000507209.5:n.5652_5653del | ||
ENST00000513354.5:n.78-34_78-33del | ||
NM_207352.3:c.988-34_988-33del | NP_997235.3:n.988-34_988-33del | |
XM_005262935.2:c.988-34_988-33del | XP_005262992.1:n.988-34_988-33del | |
XM_006714184.2:c.592-34_592-33del | XP_006714247.1:n.592-34_592-33del | |
XM_005262935.4:c.988-34_988-33del | XP_005262992.1:n.988-34_988-33del | |
XM_017008037.1:c.592-34_592-33del | XP_016863526.1:n.592-34_592-33del | |
NM_207352.4:c.988-34_988-33del MANE Select | NP_997235.3:n.988-34_988-33del |