HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039126_197039128del , CM000663.2:g.197039126_197039128del | GRCh38 |
NC_000001.10:g.197008256_197008258del , CM000663.1:g.197008256_197008258del | GRCh37 |
NC_000001.9:g.195274879_195274881del | NCBI36 |
NG_012065.1:g.33143_33145del , LRG_550:g.33143_33145del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*253_*255del MANE Select | ENSP00000356382.2:n.*253_*255del | |
ENST00000649282.1:c.994_996del | ENSP00000497116.1:n.994_996del | |
XM_011509283.2:c.*1174_*1176del | XP_011507585.1:n.*1174_*1176del | |
XM_011509284.2:c.*1174_*1176del | XP_011507586.1:n.*1174_*1176del | |
XM_011509286.2:c.*1174_*1176del | XP_011507588.1:n.*1174_*1176del | |
NM_001994.3:c.*253_*255del MANE Select | NP_001985.2:n.*253_*255del |