HGVS | Genome Assembly |
---|---|
NC_000010.11:g.100045684_100045685delinsTC , CM000672.2:g.100045684_100045685delinsTC | GRCh38 |
NC_000010.10:g.101805441_101805442delinsTC , CM000672.1:g.101805441_101805442delinsTC | GRCh37 |
NC_000010.9:g.101795431_101795432delinsTC | NCBI36 |
NG_012060.1:g.41201_41202delinsGA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370418.8:c.1230+3073_1230+3074delinsGA MANE Select | ENSP00000359446.3:n.1230+3073_1230+3074de... | |
ENST00000370418.7:c.1230+3073_1230+3074delinsGA | ENSP00000359446.3:n.1230+3073_1230+3074de... | |
NM_001308.2:c.1230+3073_1230+3074delinsGA | NP_001299.1:n.1230+3073_1230+3074delinsGA... | |
XM_011539299.1:c.1272+3073_1272+3074delinsGA | XP_011537601.1:n.1272+3073_1272+3074delin... | |
NM_001308.3:c.1230+3073_1230+3074delinsGA MANE Select | NP_001299.1:n.1230+3073_1230+3074delinsGA... |