HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29070946_29070947del , CM000664.2:g.29070946_29070947del | GRCh38 |
NC_000002.11:g.29293812_29293813del , CM000664.1:g.29293812_29293813del | GRCh37 |
NC_000002.10:g.29147316_29147317del | NCBI36 |
NG_021427.1:g.8315_8316del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.3315_3316del MANE Select | ENSP00000332809.4:p.Glu1106ArgfsTer26 | |
ENST00000331664.5:c.3315_3316del | ENSP00000332809.4:p.Glu1106ArgfsTer26 | |
NM_001029883.2:c.3315_3316del | NP_001025054.1:p.Glu1106ArgfsTer26 | |
XM_011532826.1:c.3315_3316del | XP_011531128.1:p.Glu1106ArgfsTer26 | |
XR_939901.1:n.185+1779_185+1780del | ||
XR_939902.1:n.173+1791_173+1792del | ||
NM_001029883.3:c.3315_3316del MANE Select | NP_001025054.1:p.Glu1106ArgfsTer26 |