HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071285_29071292del , CM000664.2:g.29071285_29071292del | GRCh38 |
NC_000002.11:g.29294151_29294158del , CM000664.1:g.29294151_29294158del | GRCh37 |
NC_000002.10:g.29147655_29147662del | NCBI36 |
NG_021427.1:g.7970_7977del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.2970_2977del MANE Select | ENSP00000332809.4:p.Arg992LeufsTer? | |
ENST00000331664.5:c.2970_2977del | ENSP00000332809.4:p.Arg992LeufsTer? | |
NM_001029883.2:c.2970_2977del | NP_001025054.1:p.Arg992LeufsTer? | |
XM_011532826.1:c.2970_2977del | XP_011531128.1:p.Arg992LeufsTer? | |
XR_939901.1:n.185+2118_185+2125del | ||
XR_939902.1:n.173+2130_173+2137del | ||
NM_001029883.3:c.2970_2977del MANE Select | NP_001025054.1:p.Arg992LeufsTer? |