HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071053_29071087del , CM000664.2:g.29071053_29071087del | GRCh38 |
NC_000002.11:g.29293919_29293953del , CM000664.1:g.29293919_29293953del | GRCh37 |
NC_000002.10:g.29147423_29147457del | NCBI36 |
NG_021427.1:g.8177_8211del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.3177_3211del MANE Select | ENSP00000332809.4:p.Pro1060GlnfsTer? | |
ENST00000331664.5:c.3177_3211del | ENSP00000332809.4:p.Pro1060GlnfsTer? | |
NM_001029883.2:c.3177_3211del | NP_001025054.1:p.Pro1060GlnfsTer? | |
XM_011532826.1:c.3177_3211del | XP_011531128.1:p.Pro1060GlnfsTer? | |
XR_939901.1:n.185+1886_185+1920del | ||
XR_939902.1:n.173+1898_173+1932del | ||
NM_001029883.3:c.3177_3211del MANE Select | NP_001025054.1:p.Pro1060GlnfsTer? |