HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840511_84840527del , CM000677.2:g.84840511_84840527del | GRCh38 |
NC_000015.9:g.85383742_85383758del , CM000677.1:g.85383742_85383758del | GRCh37 |
NC_000015.8:g.83184746_83184762del | NCBI36 |
NG_054748.1:g.28881_28897del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.1232_1248del MANE Select | ENSP00000258888.6:p.Val411GlyfsTer? | |
ENST00000258888.5:c.1838_1854del | ENSP00000258888.5:p.Val613GlyfsTer? | |
NM_020778.4:c.1838_1854del | NP_065829.3:p.Val613GlyfsTer? | |
NM_020778.5:c.1232_1248del MANE Select | NP_065829.4:p.Val411GlyfsTer? |