HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520096del , CM000674.2:g.52520096del | GRCh38 |
NC_000012.11:g.52913880del , CM000674.1:g.52913880del | GRCh37 |
NC_000012.10:g.51200147del | NCBI36 |
NG_008297.1:g.5365del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.202del MANE Select | ENSP00000252242.4:p.Leu68TrpfsTer? | |
ENST00000252242.8:c.202del | ENSP00000252242.4:p.Leu68TrpfsTer? | |
ENST00000546577.1:c.202del | ENSP00000449651.1:p.Leu68TrpfsTer? | |
ENST00000549420.1:c.43+159del | ENSP00000447209.1:n.43+159del | |
ENST00000551275.1:c.172+30del | ENSP00000448041.1:n.172+30del | |
ENST00000552629.5:n.300del | ||
NM_000424.3:c.202del | NP_000415.2:p.Leu68TrpfsTer? | |
NM_000424.4:c.202del MANE Select | NP_000415.2:p.Leu68TrpfsTer? |