HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520182del , CM000674.2:g.52520182del | GRCh38 |
NC_000012.11:g.52913966del , CM000674.1:g.52913966del | GRCh37 |
NC_000012.10:g.51200233del | NCBI36 |
NG_008297.1:g.5282del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.119del MANE Select | ENSP00000252242.4:p.Gly40ValfsTer? | |
ENST00000252242.8:c.119del | ENSP00000252242.4:p.Gly40ValfsTer? | |
ENST00000546577.1:c.119del | ENSP00000449651.1:p.Gly40ValfsTer? | |
ENST00000549420.1:c.43+76del | ENSP00000447209.1:n.43+76del | |
ENST00000551275.1:c.119del | ENSP00000448041.1:p.Gly40ValfsTer? | |
ENST00000552629.5:n.217del | ||
NM_000424.3:c.119del | NP_000415.2:p.Gly40ValfsTer? | |
NM_000424.4:c.119del MANE Select | NP_000415.2:p.Gly40ValfsTer? |