HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117076_19117078del , CM000669.2:g.19117076_19117078del | GRCh38 |
NC_000007.13:g.19156699_19156701del , CM000669.1:g.19156699_19156701del | GRCh37 |
NC_000007.12:g.19123224_19123226del | NCBI36 |
NG_008114.1:g.5608_5610del | |
NG_008114.2:g.5608_5610del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.257_259del MANE Select | ENSP00000242261.5:p.Gly86del | |
ENST00000242261.5:c.257_259del | ENSP00000242261.5:p.Gly86del | |
ENST00000354571.5:c.54_56del | ||
NM_000474.3:c.257_259del | NP_000465.1:p.Gly86del | |
XM_011515496.1:c.257_259del | XP_011513798.1:p.Gly86del | |
NR_149001.1:n.608_610del | ||
NM_000474.4:c.257_259del MANE Select | NP_000465.1:p.Gly86del | |
NR_149001.2:n.572_574del |