HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117085del , CM000669.2:g.19117085del | GRCh38 |
NC_000007.13:g.19156708del , CM000669.1:g.19156708del | GRCh37 |
NC_000007.12:g.19123233del | NCBI36 |
NG_008114.1:g.5590del | |
NG_008114.2:g.5590del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.239del MANE Select | ENSP00000242261.5:p.Gly80AlafsTer? | |
ENST00000242261.5:c.239del | ENSP00000242261.5:p.Gly80AlafsTer? | |
ENST00000354571.5:c.36del | ||
NM_000474.3:c.239del | NP_000465.1:p.Gly80AlafsTer? | |
XM_011515496.1:c.239del | XP_011513798.1:p.Gly80AlafsTer? | |
NR_149001.1:n.590del | ||
NM_000474.4:c.239del MANE Select | NP_000465.1:p.Gly80AlafsTer? | |
NR_149001.2:n.554del |