HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401449del , CM000685.2:g.38401449del | GRCh38 |
NC_000023.10:g.38260702del , CM000685.1:g.38260702del | GRCh37 |
NC_000023.9:g.38145646del | NCBI36 |
NG_008471.1:g.53967del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.540+21del MANE Select | ENSP00000039007.4:n.540+21del | |
ENST00000643344.1:c.*290+21del | ENSP00000496606.1:n.*290+21del | |
ENST00000039007.4:c.540+21del | ENSP00000039007.4:n.540+21del | |
ENST00000465127.1:c.172-264672del | ENSP00000417050.1:n.172-264672del | |
ENST00000488812.1:n.577+21del | ||
NM_000531.5:c.540+21del | NP_000522.3:n.540+21del | |
XM_017029556.1:c.540+21del | XP_016885045.1:n.540+21del | |
NM_000531.6:c.540+21del MANE Select | NP_000522.3:n.540+21del |