HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38381337del , CM000685.2:g.38381337del | GRCh38 |
NC_000023.10:g.38240590del , CM000685.1:g.38240590del | GRCh37 |
NC_000023.9:g.38125534del | NCBI36 |
NG_008471.1:g.33855del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.299-5del MANE Select | ENSP00000039007.4:n.299-5del | |
ENST00000643344.1:c.*49-5del | ENSP00000496606.1:n.*49-5del | |
ENST00000039007.4:c.299-5del | ENSP00000039007.4:n.299-5del | |
ENST00000465127.1:c.172-284784del | ENSP00000417050.1:n.172-284784del | |
ENST00000488812.1:n.354-23del | ||
NM_000531.5:c.299-5del | NP_000522.3:n.299-5del | |
XM_017029556.1:c.299-5del | XP_016885045.1:n.299-5del | |
NM_000531.6:c.299-5del MANE Select | NP_000522.3:n.299-5del |