HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5968883_5968885del , CM000674.2:g.5968883_5968885del | GRCh38 |
NC_000012.11:g.6078049_6078051del , CM000674.1:g.6078049_6078051del | GRCh37 |
NC_000012.10:g.5948310_5948312del | NCBI36 |
NG_009072.1:g.160795_160797del | |
NG_009072.2:g.160795_160797del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.7729+335_7729+337del MANE Select | ENSP00000261405.5:n.7729+335_7729+337del | |
ENST00000261405.9:c.7729+335_7729+337del | ENSP00000261405.5:n.7729+335_7729+337del | |
NM_000552.3:c.7729+335_7729+337del | NP_000543.2:n.7729+335_7729+337del | |
NM_000552.4:c.7729+335_7729+337del | NP_000543.2:n.7729+335_7729+337del | |
NM_000552.5:c.7729+335_7729+337del MANE Select | NP_000543.3:n.7729+335_7729+337del |