HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47881832_47881846del , CM000681.2:g.47881832_47881846del | GRCh38 |
NC_000019.9:g.48385089_48385103del , CM000681.1:g.48385089_48385103del | GRCh37 |
NC_000019.8:g.53076901_53076915del | NCBI36 |
NG_016745.1:g.9552_9566del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222002.4:c.472+238_472+252del MANE Select | ENSP00000222002.2:n.472+238_472+252del | |
ENST00000222002.3:c.472+238_472+252del | ENSP00000222002.2:n.472+238_472+252del | |
NM_003167.3:c.472+238_472+252del | NP_003158.2:n.472+238_472+252del | |
NM_003167.4:c.472+238_472+252del MANE Select | NP_003158.2:n.472+238_472+252del |