HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47881831_47881832del , CM000681.2:g.47881831_47881832del | GRCh38 |
NC_000019.9:g.48385088_48385089del , CM000681.1:g.48385088_48385089del | GRCh37 |
NC_000019.8:g.53076900_53076901del | NCBI36 |
NG_016745.1:g.9566_9567del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222002.4:c.472+252_472+253del MANE Select | ENSP00000222002.2:n.472+252_472+253del | |
ENST00000222002.3:c.472+252_472+253del | ENSP00000222002.2:n.472+252_472+253del | |
NM_003167.3:c.472+252_472+253del | NP_003158.2:n.472+252_472+253del | |
NM_003167.4:c.472+252_472+253del MANE Select | NP_003158.2:n.472+252_472+253del |