HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6044211_6044212del , CM000674.2:g.6044211_6044212del | GRCh38 |
NC_000012.11:g.6153377_6153378del , CM000674.1:g.6153377_6153378del | GRCh37 |
NC_000012.10:g.6023638_6023639del | NCBI36 |
NG_009072.1:g.85465_85466del | |
NG_009072.2:g.85465_85466del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2442+85_2442+86del MANE Select | ENSP00000261405.5:n.2442+85_2442+86del | |
ENST00000261405.9:c.2442+85_2442+86del | ENSP00000261405.5:n.2442+85_2442+86del | |
ENST00000538635.5:n.421-50272_421-50271del | ||
NM_000552.3:c.2442+85_2442+86del | NP_000543.2:n.2442+85_2442+86del | |
NM_000552.4:c.2442+85_2442+86del | NP_000543.2:n.2442+85_2442+86del | |
NM_000552.5:c.2442+85_2442+86del MANE Select | NP_000543.3:n.2442+85_2442+86del |