HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425579_84425580delinsAC , CM000664.2:g.84425579_84425580delinsAC | GRCh38 |
NC_000002.11:g.84652703_84652704delinsAC , CM000664.1:g.84652703_84652704delinsAC | GRCh37 |
NC_000002.10:g.84506214_84506215delinsAC | NCBI36 |
NG_016755.1:g.38883_38884delinsGT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.849_850delinsGT MANE Select | ENSP00000377446.2:p.Val283= | |
ENST00000651342.1:c.*289_*290delinsGT | ENSP00000498471.1:n.*289_*290delinsGT | |
ENST00000393868.6:c.849_850delinsGT | ENSP00000377446.2:p.Val283= | |
ENST00000484365.1:n.1357_1358delinsGT | ||
ENST00000487809.1:n.596_597delinsGT | ||
ENST00000491123.5:n.695_696delinsGT | ||
NM_003849.3:c.849_850delinsGT | NP_003840.2:p.Val283= | |
NM_003849.4:c.849_850delinsGT MANE Select | NP_003840.2:p.Val283= |