HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848331_40848345del , CM000681.2:g.40848331_40848345del | GRCh38 |
NC_000019.9:g.41354236_41354250del , CM000681.1:g.41354236_41354250del | GRCh37 |
NC_000019.8:g.46046076_46046090del | NCBI36 |
NG_008377.1:g.7105_7119del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.530_544del MANE Select | ENSP00000301141.4:p.Thr177_Val181del | |
ENST00000301141.9:c.530_544del | ENSP00000301141.4:p.Thr177_Val181del | |
ENST00000596719.5:n.381_395del | ||
ENST00000600495.1:c.*342_*356del | ENSP00000472905.1:n.*342_*356del | |
ENST00000601627.1:c.120-43660_120-43646del | ||
ENST00000610301.1:c.530_544del | ENSP00000477899.1:p.Thr177_Val181del | |
NM_000762.5:c.530_544del | NP_000753.3:p.Thr177_Val181del | |
NM_000762.6:c.530_544del MANE Select | NP_000753.3:p.Thr177_Val181del |