HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114709443_114709446del , CM000663.2:g.114709443_114709446del | GRCh38 |
NC_000001.10:g.115252064_115252067del , CM000663.1:g.115252064_115252067del | GRCh37 |
NC_000001.9:g.115053587_115053590del | NCBI36 |
NG_007572.1:g.12452_12455del , LRG_92:g.12452_12455del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.450+126_450+129del MANE Select | ENSP00000358548.4:n.450+126_450+129del | |
ENST00000369535.4:c.450+126_450+129del | ENSP00000358548.4:n.450+126_450+129del | |
NM_002524.4:c.450+126_450+129del | NP_002515.1:n.450+126_450+129del | |
NM_002524.5:c.450+126_450+129del MANE Select | NP_002515.1:n.450+126_450+129del |