HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44286587del , CM000683.2:g.44286587del | GRCh38 |
NC_000021.8:g.45706470del , CM000683.1:g.45706470del | GRCh37 |
NC_000021.7:g.44530898del | NCBI36 |
NG_009556.1:g.5708del , LRG_18:g.5708del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000291582.6:c.163del MANE Select | ENSP00000291582.5:p.Cys55AlafsTer13 | |
ENST00000291582.5:c.163del | ENSP00000291582.5:p.Cys55AlafsTer13 | |
ENST00000527919.5:n.324del | ||
ENST00000530812.5:n.332del | ||
NM_000383.3:c.163del | NP_000374.1:p.Cys55AlafsTer13 | |
XM_011529551.1:c.163del | XP_011527853.1:p.Cys55AlafsTer13 | |
NM_000383.4:c.163del MANE Select | NP_000374.1:p.Cys55AlafsTer13 |