HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475177_134475178del , CM000685.2:g.134475177_134475178del | GRCh38 |
NC_000023.10:g.133609207_133609208del , CM000685.1:g.133609207_133609208del | GRCh37 |
NC_000023.9:g.133436873_133436874del | NCBI36 |
NG_012329.1:g.20033_20034del | |
NG_012329.2:g.20033_20034del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.135-4_135-3del MANE Select | ENSP00000298556.7:n.135-4_135-3del | |
ENST00000298556.7:c.135-4_135-3del | ENSP00000298556.7:n.135-4_135-3del | |
ENST00000462974.5:n.293-4_293-3del | ||
ENST00000475720.1:n.93-4_93-3del | ||
NM_000194.2:c.135-4_135-3del | NP_000185.1:n.135-4_135-3del | |
XM_011531328.1:c.153-4_153-3del | XP_011529630.1:n.153-4_153-3del | |
NM_000194.3:c.135-4_135-3del MANE Select | NP_000185.1:n.135-4_135-3del |