HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122507100_122507102del , CM000672.2:g.122507100_122507102del | GRCh38 |
NC_000010.10:g.124266616_124266618del , CM000672.1:g.124266616_124266618del | GRCh37 |
NC_000010.9:g.124256606_124256608del | NCBI36 |
NG_011554.1:g.50576_50578del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.972+215_972+217del MANE Select | ENSP00000357980.3:n.972+215_972+217del | |
ENST00000648167.1:c.654+215_654+217del | ENSP00000498033.1:n.654+215_654+217del | |
ENST00000368984.7:c.972+215_972+217del | ENSP00000357980.3:n.972+215_972+217del | |
ENST00000420892.1:c.195+215_195+217del | ENSP00000412676.1:n.195+215_195+217del | |
NM_002775.4:c.972+215_972+217del | NP_002766.1:n.972+215_972+217del | |
NM_002775.5:c.972+215_972+217del MANE Select | NP_002766.1:n.972+215_972+217del |