HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114670468_114670469del , CM000674.2:g.114670468_114670469del | GRCh38 |
NC_000012.11:g.115108273_115108274del , CM000674.1:g.115108273_115108274del | GRCh37 |
NC_000012.10:g.113592656_113592657del | NCBI36 |
NG_008315.1:g.18696_18697del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000349155.7:c.*1372_*1373del MANE Select | ENSP00000257567.2:n.*1372_*1373del | |
ENST00000257566.7:c.*1372_*1373del | ENSP00000257566.3:n.*1372_*1373del | |
ENST00000349155.6:c.*1372_*1373del | ENSP00000257567.2:n.*1372_*1373del | |
NM_005996.3:c.*1372_*1373del | NP_005987.3:n.*1372_*1373del | |
NM_016569.3:c.*1372_*1373del | NP_057653.3:n.*1372_*1373del | |
NM_005996.4:c.*1372_*1373del MANE Select | NP_005987.3:n.*1372_*1373del | |
NM_016569.4:c.*1372_*1373del | NP_057653.3:n.*1372_*1373del |