HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24290537_24290538del , CM000668.2:g.24290537_24290538del | GRCh38 |
NC_000006.11:g.24290765_24290766del , CM000668.1:g.24290765_24290766del | GRCh37 |
NC_000006.10:g.24398744_24398745del | NCBI36 |
NG_012829.1:g.72517_72518del | |
NG_012829.2:g.97757_97758del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.704+396_704+397del MANE Select | ENSP00000367715.3:n.704+396_704+397del | |
ENST00000378454.7:c.704+396_704+397del | ENSP00000367715.3:n.704+396_704+397del | |
NM_001195610.1:c.704+396_704+397del | NP_001182539.1:n.704+396_704+397del | |
NM_016356.4:c.704+396_704+397del | NP_057440.2:n.704+396_704+397del | |
NM_016356.5:c.704+396_704+397del MANE Select | NP_057440.2:n.704+396_704+397del | |
NM_001195610.2:c.704+396_704+397del | NP_001182539.1:n.704+396_704+397del |