HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24277950_24277951del , CM000668.2:g.24277950_24277951del | GRCh38 |
NC_000006.11:g.24278178_24278179del , CM000668.1:g.24278178_24278179del | GRCh37 |
NC_000006.10:g.24386157_24386158del | NCBI36 |
NG_012829.1:g.85106_85107del | |
NG_012829.2:g.110346_110347del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.922+102_922+103del MANE Select | ENSP00000367715.3:n.922+102_922+103del | |
ENST00000378454.7:c.922+102_922+103del | ENSP00000367715.3:n.922+102_922+103del | |
NM_001195610.1:c.922+102_922+103del | NP_001182539.1:n.922+102_922+103del | |
NM_016356.4:c.922+102_922+103del | NP_057440.2:n.922+102_922+103del | |
NM_016356.5:c.922+102_922+103del MANE Select | NP_057440.2:n.922+102_922+103del | |
NM_001195610.2:c.922+102_922+103del | NP_001182539.1:n.922+102_922+103del |