HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24277986_24277997del , CM000668.2:g.24277986_24277997del | GRCh38 |
NC_000006.11:g.24278214_24278225del , CM000668.1:g.24278214_24278225del | GRCh37 |
NC_000006.10:g.24386193_24386204del | NCBI36 |
NG_012829.1:g.85057_85068del | |
NG_012829.2:g.110297_110308del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.922+53_922+64del MANE Select | ENSP00000367715.3:n.922+53_922+64del | |
ENST00000378454.7:c.922+53_922+64del | ENSP00000367715.3:n.922+53_922+64del | |
NM_001195610.1:c.922+53_922+64del | NP_001182539.1:n.922+53_922+64del | |
NM_016356.4:c.922+53_922+64del | NP_057440.2:n.922+53_922+64del | |
NM_016356.5:c.922+53_922+64del MANE Select | NP_057440.2:n.922+53_922+64del | |
NM_001195610.2:c.922+53_922+64del | NP_001182539.1:n.922+53_922+64del |