HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24278029_24278033del , CM000668.2:g.24278029_24278033del | GRCh38 |
NC_000006.11:g.24278257_24278261del , CM000668.1:g.24278257_24278261del | GRCh37 |
NC_000006.10:g.24386236_24386240del | NCBI36 |
NG_012829.1:g.85023_85027del | |
NG_012829.2:g.110263_110267del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.922+19_922+23del MANE Select | ENSP00000367715.3:n.922+19_922+23del | |
ENST00000378454.7:c.922+19_922+23del | ENSP00000367715.3:n.922+19_922+23del | |
NM_001195610.1:c.922+19_922+23del | NP_001182539.1:n.922+19_922+23del | |
NM_016356.4:c.922+19_922+23del | NP_057440.2:n.922+19_922+23del | |
NM_016356.5:c.922+19_922+23del MANE Select | NP_057440.2:n.922+19_922+23del | |
NM_001195610.2:c.922+19_922+23del | NP_001182539.1:n.922+19_922+23del |