HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24348002_24348006dup , CM000668.2:g.24348002_24348006dup | GRCh38 |
NC_000006.11:g.24348230_24348234dup , CM000668.1:g.24348230_24348234dup | GRCh37 |
NC_000006.10:g.24456209_24456213dup | NCBI36 |
NG_012829.1:g.15047_15051dup | |
NG_012829.2:g.40287_40291dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.348+5563_348+5567dup MANE Select | ENSP00000367715.3:n.348+5563_348+5567dup | |
ENST00000378454.7:c.348+5563_348+5567dup | ENSP00000367715.3:n.348+5563_348+5567dup | |
NM_001195610.1:c.348+5563_348+5567dup | NP_001182539.1:n.348+5563_348+5567dup | |
NM_016356.4:c.348+5563_348+5567dup | NP_057440.2:n.348+5563_348+5567dup | |
NM_016356.5:c.348+5563_348+5567dup MANE Select | NP_057440.2:n.348+5563_348+5567dup | |
NM_001195610.2:c.348+5563_348+5567dup | NP_001182539.1:n.348+5563_348+5567dup |