HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24290520_24290521dup , CM000668.2:g.24290520_24290521dup | GRCh38 |
NC_000006.11:g.24290748_24290749dup , CM000668.1:g.24290748_24290749dup | GRCh37 |
NC_000006.10:g.24398727_24398728dup | NCBI36 |
NG_012829.1:g.72534_72535dup | |
NG_012829.2:g.97774_97775dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.704+413_704+414dup MANE Select | ENSP00000367715.3:n.704+413_704+414dup | |
ENST00000378454.7:c.704+413_704+414dup | ENSP00000367715.3:n.704+413_704+414dup | |
NM_001195610.1:c.704+413_704+414dup | NP_001182539.1:n.704+413_704+414dup | |
NM_016356.4:c.704+413_704+414dup | NP_057440.2:n.704+413_704+414dup | |
NM_016356.5:c.704+413_704+414dup MANE Select | NP_057440.2:n.704+413_704+414dup | |
NM_001195610.2:c.704+413_704+414dup | NP_001182539.1:n.704+413_704+414dup |