HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115768342dup , CM000663.2:g.115768342dup | GRCh38 |
NC_000001.10:g.116310963dup , CM000663.1:g.116310963dup | GRCh37 |
NC_000001.9:g.116112486dup | NCBI36 |
NG_008802.1:g.5468dup , LRG_404:g.5468dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.-73dup | ENSP00000518226.1:n.-73dup | |
ENST00000261448.6:c.204dup MANE Select | ENSP00000261448.5:p.Gln69ThrfsTer10 | |
ENST00000261448.5:c.204dup | ENSP00000261448.5:p.Gln69ThrfsTer10 | |
NM_001232.3:c.204dup , LRG_404t1:c.204dup | NP_001223.2:p.Gln69ThrfsTer10 | |
NM_001232.4:c.204dup MANE Select | NP_001223.2:p.Gln69ThrfsTer10 |