HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538850_133538852dup , CM000672.2:g.133538850_133538852dup | GRCh38 |
NC_000010.10:g.135352354_135352356dup , CM000672.1:g.135352354_135352356dup | GRCh37 |
NC_000010.9:g.135202344_135202346dup | NCBI36 |
NG_008383.1:g.16488_16490dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1368_1370dup MANE Select | ENSP00000252945.3:p.Gln456_His457insGln | |
ENST00000252945.7:c.1368_1370dup | ENSP00000252945.3:p.Gln456_His457insGln | |
ENST00000368520.1:n.1358+958_1358+960dup | ||
ENST00000463117.6:c.1368_1370dup | ENSP00000440689.1:p.Gln456_His457insGln | |
ENST00000469258.1:n.464_466dup | ||
NM_000773.3:c.1368_1370dup | NP_000764.1:p.Gln456_His457insGln | |
NM_000773.4:c.1368_1370dup MANE Select | NP_000764.1:p.Gln456_His457insGln |