HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926046_3926049dup , CM000681.2:g.3926046_3926049dup | GRCh38 |
NC_000019.9:g.3926044_3926047dup , CM000681.1:g.3926044_3926047dup | GRCh37 |
NC_000019.8:g.3877044_3877047dup | NCBI36 |
NG_012638.1:g.50427_50430dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450849.7:c.*1454_*1457dup MANE Select | ENSP00000390941.1:n.*1454_*1457dup | |
ENST00000450849.6:c.*1454_*1457dup | ENSP00000390941.1:n.*1454_*1457dup | |
ENST00000600960.1:c.2634_2637dup | ENSP00000470842.1:n.2634_2637dup | |
ENST00000601323.1:n.440-212_440-209dup | ||
NM_033064.4:c.*1454_*1457dup | NP_149053.1:n.*1454_*1457dup | |
NM_033064.5:c.*1454_*1457dup MANE Select | NP_149053.1:n.*1454_*1457dup |