HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31058462dup , CM000670.2:g.31058462dup | GRCh38 |
NC_000008.10:g.30915978dup , CM000670.1:g.30915978dup | GRCh37 |
NC_000008.9:g.31035520dup | NCBI36 |
NG_008870.1:g.30201dup , LRG_524:g.30201dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.15dup MANE Select | ENSP00000298139.5:p.Leu6IlefsTer12 | |
ENST00000650667.1:c.15dup | ENSP00000498593.1:p.Leu6IlefsTer12 | |
ENST00000298139.5:c.15dup | ENSP00000298139.5:p.Leu6IlefsTer12 | |
NM_000553.4:c.15dup , LRG_524t1:c.15dup | NP_000544.2:p.Leu6IlefsTer12 | |
XM_011544639.1:c.15dup | XP_011542941.1:p.Leu6IlefsTer12 | |
XR_949470.1:n.288dup | ||
XR_949471.1:n.288dup | ||
XR_949472.1:n.288dup | ||
NM_000553.5:c.15dup | NP_000544.2:p.Leu6IlefsTer12 | |
XM_011544639.3:c.15dup | XP_011542941.1:p.Leu6IlefsTer12 | |
XM_024447265.1:c.-320dup | XP_024303033.1:n.-320dup | |
XR_949470.3:n.316dup | ||
XR_949471.3:n.316dup | ||
XR_949472.3:n.316dup | ||
NM_000553.6:c.15dup MANE Select | NP_000544.2:p.Leu6IlefsTer12 |