HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323067_159323068delinsTA , CM000667.2:g.159323067_159323068delinsTA | GRCh38 |
NC_000005.9:g.158750075_158750076delinsTA , CM000667.1:g.158750075_158750076delinsTA | GRCh37 |
NC_000005.8:g.158682653_158682654delinsTA | NCBI36 |
NG_009618.1:g.12406_12407delinsTA , LRG_71:g.12406_12407delinsTA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2548_-148-2547delinsTA | ENSP00000512849.1:n.-148-2548_-148-2547delinsTA | |
ENST00000696751.1:c.350_351delinsTA | ENSP00000512850.1:p.Leu117= | |
ENST00000231228.3:c.350_351delinsTA MANE Select | ENSP00000231228.2:p.Leu117= | |
ENST00000231228.2:c.350_351delinsTA | ENSP00000231228.2:p.Leu117= | |
NM_002187.2:c.350_351delinsTA , LRG_71t1:c.350_351delinsTA | NP_002178.2:p.Leu117= | |
XR_001742945.1:n.148-2467_148-2466delinsTA | ||
NM_002187.3:c.350_351delinsTA MANE Select | NP_002178.2:p.Leu117= |