HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323071del , CM000667.2:g.159323071del | GRCh38 |
NC_000005.9:g.158750079del , CM000667.1:g.158750079del | GRCh37 |
NC_000005.8:g.158682657del | NCBI36 |
NG_009618.1:g.12406del , LRG_71:g.12406del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2548del | ENSP00000512849.1:n.-148-2548del | |
ENST00000696751.1:c.350del | ENSP00000512850.1:p.Leu117Ter | |
ENST00000231228.3:c.350del MANE Select | ENSP00000231228.2:p.Leu117Ter | |
ENST00000231228.2:c.350del | ENSP00000231228.2:p.Leu117Ter | |
NM_002187.2:c.350del , LRG_71t1:c.350del | NP_002178.2:p.Leu117Ter | |
XR_001742945.1:n.148-2463del | ||
NM_002187.3:c.350del MANE Select | NP_002178.2:p.Leu117Ter |