HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159322289del , CM000667.2:g.159322289del | GRCh38 |
NC_000005.9:g.158749297del , CM000667.1:g.158749297del | GRCh37 |
NC_000005.8:g.158681875del | NCBI36 |
NG_009618.1:g.13185del , LRG_71:g.13185del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-1769del | ENSP00000512849.1:n.-148-1769del | |
ENST00000696751.1:c.364+765del | ENSP00000512850.1:n.364+765del | |
ENST00000231228.3:c.482+105del MANE Select | ENSP00000231228.2:n.482+105del | |
ENST00000231228.2:c.482+105del | ENSP00000231228.2:n.482+105del | |
NM_002187.2:c.482+105del , LRG_71t1:c.482+105del | NP_002178.2:n.482+105del | |
XR_001742945.1:n.147+1693del | ||
NM_002187.3:c.482+105del MANE Select | NP_002178.2:n.482+105del |