HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320460del , CM000667.2:g.159320460del | GRCh38 |
NC_000005.9:g.158747468del , CM000667.1:g.158747468del | GRCh37 |
NC_000005.8:g.158680046del | NCBI36 |
NG_009618.1:g.15014del , LRG_71:g.15014del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-88del | ENSP00000512849.1:n.-88del | |
ENST00000696751.1:c.*38del | ENSP00000512850.1:n.*38del | |
ENST00000231228.3:c.543del MANE Select | ENSP00000231228.2:p.Asp183ThrfsTer? | |
ENST00000231228.2:c.543del | ENSP00000231228.2:p.Asp183ThrfsTer? | |
NM_002187.2:c.543del , LRG_71t1:c.543del | NP_002178.2:p.Asp183ThrfsTer? | |
XR_001742945.1:n.11del | ||
NM_002187.3:c.543del MANE Select | NP_002178.2:p.Asp183ThrfsTer? |