HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146339921_146339924del , CM000667.2:g.146339921_146339924del | GRCh38 |
NC_000005.9:g.145719484_145719487del , CM000667.1:g.145719484_145719487del | GRCh37 |
NC_000005.8:g.145699677_145699680del | NCBI36 |
NG_011885.1:g.5898_5901del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.494_497del MANE Select | ENSP00000495718.1:p.His165ProfsTer? | |
ENST00000230732.4:c.494_497del | ENSP00000230732.4:p.His165ProfsTer? | |
NM_002700.2:c.494_497del | NP_002691.1:p.His165ProfsTer? | |
NM_002700.3:c.494_497del MANE Select | NP_002691.1:p.His165ProfsTer? |