HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146339915del , CM000667.2:g.146339915del | GRCh38 |
NC_000005.9:g.145719478del , CM000667.1:g.145719478del | GRCh37 |
NC_000005.8:g.145699671del | NCBI36 |
NG_011885.1:g.5892del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.488del MANE Select | ENSP00000495718.1:p.His163ProfsTer? | |
ENST00000230732.4:c.488del | ENSP00000230732.4:p.His163ProfsTer? | |
NM_002700.2:c.488del | NP_002691.1:p.His163ProfsTer? | |
NM_002700.3:c.488del MANE Select | NP_002691.1:p.His163ProfsTer? |