HGVS | Genome Assembly |
---|---|
NC_000003.12:g.183124160_183124161del , CM000665.2:g.183124160_183124161del | GRCh38 |
NC_000003.11:g.182841948_182841949del , CM000665.1:g.182841948_182841949del | GRCh37 |
NC_000003.10:g.184324642_184324643del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265598.8:c.1172_1173del MANE Select | ENSP00000265598.3:p.Val391GlyfsTer12 | |
ENST00000265598.7:c.1172_1173del | ENSP00000265598.3:p.Val391GlyfsTer12 | |
ENST00000466939.1:c.1100_1101del | ENSP00000418912.1:p.Val367GlyfsTer12 | |
NM_014398.3:c.1172_1173del | NP_055213.2:p.Val391GlyfsTer12 | |
XR_924123.1:n.1338_1339del | ||
NM_014398.4:c.1172_1173del MANE Select | NP_055213.2:p.Val391GlyfsTer12 |