HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519742_52519745del , CM000674.2:g.52519742_52519745del | GRCh38 |
NC_000012.11:g.52913526_52913529del , CM000674.1:g.52913526_52913529del | GRCh37 |
NC_000012.10:g.51199793_51199796del | NCBI36 |
NG_008297.1:g.5715_5718del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252242.9:c.552_555del MANE Select | ENSP00000252242.4:p.Asp184GlufsTer27 | |
ENST00000252242.8:c.552_555del | ENSP00000252242.4:p.Asp184GlufsTer27 | |
ENST00000549420.1:c.222_225del | ENSP00000447209.1:p.Asp74GlufsTer27 | |
ENST00000552629.5:n.650_653del | ||
NM_000424.3:c.552_555del | NP_000415.2:p.Asp184GlufsTer27 | |
NM_000424.4:c.552_555del MANE Select | NP_000415.2:p.Asp184GlufsTer27 |