HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152649149del , CM000669.2:g.152649149del | GRCh38 |
NC_000007.13:g.152346234del , CM000669.1:g.152346234del | GRCh37 |
NC_000007.12:g.151977167del | NCBI36 |
NG_027988.1:g.32019del | |
NG_027988.2:g.32019del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.170del | ENSP00000513758.1:p.Gly57GlufsTer21 | |
ENST00000359321.2:c.338del MANE Select | ENSP00000352271.1:p.Gly113GlufsTer21 | |
ENST00000359321.1:c.338del | ENSP00000352271.1:p.Gly113GlufsTer21 | |
ENST00000495707.1:n.360del | ||
NM_005431.1:c.338del | NP_005422.1:p.Gly113GlufsTer21 | |
NM_005431.2:c.338del MANE Select | NP_005422.1:p.Gly113GlufsTer21 |