HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271225del , CM000668.2:g.31271225del | GRCh38 |
NC_000006.11:g.31239002del , CM000668.1:g.31239002del | GRCh37 |
NC_000006.10:g.31346981del | NCBI36 |
NG_029422.2:g.5908del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.468del MANE Select | ENSP00000365402.5:p.Trp157GlyfsTer24 | |
ENST00000376228.9:c.468del | ENSP00000365402.5:p.Trp157GlyfsTer24 | |
ENST00000376237.8:c.*55del | ENSP00000365412.4:n.*55del | |
ENST00000383329.7:c.468del | ENSP00000372819.3:p.Trp157GlyfsTer24 | |
ENST00000415537.1:c.466del | ||
ENST00000484378.1:n.737del | ||
ENST00000487245.5:n.827del | ||
ENST00000495835.1:n.657del | ||
NM_002117.5:c.468del | NP_002108.4:p.Trp157GlyfsTer24 | |
NM_002117.6:c.468del MANE Select | NP_002108.4:p.Trp157GlyfsTer24 |