HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270401del , CM000668.2:g.31270401del | GRCh38 |
NC_000006.11:g.31238178del , CM000668.1:g.31238178del | GRCh37 |
NC_000006.10:g.31346157del | NCBI36 |
NG_029422.2:g.6731del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.704del MANE Select | ENSP00000365402.5:p.Ala235GlyfsTer5 | |
ENST00000376228.9:c.704del | ENSP00000365402.5:p.Ala235GlyfsTer5 | |
ENST00000376237.8:c.*291del | ENSP00000365412.4:n.*291del | |
ENST00000383329.7:c.704del | ENSP00000372819.3:p.Ala235GlyfsTer5 | |
ENST00000415537.1:c.664+38del | ||
ENST00000470363.5:n.22del | ||
ENST00000487245.5:n.1063del | ||
ENST00000495835.1:n.893del | ||
NM_002117.5:c.704del | NP_002108.4:p.Ala235GlyfsTer5 | |
NM_002117.6:c.704del MANE Select | NP_002108.4:p.Ala235GlyfsTer5 |