HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271288del , CM000668.2:g.31271288del | GRCh38 |
NC_000006.11:g.31239065del , CM000668.1:g.31239065del | GRCh37 |
NC_000006.10:g.31347044del | NCBI36 |
NG_029422.2:g.5844del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.404del MANE Select | ENSP00000365402.5:p.Arg135ProfsTer16 | |
ENST00000376228.9:c.404del | ENSP00000365402.5:p.Arg135ProfsTer16 | |
ENST00000376237.8:c.387del | ENSP00000365412.4:p.Arg130GlyfsTer? | |
ENST00000383329.7:c.404del | ENSP00000372819.3:p.Arg135ProfsTer16 | |
ENST00000415537.1:c.402del | ||
ENST00000484378.1:n.673del | ||
ENST00000487245.5:n.763del | ||
ENST00000495835.1:n.593del | ||
NM_002117.5:c.404del | NP_002108.4:p.Arg135ProfsTer16 | |
NM_002117.6:c.404del MANE Select | NP_002108.4:p.Arg135ProfsTer16 |