HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271152del , CM000668.2:g.31271152del | GRCh38 |
NC_000006.11:g.31238929del , CM000668.1:g.31238929del | GRCh37 |
NC_000006.10:g.31346908del | NCBI36 |
NG_029422.2:g.5980del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.540del MANE Select | ENSP00000365402.5:p.Arg181GlufsTer? | |
ENST00000376228.9:c.540del | ENSP00000365402.5:p.Arg181GlufsTer? | |
ENST00000376237.8:c.*127del | ENSP00000365412.4:n.*127del | |
ENST00000383329.7:c.540del | ENSP00000372819.3:p.Arg181GlufsTer? | |
ENST00000415537.1:c.538del | ||
ENST00000484378.1:n.809del | ||
ENST00000487245.5:n.899del | ||
ENST00000495835.1:n.729del | ||
NM_002117.5:c.540del | NP_002108.4:p.Arg181GlufsTer? | |
NM_002117.6:c.540del MANE Select | NP_002108.4:p.Arg181GlufsTer? |