HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271122del , CM000668.2:g.31271122del | GRCh38 |
NC_000006.11:g.31238899del , CM000668.1:g.31238899del | GRCh37 |
NC_000006.10:g.31346878del | NCBI36 |
NG_029422.2:g.6010del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.570del MANE Select | ENSP00000365402.5:p.Glu190AspfsTer24 | |
ENST00000376228.9:c.570del | ENSP00000365402.5:p.Glu190AspfsTer24 | |
ENST00000376237.8:c.*157del | ENSP00000365412.4:n.*157del | |
ENST00000383329.7:c.570del | ENSP00000372819.3:p.Glu190AspfsTer24 | |
ENST00000415537.1:c.568del | ||
ENST00000484378.1:n.839del | ||
ENST00000487245.5:n.929del | ||
ENST00000495835.1:n.759del | ||
NM_002117.5:c.570del | NP_002108.4:p.Glu190AspfsTer24 | |
NM_002117.6:c.570del MANE Select | NP_002108.4:p.Glu190AspfsTer24 |