HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270374dup , CM000668.2:g.31270374dup | GRCh38 |
NC_000006.11:g.31238151dup , CM000668.1:g.31238151dup | GRCh37 |
NC_000006.10:g.31346130dup | NCBI36 |
NG_029422.2:g.6758dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.731dup MANE Select | ENSP00000365402.5:p.Asp244GlufsTer? | |
ENST00000376228.9:c.731dup | ENSP00000365402.5:p.Asp244GlufsTer? | |
ENST00000376237.8:c.*318dup | ENSP00000365412.4:n.*318dup | |
ENST00000383329.7:c.731dup | ENSP00000372819.3:p.Asp244GlufsTer? | |
ENST00000415537.1:c.665-43dup | ||
ENST00000470363.5:n.49dup | ||
ENST00000487245.5:n.1090dup | ||
ENST00000495835.1:n.920dup | ||
NM_002117.5:c.731dup | NP_002108.4:p.Asp244GlufsTer? | |
NM_002117.6:c.731dup MANE Select | NP_002108.4:p.Asp244GlufsTer? |