HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271076dup , CM000668.2:g.31271076dup | GRCh38 |
NC_000006.11:g.31238853dup , CM000668.1:g.31238853dup | GRCh37 |
NC_000006.10:g.31346832dup | NCBI36 |
NG_029422.2:g.6056dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.616dup MANE Select | ENSP00000365402.5:p.Ala206GlyfsTer15 | |
ENST00000376228.9:c.616dup | ENSP00000365402.5:p.Ala206GlyfsTer15 | |
ENST00000376237.8:c.*203dup | ENSP00000365412.4:n.*203dup | |
ENST00000383329.7:c.616dup | ENSP00000372819.3:p.Ala206GlyfsTer15 | |
ENST00000415537.1:c.614dup | ||
ENST00000487245.5:n.975dup | ||
ENST00000495835.1:n.805dup | ||
NM_002117.5:c.616dup | NP_002108.4:p.Ala206GlyfsTer15 | |
NM_002117.6:c.616dup MANE Select | NP_002108.4:p.Ala206GlyfsTer15 |