HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183240117dup , CM000663.2:g.183240117dup | GRCh38 |
NC_000001.10:g.183209252dup , CM000663.1:g.183209252dup | GRCh37 |
NC_000001.9:g.181475875dup | NCBI36 |
NG_007079.2:g.58854dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264144.5:c.3147dup MANE Select | ENSP00000264144.4:p.Lys1050GlufsTer3 | |
ENST00000264144.4:c.3147dup | ENSP00000264144.4:p.Lys1050GlufsTer3 | |
ENST00000461729.1:n.617dup | ||
ENST00000493293.5:c.3147dup | ENSP00000432063.1:p.Lys1050GlufsTer3 | |
NM_005562.2:c.3147dup | NP_005553.2:p.Lys1050GlufsTer3 | |
NM_018891.2:c.3147dup | NP_061486.2:p.Lys1050GlufsTer3 | |
NM_005562.3:c.3147dup MANE Select | NP_005553.2:p.Lys1050GlufsTer3 | |
NM_018891.3:c.3147dup | NP_061486.2:p.Lys1050GlufsTer3 |