Genomic Alleles
| 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 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.3147dup MANE Select | NP_005553.2:p.Lys1050GlufsTer3 |
| ENST00000264144.5:c.3147dup MANE Select | ENSP00000264144.4:p.Lys1050GlufsTer3 |
| NM_005562.2:c.3147dup | NP_005553.2:p.Lys1050GlufsTer3 |
| NM_018891.2:c.3147dup | NP_061486.2:p.Lys1050GlufsTer3 |
| NM_018891.3:c.3147dup | NP_061486.2:p.Lys1050GlufsTer3 |
| ENST00000264144.4:c.3147dup | ENSP00000264144.4:p.Lys1050GlufsTer3 |
| ENST00000461729.1:n.617dup | |
| ENST00000493293.5:c.3147dup | ENSP00000432063.1:p.Lys1050GlufsTer3 |