Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725519dup , CM000685.2:g.153725519dup | GRCh38 |
| NC_000023.10:g.152990974dup , CM000685.1:g.152990974dup | GRCh37 |
| NC_000023.9:g.152644168dup | NCBI36 |
| NG_009022.2:g.5652dup | |
| NG_023231.1:g.4232dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.253dup MANE Select | NP_000024.2:p.Arg85ProfsTer? |
| ENST00000218104.6:c.253dup MANE Select | ENSP00000218104.3:p.Arg85ProfsTer? |
| NM_000033.3:c.253dup | NP_000024.2:p.Arg85ProfsTer? |
| ENST00000218104.5:c.253dup | ENSP00000218104.3:p.Arg85ProfsTer? |
| XR_938507.1:n.669dup | |
| XR_938507.2:n.669dup |