Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446787dup , CM000666.2:g.39446787dup | GRCh38 |
| NC_000004.11:g.39448407dup , CM000666.1:g.39448407dup | GRCh37 |
| NC_000004.10:g.39124802dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2061dup MANE Select | ENSP00000257408.4:p.Trp688LeufsTer8 | |
| ENST00000257408.4:c.2061dup | ENSP00000257408.4:p.Trp688LeufsTer8 | |
| NM_175737.3:c.2061dup | NP_783864.1:p.Trp688LeufsTer8 | |
| XM_005262644.1:c.2034dup | XP_005262701.1:p.Trp679LeufsTer8 | |
| NM_175737.4:c.2061dup MANE Select | NP_783864.1:p.Trp688LeufsTer8 |