Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749878dup , CM000677.2:g.74749878dup | GRCh38 |
| NC_000015.9:g.75042219dup , CM000677.1:g.75042219dup | GRCh37 |
| NC_000015.8:g.72829272dup | NCBI36 |
| NG_008431.1:g.32337dup | |
| NG_008431.2:g.32337dup | |
| NG_061543.1:g.6034dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.140dup MANE Select | ENSP00000342007.4:p.Trp48LeufsTer? | |
| ENST00000343932.4:c.140dup | ENSP00000342007.4:p.Trp48LeufsTer? | |
| NM_000761.4:c.140dup | NP_000752.2:p.Trp48LeufsTer? | |
| NM_000761.5:c.140dup MANE Select | NP_000752.2:p.Trp48LeufsTer? |