Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749872dup , CM000677.2:g.74749872dup | GRCh38 |
| NC_000015.9:g.75042213dup , CM000677.1:g.75042213dup | GRCh37 |
| NC_000015.8:g.72829266dup | NCBI36 |
| NG_008431.1:g.32331dup | |
| NG_008431.2:g.32331dup | |
| NG_061543.1:g.6028dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.134dup MANE Select | ENSP00000342007.4:p.Trp46MetfsTer? | |
| ENST00000343932.4:c.134dup | ENSP00000342007.4:p.Trp46MetfsTer? | |
| NM_000761.4:c.134dup | NP_000752.2:p.Trp46MetfsTer? | |
| NM_000761.5:c.134dup MANE Select | NP_000752.2:p.Trp46MetfsTer? |