Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754840dup , CM000677.2:g.74754840dup | GRCh38 |
| NC_000015.9:g.75047181dup , CM000677.1:g.75047181dup | GRCh37 |
| NC_000015.8:g.72834234dup | NCBI36 |
| NG_008431.1:g.37299dup | |
| NG_008431.2:g.37299dup | |
| NG_061543.1:g.10996dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1303dup MANE Select | ENSP00000342007.4:p.Ala435GlyfsTer7 | |
| ENST00000343932.4:c.1303dup | ENSP00000342007.4:p.Ala435GlyfsTer7 | |
| NM_000761.4:c.1303dup | NP_000752.2:p.Ala435GlyfsTer7 | |
| NM_000761.5:c.1303dup MANE Select | NP_000752.2:p.Ala435GlyfsTer7 |