Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123572_72123575del , CM000679.2:g.72123572_72123575del | GRCh38 |
| NC_000017.10:g.70119713_70119716del , CM000679.1:g.70119713_70119716del | GRCh37 |
| NC_000017.9:g.67631308_67631311del | NCBI36 |
| NG_012490.1:g.7553_7556del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.715_718del MANE Select | ENSP00000245479.2:p.Thr239ProfsTer13 | |
| ENST00000245479.2:c.715_718del | ENSP00000245479.2:p.Thr239ProfsTer13 | |
| NM_000346.3:c.715_718del | NP_000337.1:p.Thr239ProfsTer13 | |
| NM_000346.4:c.715_718del MANE Select | NP_000337.1:p.Thr239ProfsTer13 |