Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152684_80152687del , CM000677.2:g.80152684_80152687del | GRCh38 |
| NC_000015.9:g.80445026_80445029del , CM000677.1:g.80445026_80445029del | GRCh37 |
| NC_000015.8:g.78232081_78232084del | NCBI36 |
| NG_012833.1:g.4686_4689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+139_-30+142del | ENSP00000453152.1:n.-30+139_-30+142del |