Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152690_80152701del , CM000677.2:g.80152690_80152701del | GRCh38 |
| NC_000015.9:g.80445032_80445043del , CM000677.1:g.80445032_80445043del | GRCh37 |
| NC_000015.8:g.78232087_78232098del | NCBI36 |
| NG_012833.1:g.4692_4703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+145_-30+156del | ENSP00000453152.1:n.-30+145_-30+156del |