Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152585_80152588del , CM000677.2:g.80152585_80152588del | GRCh38 |
| NC_000015.9:g.80444927_80444930del , CM000677.1:g.80444927_80444930del | GRCh37 |
| NC_000015.8:g.78231982_78231985del | NCBI36 |
| NG_012833.1:g.4587_4590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+40_-30+43del | ENSP00000453152.1:n.-30+40_-30+43del |