Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152640_80152643del , CM000677.2:g.80152640_80152643del | GRCh38 |
| NC_000015.9:g.80444982_80444985del , CM000677.1:g.80444982_80444985del | GRCh37 |
| NC_000015.8:g.78232037_78232040del | NCBI36 |
| NG_012833.1:g.4642_4645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+95_-30+98del | ENSP00000453152.1:n.-30+95_-30+98del |