Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152625_80152637del , CM000677.2:g.80152625_80152637del | GRCh38 |
| NC_000015.9:g.80444967_80444979del , CM000677.1:g.80444967_80444979del | GRCh37 |
| NC_000015.8:g.78232022_78232034del | NCBI36 |
| NG_012833.1:g.4627_4639del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+80_-30+92del | ENSP00000453152.1:n.-30+80_-30+92del |