Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132560_42132574del , CM000684.2:g.42132560_42132574del | GRCh38 |
| NG_008376.3:g.2420_2434del | |
| NG_008376.4:g.3239_3253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.18_32del | ||
| XM_011529967.1:c.-1045-736_-1045-722del | XP_011528269.1:n.-1045-736_-1045-722del |