Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583679_41583761del , CM000679.2:g.41583679_41583761del | GRCh38 |
| NC_000017.10:g.39739931_39740013del , CM000679.1:g.39739931_39740013del | GRCh37 |
| NC_000017.9:g.36993457_36993539del | NCBI36 |
| NG_008624.1:g.8137_8219del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.927+1_928-1del | ||
| ENST00000167586.6:c.927+1_928-1del | ||
| ENST00000476662.1:n.377+1_378-1del | ||
| NM_000526.4:c.927+1_928-1del | ||
| NM_000526.5:c.927+1_928-1del |