Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8081189_8087296del , CM000679.2:g.8081189_8087296del | GRCh38 |
| NC_000017.10:g.7984507_7990614del , CM000679.1:g.7984507_7990614del | GRCh37 |
| NC_000017.9:g.7925232_7931339del | NCBI36 |
| NG_007099.1:g.5410_11517del | |
| NG_007099.2:g.5423_11530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.147+2_353del | ||
| ENST00000319144.4:c.147+2_353del | ||
| NM_001139.2:c.147+2_353del | ||
| NM_001139.3:c.147+2_353del |