Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110325_6110981del , CM000674.2:g.6110325_6110981del | GRCh38 |
| NC_000012.11:g.6219491_6220147del , CM000674.1:g.6219491_6220147del | GRCh37 |
| NC_000012.10:g.6089752_6090408del | NCBI36 |
| NG_009072.1:g.18693_19349del | |
| NG_009072.2:g.18693_19349del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.3:c.221-10_532+52del | |
| NM_000552.4:c.221-10_532+52del | |
| NM_000552.5:c.221-10_532+52del | |
| ENST00000261405.10:c.221-10_532+52del | |
| ENST00000261405.9:c.221-10_532+52del | |
| ENST00000321023.5:c.*280-10_*591+52del | |
| ENST00000538635.5:n.250-10_420+193del |