Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878920del , CM000674.2:g.32878920del | GRCh38 |
| NC_000012.11:g.33031854del , CM000674.1:g.33031854del | GRCh37 |
| NC_000012.10:g.32923121del | NCBI36 |
| NG_009000.1:g.22928del , LRG_398:g.22928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.336+1del | ||
| ENST00000700563.2:c.336+1del | ||
| ENST00000700563.1:c.290+1del | ||
| ENST00000700564.1:n.340+1del | ||
| ENST00000700565.1:n.189+1del | ||
| ENST00000070846.11:c.336+1del | ||
| ENST00000340811.9:c.336+1del | ||
| ENST00000070846.10:c.336+1del | ||
| ENST00000340811.8:c.336+1del | ||
| ENST00000613243.1:c.336+1del | ||
| NM_001005242.2:c.336+1del | ||
| NM_004572.3:c.336+1del , LRG_398t1:c.336+1del | ||
| NM_001005242.3:c.336+1del | ||
| NM_004572.4:c.336+1del |