Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401290_1401320del , CM000681.2:g.1401290_1401320del | GRCh38 |
| NC_000019.9:g.1401289_1401319del , CM000681.1:g.1401289_1401319del | GRCh37 |
| NC_000019.8:g.1352289_1352319del | NCBI36 |
| NG_009785.1:g.5235_5265del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.158_181+7del | ||
| ENST00000447102.8:c.158_181+7del | ||
| ENST00000640762.1:c.112+46_112+76del | ENSP00000492031.1:n.112+46_112+76del | |
| ENST00000252288.6:c.158_181+7del | ||
| ENST00000447102.7:c.158_181+7del | ||
| NM_000156.5:c.158_181+7del | ||
| NM_138924.2:c.158_181+7del | ||
| NM_000156.6:c.158_181+7del | ||
| NM_138924.3:c.158_181+7del |