Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121584432del , CM000671.2:g.121584432del | GRCh38 |
| NC_000009.11:g.124346711del , CM000671.1:g.124346711del | GRCh37 |
| NC_000009.10:g.123386532del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259371.7:c.40+17204del | ENSP00000259371.2:n.40+17204del | |
| ENST00000436835.6:c.40+17204del | ENSP00000409327.2:n.40+17204del | |
| ENST00000259371.6:c.40+17204del | ENSP00000259371.2:n.40+17204del | |
| ENST00000394340.7:c.40+17204del | ENSP00000377872.3:n.40+17204del | |
| ENST00000436835.5:c.-115+17204del | ENSP00000409327.1:n.-115+17204del | |
| NM_032552.3:c.40+17204del | NP_115941.2:n.40+17204del | |
| XM_005251721.1:c.40+17204del | XP_005251778.1:n.40+17204del | |
| NM_032552.4:c.40+17204del | NP_115941.2:n.40+17204del |