Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673827_10673830del , CM000682.2:g.10673827_10673830del | GRCh38 |
| NC_000020.10:g.10654475_10654478del , CM000682.1:g.10654475_10654478del | GRCh37 |
| NC_000020.9:g.10602475_10602478del | NCBI36 |
| NG_007496.1:g.5219_5222del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-298_-295del MANE Select | ENSP00000254958.4:n.-298_-295del | |
| ENST00000254958.9:c.-298_-295del | ENSP00000254958.4:n.-298_-295del | |
| NM_000214.2:c.-298_-295del | NP_000205.1:n.-298_-295del | |
| NM_000214.3:c.-298_-295del MANE Select | NP_000205.1:n.-298_-295del |