Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673824del , CM000682.2:g.10673824del | GRCh38 |
| NC_000020.10:g.10654472del , CM000682.1:g.10654472del | GRCh37 |
| NC_000020.9:g.10602472del | NCBI36 |
| NG_007496.1:g.5226del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-291del MANE Select | ENSP00000254958.4:n.-291del | |
| ENST00000254958.9:c.-291del | ENSP00000254958.4:n.-291del | |
| NM_000214.2:c.-291del | NP_000205.1:n.-291del | |
| NM_000214.3:c.-291del MANE Select | NP_000205.1:n.-291del |