Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536251_42536252del , CM000679.2:g.42536251_42536252del | GRCh38 |
| NC_000017.10:g.40688269_40688270del , CM000679.1:g.40688269_40688270del | GRCh37 |
| NC_000017.9:g.37941795_37941796del | NCBI36 |
| NG_011552.1:g.5319_5320del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.-22_-21del MANE Select | ENSP00000225927.1:n.-22_-21del | |
| ENST00000225927.6:c.-22_-21del | ENSP00000225927.1:n.-22_-21del | |
| NM_000263.3:c.-22_-21del | NP_000254.2:n.-22_-21del | |
| XM_024450771.1:c.-22_-21del | XP_024306539.1:n.-22_-21del | |
| NM_000263.4:c.-22_-21del MANE Select | NP_000254.2:n.-22_-21del |