Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478440_81478442del , CM000670.2:g.81478440_81478442del | GRCh38 |
| NC_000008.10:g.82390675_82390677del , CM000670.1:g.82390675_82390677del | GRCh37 |
| NC_000008.9:g.82553230_82553232del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*425_*427del MANE Select | ENSP00000256104.4:n.*425_*427del | |
| ENST00000256104.4:c.*425_*427del | ENSP00000256104.4:n.*425_*427del | |
| XR_001745980.1:n.514+16466_514+16468del | ||
| NM_001442.3:c.*425_*427del MANE Select | NP_001433.1:n.*425_*427del |