Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31326550del , CM000680.2:g.31326550del | GRCh38 |
| NC_000018.9:g.28906513del , CM000680.1:g.28906513del | GRCh37 |
| NC_000018.8:g.27160511del | NCBI36 |
| NG_011803.2:g.13462del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.49-31del MANE Select | ENSP00000257192.4:n.49-31del | |
| ENST00000257192.4:c.49-31del | ENSP00000257192.4:n.49-31del | |
| NM_001942.3:c.49-31del | NP_001933.2:n.49-31del | |
| NM_001942.4:c.49-31del MANE Select | NP_001933.2:n.49-31del |