Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401554_17401562del , CM000663.2:g.17401554_17401562del | GRCh38 |
| NC_000001.10:g.17728050_17728058del , CM000663.1:g.17728050_17728058del | GRCh37 |
| NC_000001.9:g.17600637_17600645del | NCBI36 |
| NG_032943.1:g.34309_34317del | |
| NG_032943.2:g.34309_34317del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*116_*124del MANE Select | ENSP00000483125.1:n.*116_*124del | |
| NM_207421.4:c.*116_*124del MANE Select | NP_997304.3:n.*116_*124del |