Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583683_41583688del , CM000679.2:g.41583683_41583688del | GRCh38 |
| NC_000017.10:g.39739935_39739940del , CM000679.1:g.39739935_39739940del | GRCh37 |
| NC_000017.9:g.36993461_36993466del | NCBI36 |
| NG_008624.1:g.8209_8214del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.928-11_928-6del MANE Select | ENSP00000167586.6:n.928-11_928-6del | |
| ENST00000167586.6:c.928-11_928-6del | ENSP00000167586.6:n.928-11_928-6del | |
| ENST00000476662.1:n.378-11_378-6del | ||
| NM_000526.4:c.928-11_928-6del | NP_000517.2:n.928-11_928-6del | |
| NM_000526.5:c.928-11_928-6del MANE Select | NP_000517.3:n.928-11_928-6del |