Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264390_109264391del , CM000663.2:g.109264390_109264391del | GRCh38 |
| NC_000001.10:g.109807012_109807013del , CM000663.1:g.109807012_109807013del | GRCh37 |
| NC_000001.9:g.109608535_109608536del | NCBI36 |
| NG_052669.1:g.19686_19687del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5289+25_5289+26del MANE Select | ENSP00000271332.3:n.5289+25_5289+26del | |
| ENST00000271332.3:c.5289+25_5289+26del | ENSP00000271332.3:n.5289+25_5289+26del | |
| NM_001408.2:c.5289+25_5289+26del | NP_001399.1:n.5289+25_5289+26del | |
| XM_005270580.3:c.5289+25_5289+26del | XP_005270637.1:n.5289+25_5289+26del | |
| NM_001408.3:c.5289+25_5289+26del MANE Select | NP_001399.1:n.5289+25_5289+26del |