Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500330_45500333del , CM000663.2:g.45500330_45500333del | GRCh38 |
| NC_000001.10:g.45966002_45966005del , CM000663.1:g.45966002_45966005del | GRCh37 |
| NC_000001.9:g.45738589_45738592del | NCBI36 |
| NG_013378.1:g.5147_5150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.-3_1del | ||
| ENST00000401061.8:c.-3_1del | ||
| NM_015506.2:c.-3_1del | ||
| XM_005270724.3:c.-3_1del | ||
| XM_011541204.1:c.-225_-222del | XP_011539506.1:n.-225_-222del | |
| NM_001330540.1:c.-225_-222del | NP_001317469.1:n.-225_-222del | |
| XM_005270724.5:c.-3_1del | ||
| NM_015506.3:c.-3_1del | ||
| NM_001330540.2:c.-225_-222del | NP_001317469.1:n.-225_-222del |