Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179557027del , CM000663.2:g.179557027del | GRCh38 |
| NC_000001.10:g.179526162del , CM000663.1:g.179526162del | GRCh37 |
| NC_000001.9:g.177792785del | NCBI36 |
| NG_007535.1:g.23924del , LRG_887:g.23924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.738+1del | ||
| ENST00000367615.8:c.738+1del | ||
| ENST00000367616.4:c.535-2495del | ENSP00000356588.4:n.535-2495del | |
| NM_001297575.1:c.535-2495del | NP_001284504.1:n.535-2495del | |
| NM_014625.3:c.738+1del , LRG_887t1:c.738+1del | ||
| XM_005245483.2:c.561+1del | ||
| XM_006711529.2:c.738+1del | ||
| XM_005245483.3:c.561+1del | ||
| XM_017002298.1:c.461+2653del | XP_016857787.1:n.461+2653del | |
| XM_017002299.1:c.534+2653del | XP_016857788.1:n.534+2653del | |
| NM_001297575.2:c.535-2495del | NP_001284504.1:n.535-2495del | |
| NM_014625.4:c.738+1del |