Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909551_173909552del , CM000663.2:g.173909551_173909552del | GRCh38 |
| NC_000001.10:g.173878689_173878690del , CM000663.1:g.173878689_173878690del | GRCh37 |
| NC_000001.9:g.172145312_172145313del | NCBI36 |
| NG_012462.1:g.12827_12828del , LRG_577:g.12827_12828del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1153_1153+1del | ||
| ENST00000367698.3:c.1153_1153+1del | ||
| ENST00000617423.4:c.560-2059_560-2058del | ENSP00000478688.1:n.560-2059_560-2058del | |
| NM_000488.3:c.1153_1153+1del , LRG_577t1:c.1153_1153+1del | ||
| XM_005245198.2:c.1009_1009+1del | ||
| NM_001365052.1:c.1009_1009+1del | ||
| NM_000488.4:c.1153_1153+1del | ||
| NM_001365052.2:c.1009_1009+1del | ||
| NM_001386302.1:c.1276_1276+1del | ||
| NM_001386303.1:c.1234_1234+1del | ||
| NM_001386304.1:c.1132_1132+1del | ||
| NM_001386305.1:c.1096_1096+1del | ||
| NM_001386306.1:c.937_937+1del |