Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431923_229431925del , CM000663.2:g.229431923_229431925del | GRCh38 |
| NC_000001.10:g.229567670_229567672del , CM000663.1:g.229567670_229567672del | GRCh37 |
| NC_000001.9:g.227634293_227634295del | NCBI36 |
| NG_006672.1:g.7172_7174del , LRG_429:g.7172_7174del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.809-23_809-21del | ENSP00000355644.4:n.809-23_809-21del | |
| ENST00000684723.1:c.674-23_674-21del | ENSP00000508084.1:n.674-23_674-21del | |
| ENST00000366683.3:c.480-63_480-61del | ENSP00000355644.3:n.480-63_480-61del | |
| ENST00000366684.7:c.809-23_809-21del MANE Select | ENSP00000355645.3:n.809-23_809-21del | |
| NM_001100.3:c.809-23_809-21del , LRG_429t1:c.809-23_809-21del | NP_001091.1:n.809-23_809-21del | |
| NM_001100.4:c.809-23_809-21del MANE Select | NP_001091.1:n.809-23_809-21del |