Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432215_229432219del , CM000663.2:g.229432215_229432219del | GRCh38 |
| NC_000001.10:g.229567962_229567966del , CM000663.1:g.229567962_229567966del | GRCh37 |
| NC_000001.9:g.227634585_227634589del | NCBI36 |
| NG_006672.1:g.6879_6883del , LRG_429:g.6879_6883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.617-33_617-29del | ENSP00000355644.4:n.617-33_617-29del | |
| ENST00000684723.1:c.482-33_482-29del | ENSP00000508084.1:n.482-33_482-29del | |
| ENST00000366683.3:c.479+189_479+193del | ENSP00000355644.3:n.479+189_479+193del | |
| ENST00000366684.7:c.617-33_617-29del MANE Select | ENSP00000355645.3:n.617-33_617-29del | |
| NM_001100.3:c.617-33_617-29del , LRG_429t1:c.617-33_617-29del | NP_001091.1:n.617-33_617-29del | |
| NM_001100.4:c.617-33_617-29del MANE Select | NP_001091.1:n.617-33_617-29del |