Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168493972_168493980del , CM000667.2:g.168493972_168493980del | GRCh38 |
| NC_000005.9:g.167920977_167920985del , CM000667.1:g.167920977_167920985del | GRCh37 |
| NC_000005.8:g.167853555_167853563del | NCBI36 |
| NG_041809.1:g.12515_12523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231572.8:c.448_456del MANE Select | ENSP00000231572.3:p.Cys150_Glu152del | |
| ENST00000231572.7:c.448_456del | ENSP00000231572.3:p.Cys150_Glu152del | |
| ENST00000519346.1:n.313_321del | ||
| ENST00000520013.5:c.370-578_370-570del | ENSP00000429030.1:n.370-578_370-570del | |
| ENST00000521939.5:n.461_469del | ||
| ENST00000522834.5:c.*50_*58del | ENSP00000430035.1:n.*50_*58del | |
| NM_002887.3:c.448_456del | NP_002878.2:p.Cys150_Glu152del | |
| NM_002887.4:c.448_456del MANE Select | NP_002878.2:p.Cys150_Glu152del |