Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583278_41583280del , CM000679.2:g.41583278_41583280del | GRCh38 |
| NC_000017.10:g.39739530_39739532del , CM000679.1:g.39739530_39739532del | GRCh37 |
| NC_000017.9:g.36993056_36993058del | NCBI36 |
| NG_008624.1:g.8618_8620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1231_1233del MANE Select | ENSP00000167586.6:p.Glu411del | |
| ENST00000167586.6:c.1231_1233del | ENSP00000167586.6:p.Glu411del | |
| ENST00000441550.2:n.178_180del | ||
| ENST00000476662.1:n.681_683del | ||
| NM_000526.4:c.1231_1233del | NP_000517.2:p.Glu411del | |
| NM_000526.5:c.1231_1233del MANE Select | NP_000517.3:p.Glu411del |