Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24952867_24952869del , CM000670.2:g.24952867_24952869del | GRCh38 |
| NC_000008.10:g.24810380_24810382del , CM000670.1:g.24810380_24810382del | GRCh37 |
| NC_000008.9:g.24866297_24866299del | NCBI36 |
| NG_008492.1:g.8755_8757del , LRG_259:g.8755_8757del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1579_1581del MANE Select | NP_006149.2:p.Glu527del |
| ENST00000610854.2:c.1579_1581del MANE Select | ENSP00000482169.2:p.Glu527del |
| NM_006158.4:c.1579_1581del , LRG_259t1:c.1579_1581del | NP_006149.2:p.Glu527del |
| ENST00000610854.1:c.1579_1581del | ENSP00000482169.1:p.Glu527del |
| ENST00000619417.1:c.*444_*446del | ENSP00000483690.1:n.*444_*446del |