Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035145del , CM000675.2:g.52035145del | GRCh38 |
| NC_000013.10:g.52609281del , CM000675.1:g.52609281del | GRCh37 |
| NC_000013.9:g.51507282del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647945.2:c.*1806del (NEK5) | ENSP00000497892.1:n.*1806del | |
| ENST00000684899.1:c.*1806del (NEK5) MANE Select | ENSP00000509632.1:n.*1806del | |
| ENST00000649708.2:c.275+16002del (ALG11) | ENSP00000497459.2:n.275+16002del | |
| ENST00000652502.1:n.3968del (NEK5) | ||
| ENST00000679495.1:n.44+22683del (ALG11) | ||
| ENST00000529080.5:n.2509del (NEK5) | ||
| NM_001365552.1:c.*1806del (NEK5) MANE Select | NP_001352481.1:n.*1806del |