Linked Data
dbSNP Id:
rs1954347738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035042_52035045del , CM000675.2:g.52035042_52035045del | GRCh38 |
| NC_000013.10:g.52609178_52609181del , CM000675.1:g.52609178_52609181del | GRCh37 |
| NC_000013.9:g.51507179_51507182del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647945.2:c.*1907_*1910del (NEK5) | ENSP00000497892.1:n.*1907_*1910del | |
| ENST00000684899.1:c.*1907_*1910del (NEK5) MANE Select | ENSP00000509632.1:n.*1907_*1910del | |
| ENST00000649708.2:c.275+15899_275+15902del (ALG11) | ENSP00000497459.2:n.275+15899_275+15902del | |
| ENST00000652502.1:n.4069_4072del (NEK5) | ||
| ENST00000679495.1:n.44+22580_44+22583del (ALG11) | ||
| ENST00000529080.5:n.2610_2613del (NEK5) | ||
| NM_001365552.1:c.*1907_*1910del (NEK5) MANE Select | NP_001352481.1:n.*1907_*1910del |