Linked Data
dbSNP Id:
rs1331223184
gnomAD v3:
13-52035077-G-GAATT
gnomAD v4:
13-52035077-G-GAATT
MyVariant Identifiers:
chr13:g.52609213_52609214insAATT (hg19)
chr13:g.52035077_52035078insAATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035081_52035084dup , CM000675.2:g.52035081_52035084dup | GRCh38 |
| NC_000013.10:g.52609217_52609220dup , CM000675.1:g.52609217_52609220dup | GRCh37 |
| NC_000013.9:g.51507218_51507221dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647945.2:c.*1867_*1870dup (NEK5) | ENSP00000497892.1:n.*1867_*1870dup | |
| ENST00000684899.1:c.*1867_*1870dup (NEK5) MANE Select | ENSP00000509632.1:n.*1867_*1870dup | |
| ENST00000649708.2:c.275+15938_275+15941dup (ALG11) | ENSP00000497459.2:n.275+15938_275+15941du... | |
| ENST00000652502.1:n.4029_4032dup (NEK5) | ||
| ENST00000679495.1:n.44+22619_44+22622dup (ALG11) | ||
| ENST00000529080.5:n.2570_2573dup (NEK5) | ||
| NM_001365552.1:c.*1867_*1870dup (NEK5) MANE Select | NP_001352481.1:n.*1867_*1870dup |