Canonical Allele Identifier: CA2091591543

Linked Data

dbSNP Id: rs1778290257

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035123dup , CM000675.2:g.52035123dup GRCh38
NC_000013.10:g.52609259dup , CM000675.1:g.52609259dup GRCh37
NC_000013.9:g.51507260dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1825dup (NEK5) ENSP00000497892.1:n.*1825dup
ENST00000684899.1:c.*1825dup (NEK5) MANE Select ENSP00000509632.1:n.*1825dup
ENST00000649708.2:c.275+15980dup (ALG11) ENSP00000497459.2:n.275+15980dup
ENST00000652502.1:n.3987dup (NEK5)
ENST00000679495.1:n.44+22661dup (ALG11)
ENST00000529080.5:n.2528dup (NEK5)
NM_001365552.1:c.*1825dup (NEK5) MANE Select NP_001352481.1:n.*1825dup