Canonical Allele Identifier: CA2091591535

Linked Data

dbSNP Id: rs1954348683

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035115_52035117dup , CM000675.2:g.52035115_52035117dup GRCh38
NC_000013.10:g.52609251_52609253dup , CM000675.1:g.52609251_52609253dup GRCh37
NC_000013.9:g.51507252_51507254dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1832_*1834dup (NEK5) ENSP00000497892.1:n.*1832_*1834dup
ENST00000684899.1:c.*1832_*1834dup (NEK5) MANE Select ENSP00000509632.1:n.*1832_*1834dup
ENST00000649708.2:c.275+15972_275+15974dup (ALG11) ENSP00000497459.2:n.275+15972_275+15974dup
ENST00000652502.1:n.3994_3996dup (NEK5)
ENST00000679495.1:n.44+22653_44+22655dup (ALG11)
ENST00000529080.5:n.2535_2537dup (NEK5)
NM_001365552.1:c.*1832_*1834dup (NEK5) MANE Select NP_001352481.1:n.*1832_*1834dup