Canonical Allele Identifier: CA2091591481

Gene: NEK5 ALG11

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52035037_52035041delinsGTAAA , CM000675.2:g.52035037_52035041delinsGTAAA	GRCh38
NC_000013.10:g.52609173_52609177delinsGTAAA , CM000675.1:g.52609173_52609177delinsGTAAA	GRCh37
NC_000013.9:g.51507174_51507178delinsGTAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647945.2:c.*1907_*1911delinsTTTAC (NEK5)	ENSP00000497892.1:n.*1907_*1911delinsTTTAC
ENST00000684899.1:c.*1907_*1911delinsTTTAC (NEK5) MANE Select	ENSP00000509632.1:n.*1907_*1911delinsTTTAC
ENST00000649708.2:c.275+15894_275+15898delinsGTAAA (ALG11)	ENSP00000497459.2:n.275+15894_275+15898delinsGTAAA
ENST00000652502.1:n.4069_4073delinsTTTAC (NEK5)
ENST00000679495.1:n.44+22575_44+22579delinsGTAAA (ALG11)
ENST00000529080.5:n.2610_2614delinsTTTAC (NEK5)
NM_001365552.1:c.*1907_*1911delinsTTTAC (NEK5) MANE Select	NP_001352481.1:n.*1907_*1911delinsTTTAC