Canonical Allele Identifier: CA698971267

Gene: NEK5 ALG11

Linked Data

• dbSNP Id: rs1193027089
• MyVariant Identifiers: chr13:g.52609284_52609285insTATT (hg19) ; chr13:g.52035148_52035149insTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52035151_52035154dup , CM000675.2:g.52035151_52035154dup	GRCh38
NC_000013.10:g.52609287_52609290dup , CM000675.1:g.52609287_52609290dup	GRCh37
NC_000013.9:g.51507288_51507291dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647945.2:c.*1796_*1799dup (NEK5)	ENSP00000497892.1:n.*1796_*1799dup
ENST00000684899.1:c.*1796_*1799dup (NEK5) MANE Select	ENSP00000509632.1:n.*1796_*1799dup
ENST00000649708.2:c.275+16008_275+16011dup (ALG11)	ENSP00000497459.2:n.275+16008_275+16011dup
ENST00000652502.1:n.3958_3961dup (NEK5)
ENST00000679495.1:n.44+22689_44+22692dup (ALG11)
ENST00000529080.5:n.2499_2502dup (NEK5)
NM_001365552.1:c.*1796_*1799dup (NEK5) MANE Select	NP_001352481.1:n.*1796_*1799dup