Canonical Allele Identifier: CA609964207
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs1178275900
gnomAD v2: 13-52609155-T-TCTGAA
gnomAD v3: 13-52035019-T-TCTGAA
gnomAD v4: 13-52035019-T-TCTGAA
MyVariant Identifiers: chr13:g.52609155_52609156insCTGAA (hg19) chr13:g.52035019_52035020insCTGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035022_52035026dup , CM000675.2:g.52035022_52035026dup GRCh38
NC_000013.10:g.52609158_52609162dup , CM000675.1:g.52609158_52609162dup GRCh37
NC_000013.9:g.51507159_51507163dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000647945.2:c.*1924_*1928dup (NEK5) ENSP00000497892.1:n.*1924_*1928dup
ENST00000684899.1:c.*1924_*1928dup (NEK5) MANE Select ENSP00000509632.1:n.*1924_*1928dup
ENST00000649708.2:c.275+15879_275+15883dup (ALG11) ENSP00000497459.2:n.275+15879_275+15883du...
ENST00000652502.1:n.4086_4090dup (NEK5)
ENST00000679495.1:n.44+22560_44+22564dup (ALG11)
ENST00000529080.5:n.2627_2631dup (NEK5)
NM_001365552.1:c.*1924_*1928dup (NEK5) MANE Select NP_001352481.1:n.*1924_*1928dup
Search 100 bp 5'
Search 100 bp 3'