Canonical Allele Identifier: CA698971236
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs1322303844
gnomAD v3: 13-52035088-A-ACTC
gnomAD v4: 13-52035088-A-ACTC
MyVariant Identifiers: chr13:g.52609224_52609225insCTC (hg19) chr13:g.52035088_52035089insCTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035090_52035092dup , CM000675.2:g.52035090_52035092dup GRCh38
NC_000013.10:g.52609226_52609228dup , CM000675.1:g.52609226_52609228dup GRCh37
NC_000013.9:g.51507227_51507229dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1857_*1859dup (NEK5) ENSP00000497892.1:n.*1857_*1859dup
ENST00000684899.1:c.*1857_*1859dup (NEK5) MANE Select ENSP00000509632.1:n.*1857_*1859dup
ENST00000649708.2:c.275+15947_275+15949dup (ALG11) ENSP00000497459.2:n.275+15947_275+15949dup
ENST00000652502.1:n.4019_4021dup (NEK5)
ENST00000679495.1:n.44+22628_44+22630dup (ALG11)
ENST00000529080.5:n.2560_2562dup (NEK5)
NM_001365552.1:c.*1857_*1859dup (NEK5) MANE Select NP_001352481.1:n.*1857_*1859dup
Search 100 bp 5'
Search 100 bp 3'