Canonical Allele Identifier: CA914278071

Gene: DOK6

Linked Data

• dbSNP Id: rs1568312171
• gnomAD v2: 18-67283082-G-GTA
• gnomAD v3: 18-69615846-G-GTA
• gnomAD v4: 18-69615846-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.69615847_69615848insAT , CM000680.2:g.69615847_69615848insAT	GRCh38
NC_000018.9:g.67283083_67283084insAT , CM000680.1:g.67283083_67283084insAT	GRCh37
NC_000018.8:g.65434063_65434064insAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000382713.10:c.289+16349_289+16350insAT MANE Select	ENSP00000372160.5:n.289+16349_289+16350insAT
ENST00000382713.9:c.289+16349_289+16350insAT	ENSP00000372160.5:n.289+16349_289+16350insAT
NM_152721.5:c.289+16349_289+16350insAT	NP_689934.2:n.289+16349_289+16350insAT
XM_011525873.1:c.289+16349_289+16350insAT	XP_011524175.1:n.289+16349_289+16350insAT
XM_011525874.1:c.289+16349_289+16350insAT	XP_011524176.1:n.289+16349_289+16350insAT
XM_011525875.1:c.289+16349_289+16350insAT	XP_011524177.1:n.289+16349_289+16350insAT
XM_011525875.2:c.289+16349_289+16350insAT	XP_011524177.1:n.289+16349_289+16350insAT
NM_152721.6:c.289+16349_289+16350insAT MANE Select	NP_689934.2:n.289+16349_289+16350insAT