Canonical Allele Identifier: CA781922585

Gene: DOK6

Linked Data

• dbSNP Id: rs1331821751
• gnomAD v3: 18-69615772-CAA-C
• gnomAD v4: 18-69615772-CAA-C
• MyVariant Identifiers: chr18:g.67283009_67283010del (hg19) ; chr18:g.69615773_69615774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.69615774_69615775del , CM000680.2:g.69615774_69615775del	GRCh38
NC_000018.9:g.67283010_67283011del , CM000680.1:g.67283010_67283011del	GRCh37
NC_000018.8:g.65433990_65433991del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000382713.10:c.289+16276_289+16277del MANE Select	ENSP00000372160.5:n.289+16276_289+16277del
ENST00000382713.9:c.289+16276_289+16277del	ENSP00000372160.5:n.289+16276_289+16277del
NM_152721.5:c.289+16276_289+16277del	NP_689934.2:n.289+16276_289+16277del
XM_011525873.1:c.289+16276_289+16277del	XP_011524175.1:n.289+16276_289+16277del
XM_011525874.1:c.289+16276_289+16277del	XP_011524176.1:n.289+16276_289+16277del
XM_011525875.1:c.289+16276_289+16277del	XP_011524177.1:n.289+16276_289+16277del
XM_011525875.2:c.289+16276_289+16277del	XP_011524177.1:n.289+16276_289+16277del
NM_152721.6:c.289+16276_289+16277del MANE Select	NP_689934.2:n.289+16276_289+16277del