Canonical Allele Identifier: CA302639738

Gene: DOK6

Linked Data

• dbSNP Id: rs755271837
• gnomAD v2: 18-67283239-CAT-C
• gnomAD v3: 18-69616003-CAT-C
• gnomAD v4: 18-69616003-CAT-C
• MyVariant Identifiers: chr18:g.67283240_67283241del (hg19) ; chr18:g.69616004_69616005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.69616006_69616007del , CM000680.2:g.69616006_69616007del	GRCh38
NC_000018.9:g.67283242_67283243del , CM000680.1:g.67283242_67283243del	GRCh37
NC_000018.8:g.65434222_65434223del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382713.10:c.289+16508_289+16509del MANE Select	ENSP00000372160.5:n.289+16508_289+16509del
ENST00000382713.9:c.289+16508_289+16509del	ENSP00000372160.5:n.289+16508_289+16509del
NM_152721.5:c.289+16508_289+16509del	NP_689934.2:n.289+16508_289+16509del
XM_011525873.1:c.289+16508_289+16509del	XP_011524175.1:n.289+16508_289+16509del
XM_011525874.1:c.289+16508_289+16509del	XP_011524176.1:n.289+16508_289+16509del
XM_011525875.1:c.289+16508_289+16509del	XP_011524177.1:n.289+16508_289+16509del
XM_011525875.2:c.289+16508_289+16509del	XP_011524177.1:n.289+16508_289+16509del
NM_152721.6:c.289+16508_289+16509del MANE Select	NP_689934.2:n.289+16508_289+16509del