Canonical Allele Identifier: CA745650014

Gene: DOK5

Linked Data

• dbSNP Id: rs1455940602
• gnomAD v3: 20-54650655-C-CT
• gnomAD v4: 20-54650655-C-CT
• MyVariant Identifiers: chr20:g.53267194_53267195insT (hg19) ; chr20:g.54650655_54650656insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650661dup , CM000682.2:g.54650661dup	GRCh38
NC_000020.10:g.53267200dup , CM000682.1:g.53267200dup	GRCh37
NC_000020.9:g.52700607dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*182dup MANE Select	ENSP00000262593.5:n.*182dup
ENST00000262593.9:c.*182dup	ENSP00000262593.5:n.*182dup
ENST00000395939.5:c.*182dup	ENSP00000379270.1:n.*182dup
NM_018431.4:c.*182dup	NP_060901.2:n.*182dup
NM_177959.2:c.*182dup	NP_808874.1:n.*182dup
XM_011528903.1:c.*182dup	XP_011527205.1:n.*182dup
XM_011528904.1:c.*182dup	XP_011527206.1:n.*182dup
XM_024451946.1:c.*182dup	XP_024307714.1:n.*182dup
NM_018431.5:c.*182dup MANE Select	NP_060901.2:n.*182dup
NM_177959.3:c.*182dup	NP_808874.1:n.*182dup