Canonical Allele Identifier: CA745649747

Gene: DOK5

Linked Data

• dbSNP Id: rs1357191874
• gnomAD v4: 20-54650402-C-CT
• MyVariant Identifiers: chr20:g.53266941_53266942insT (hg19) ; chr20:g.54650402_54650403insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650407dup , CM000682.2:g.54650407dup	GRCh38
NC_000020.10:g.53266946dup , CM000682.1:g.53266946dup	GRCh37
NC_000020.9:g.52700353dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.857-8dup MANE Select	ENSP00000262593.5:n.857-8dup
ENST00000262593.9:c.857-8dup	ENSP00000262593.5:n.857-8dup
ENST00000395939.5:c.533-8dup	ENSP00000379270.1:n.533-8dup
NM_018431.4:c.857-8dup	NP_060901.2:n.857-8dup
NM_177959.2:c.533-8dup	NP_808874.1:n.533-8dup
XM_011528903.1:c.821-8dup	XP_011527205.1:n.821-8dup
XM_011528904.1:c.533-8dup	XP_011527206.1:n.533-8dup
XM_024451946.1:c.821-8dup	XP_024307714.1:n.821-8dup
NM_018431.5:c.857-8dup MANE Select	NP_060901.2:n.857-8dup
NM_177959.3:c.533-8dup	NP_808874.1:n.533-8dup