Canonical Allele Identifier: CA1018606331

Gene: DOK5

Linked Data

• dbSNP Id: rs1979660839
• gnomAD v3: 20-54650785-ACTTCTCTG-A
• gnomAD v4: 20-54650785-ACTTCTCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650786_54650793del , CM000682.2:g.54650786_54650793del	GRCh38
NC_000020.10:g.53267325_53267332del , CM000682.1:g.53267325_53267332del	GRCh37
NC_000020.9:g.52700732_52700739del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*307_*314del MANE Select	ENSP00000262593.5:n.*307_*314del
ENST00000262593.9:c.*307_*314del	ENSP00000262593.5:n.*307_*314del
ENST00000395939.5:c.*307_*314del	ENSP00000379270.1:n.*307_*314del
NM_018431.4:c.*307_*314del	NP_060901.2:n.*307_*314del
NM_177959.2:c.*307_*314del	NP_808874.1:n.*307_*314del
XM_011528903.1:c.*307_*314del	XP_011527205.1:n.*307_*314del
XM_011528904.1:c.*307_*314del	XP_011527206.1:n.*307_*314del
XM_024451946.1:c.*307_*314del	XP_024307714.1:n.*307_*314del
NM_018431.5:c.*307_*314del MANE Select	NP_060901.2:n.*307_*314del
NM_177959.3:c.*307_*314del	NP_808874.1:n.*307_*314del