Canonical Allele Identifier: CA2370487913

Gene: DOK5

Linked Data

• dbSNP Id: rs1979652389
• gnomAD v4: 20-54650619-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650622_54650623del , CM000682.2:g.54650622_54650623del	GRCh38
NC_000020.10:g.53267161_53267162del , CM000682.1:g.53267161_53267162del	GRCh37
NC_000020.9:g.52700568_52700569del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*143_*144del MANE Select	ENSP00000262593.5:n.*143_*144del
ENST00000262593.9:c.*143_*144del	ENSP00000262593.5:n.*143_*144del
ENST00000395939.5:c.*143_*144del	ENSP00000379270.1:n.*143_*144del
NM_018431.4:c.*143_*144del	NP_060901.2:n.*143_*144del
NM_177959.2:c.*143_*144del	NP_808874.1:n.*143_*144del
XM_011528903.1:c.*143_*144del	XP_011527205.1:n.*143_*144del
XM_011528904.1:c.*143_*144del	XP_011527206.1:n.*143_*144del
XM_024451946.1:c.*143_*144del	XP_024307714.1:n.*143_*144del
NM_018431.5:c.*143_*144del MANE Select	NP_060901.2:n.*143_*144del
NM_177959.3:c.*143_*144del	NP_808874.1:n.*143_*144del