Canonical Allele Identifier: CA1018606308

Gene: DOK5

Linked Data

• dbSNP Id: rs1979659831
• gnomAD v3: 20-54650768-G-GAAA
• gnomAD v4: 20-54650768-G-GAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650769_54650770insAAA , CM000682.2:g.54650769_54650770insAAA	GRCh38
NC_000020.10:g.53267308_53267309insAAA , CM000682.1:g.53267308_53267309insAAA	GRCh37
NC_000020.9:g.52700715_52700716insAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*290_*291insAAA MANE Select	ENSP00000262593.5:n.*290_*291insAAA
ENST00000262593.9:c.*290_*291insAAA	ENSP00000262593.5:n.*290_*291insAAA
ENST00000395939.5:c.*290_*291insAAA	ENSP00000379270.1:n.*290_*291insAAA
NM_018431.4:c.*290_*291insAAA	NP_060901.2:n.*290_*291insAAA
NM_177959.2:c.*290_*291insAAA	NP_808874.1:n.*290_*291insAAA
XM_011528903.1:c.*290_*291insAAA	XP_011527205.1:n.*290_*291insAAA
XM_011528904.1:c.*290_*291insAAA	XP_011527206.1:n.*290_*291insAAA
XM_024451946.1:c.*290_*291insAAA	XP_024307714.1:n.*290_*291insAAA
NM_018431.5:c.*290_*291insAAA MANE Select	NP_060901.2:n.*290_*291insAAA
NM_177959.3:c.*290_*291insAAA	NP_808874.1:n.*290_*291insAAA