Canonical Allele Identifier: CA1018606334

Gene: DOK5

Linked Data

• dbSNP Id: rs1979661430
• gnomAD v3: 20-54650794-A-AAGT
• gnomAD v4: 20-54650794-A-AAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650795_54650796insGTA , CM000682.2:g.54650795_54650796insGTA	GRCh38
NC_000020.10:g.53267334_53267335insGTA , CM000682.1:g.53267334_53267335insGTA	GRCh37
NC_000020.9:g.52700741_52700742insGTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*316_*317insGTA MANE Select	ENSP00000262593.5:n.*316_*317insGTA
ENST00000262593.9:c.*316_*317insGTA	ENSP00000262593.5:n.*316_*317insGTA
ENST00000395939.5:c.*316_*317insGTA	ENSP00000379270.1:n.*316_*317insGTA
NM_018431.4:c.*316_*317insGTA	NP_060901.2:n.*316_*317insGTA
NM_177959.2:c.*316_*317insGTA	NP_808874.1:n.*316_*317insGTA
XM_011528903.1:c.*316_*317insGTA	XP_011527205.1:n.*316_*317insGTA
XM_011528904.1:c.*316_*317insGTA	XP_011527206.1:n.*316_*317insGTA
XM_024451946.1:c.*316_*317insGTA	XP_024307714.1:n.*316_*317insGTA
NM_018431.5:c.*316_*317insGTA MANE Select	NP_060901.2:n.*316_*317insGTA
NM_177959.3:c.*316_*317insGTA	NP_808874.1:n.*316_*317insGTA