Canonical Allele Identifier: CA636385530

Gene: DOK5

Linked Data

• dbSNP Id: rs1383124556
• gnomAD v2: 20-53267388-ACAGT-A
• gnomAD v3: 20-54650849-ACAGT-A
• gnomAD v4: 20-54650849-ACAGT-A
• MyVariant Identifiers: chr20:g.53267389_53267392del (hg19) ; chr20:g.54650850_54650853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650854_54650857del , CM000682.2:g.54650854_54650857del	GRCh38
NC_000020.10:g.53267393_53267396del , CM000682.1:g.53267393_53267396del	GRCh37
NC_000020.9:g.52700800_52700803del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*375_*378del MANE Select	ENSP00000262593.5:n.*375_*378del
ENST00000262593.9:c.*375_*378del	ENSP00000262593.5:n.*375_*378del
ENST00000395939.5:c.*375_*378del	ENSP00000379270.1:n.*375_*378del
NM_018431.4:c.*375_*378del	NP_060901.2:n.*375_*378del
NM_177959.2:c.*375_*378del	NP_808874.1:n.*375_*378del
XM_011528903.1:c.*375_*378del	XP_011527205.1:n.*375_*378del
XM_011528904.1:c.*375_*378del	XP_011527206.1:n.*375_*378del
XM_024451946.1:c.*375_*378del	XP_024307714.1:n.*375_*378del
NM_018431.5:c.*375_*378del MANE Select	NP_060901.2:n.*375_*378del
NM_177959.3:c.*375_*378del	NP_808874.1:n.*375_*378del