Canonical Allele Identifier: CA636385527

Gene: DOK5

Linked Data

• dbSNP Id: rs1159748538
• gnomAD v2: 20-53267337-TG-T
• gnomAD v3: 20-54650798-TG-T
• gnomAD v4: 20-54650798-TG-T
• MyVariant Identifiers: chr20:g.53267338del (hg19) ; chr20:g.54650799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650799del , CM000682.2:g.54650799del	GRCh38
NC_000020.10:g.53267338del , CM000682.1:g.53267338del	GRCh37
NC_000020.9:g.52700745del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*320del MANE Select	ENSP00000262593.5:n.*320del
ENST00000262593.9:c.*320del	ENSP00000262593.5:n.*320del
ENST00000395939.5:c.*320del	ENSP00000379270.1:n.*320del
NM_018431.4:c.*320del	NP_060901.2:n.*320del
NM_177959.2:c.*320del	NP_808874.1:n.*320del
XM_011528903.1:c.*320del	XP_011527205.1:n.*320del
XM_011528904.1:c.*320del	XP_011527206.1:n.*320del
XM_024451946.1:c.*320del	XP_024307714.1:n.*320del
NM_018431.5:c.*320del MANE Select	NP_060901.2:n.*320del
NM_177959.3:c.*320del	NP_808874.1:n.*320del