Canonical Allele Identifier: CA636385476

Gene: DOK5

Linked Data

• dbSNP Id: rs1461418387
• gnomAD v2: 20-53266990-CTT-C
• MyVariant Identifiers: chr20:g.53266991_53266992del (hg19) ; chr20:g.54650452_54650453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650454_54650455del , CM000682.2:g.54650454_54650455del	GRCh38
NC_000020.10:g.53266993_53266994del , CM000682.1:g.53266993_53266994del	GRCh37
NC_000020.9:g.52700400_52700401del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.896_897del MANE Select	ENSP00000262593.5:p.Phe299SerfsTer6
ENST00000262593.9:c.896_897del	ENSP00000262593.5:p.Phe299SerfsTer6
ENST00000395939.5:c.572_573del	ENSP00000379270.1:p.Phe191SerfsTer6
NM_018431.4:c.896_897del	NP_060901.2:p.Phe299SerfsTer6
NM_177959.2:c.572_573del	NP_808874.1:p.Phe191SerfsTer6
XM_011528903.1:c.860_861del	XP_011527205.1:p.Phe287SerfsTer6
XM_011528904.1:c.572_573del	XP_011527206.1:p.Phe191SerfsTer6
XM_024451946.1:c.860_861del	XP_024307714.1:p.Phe287SerfsTer6
NM_018431.5:c.896_897del MANE Select	NP_060901.2:p.Phe299SerfsTer6
NM_177959.3:c.572_573del	NP_808874.1:p.Phe191SerfsTer6