Canonical Allele Identifier: CA525628913

Gene: DDX20

Linked Data

• dbSNP Id: rs1557924361
• gnomAD v2: 1-112309124-G-GT
• gnomAD v4: 1-111766502-G-GT
• MyVariant Identifiers: chr1:g.112309124_112309125insT (hg19) ; chr1:g.111766502_111766503insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766503dup , CM000663.2:g.111766503dup	GRCh38
NC_000001.10:g.112309125dup , CM000663.1:g.112309125dup	GRCh37
NC_000001.9:g.112110648dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369702.5:c.2079dup MANE Select	ENSP00000358716.4:p.Ile694TyrfsTer11
ENST00000533164.6:c.*1493dup	ENSP00000434085.1:n.*1493dup
ENST00000534200.2:n.3814dup
ENST00000679381.1:n.2701dup
ENST00000679498.1:n.3937dup
ENST00000679576.1:c.2414dup	ENSP00000506357.1:n.2414dup
ENST00000679724.1:c.2079dup	ENSP00000505857.1:p.Ile694TyrfsTer11
ENST00000679774.1:n.3704dup
ENST00000680038.1:n.3071dup
ENST00000680317.1:n.2427dup
ENST00000680383.1:c.*958dup	ENSP00000505119.1:n.*958dup
ENST00000680415.1:n.3410dup
ENST00000680518.1:c.*805dup	ENSP00000506543.1:n.*805dup
ENST00000680627.1:c.2079dup	ENSP00000505758.1:p.Ile694TyrfsTer11
ENST00000680936.1:c.*1307dup	ENSP00000506651.1:n.*1307dup
ENST00000680983.1:n.1948dup
ENST00000681529.1:n.2801dup
ENST00000681559.1:c.*1256dup	ENSP00000506100.1:n.*1256dup
ENST00000681747.1:n.3079dup
ENST00000369702.4:c.2079dup	ENSP00000358716.4:p.Ile694TyrfsTer11
ENST00000475700.1:c.903dup	ENSP00000435660.1:p.Ile302TyrfsTer11
NM_007204.4:c.2079dup	NP_009135.4:p.Ile694TyrfsTer11
NM_007204.5:c.2079dup MANE Select	NP_009135.4:p.Ile694TyrfsTer11