Canonical Allele Identifier: CA550723010

Gene: WDR19

Linked Data

• ClinVar Variation Id: 2102299
• ClinVar RCV Id: RCV003037654
• dbSNP Id: rs1334092486
• gnomAD v2: 4-39206866-C-CAACAT
• gnomAD v4: 4-39205246-C-CAACAT
• MyVariant Identifiers: chr4:g.39206866_39206867insAACAT (hg19) ; chr4:g.39205246_39205247insAACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205247_39205251dup , CM000666.2:g.39205247_39205251dup	GRCh38
NC_000004.11:g.39206867_39206871dup , CM000666.1:g.39206867_39206871dup	GRCh37
NC_000004.10:g.38883262_38883266dup	NCBI36
NG_031813.1:g.27844_27848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.697_701dup MANE Select	ENSP00000382717.3:p.Val235ThrfsTer14
ENST00000399820.7:c.697_701dup	ENSP00000382717.3:p.Val235ThrfsTer14
ENST00000503697.5:c.*165_*169dup	ENSP00000423706.1:n.*165_*169dup
ENST00000505055.5:c.*278_*282dup	ENSP00000425949.1:n.*278_*282dup
ENST00000506503.1:c.697_701dup	ENSP00000423491.1:p.Val235ThrfsTer14
ENST00000506869.5:c.*278_*282dup	ENSP00000424319.1:n.*278_*282dup
ENST00000511729.5:n.40+22684_40+22688dup
ENST00000512448.1:n.291_295dup
NM_025132.3:c.697_701dup	NP_079408.3:p.Val235ThrfsTer14
XM_011513724.1:c.697_701dup	XP_011512026.1:p.Val235ThrfsTer14
XM_011513725.1:c.631_635dup	XP_011512027.1:p.Val213ThrfsTer14
XM_011513726.1:c.217_221dup	XP_011512028.1:p.Val75ThrfsTer14
XM_011513727.1:c.217_221dup	XP_011512029.1:p.Val75ThrfsTer14
XM_011513728.1:c.217_221dup	XP_011512030.1:p.Val75ThrfsTer14
XM_011513729.1:c.697_701dup	XP_011512031.1:p.Val235ThrfsTer14
XR_925155.1:n.761_765dup
NM_001317924.1:c.217_221dup	NP_001304853.1:p.Val75ThrfsTer14
XM_011513725.2:c.631_635dup	XP_011512027.1:p.Val213ThrfsTer14
XM_011513726.3:c.217_221dup	XP_011512028.1:p.Val75ThrfsTer14
XM_017008501.1:c.217_221dup	XP_016863990.1:p.Val75ThrfsTer14
XR_001741306.1:n.761_765dup
XR_001741307.1:n.761_765dup
XR_001741308.1:n.761_765dup
XR_001741309.1:n.761_765dup
XR_001741310.1:n.761_765dup
XR_001741311.2:n.610_614dup
XR_001741312.1:n.761_765dup
NM_025132.4:c.697_701dup MANE Select	NP_079408.3:p.Val235ThrfsTer14
NM_001317924.2:c.217_221dup	NP_001304853.1:p.Val75ThrfsTer14