Canonical Allele Identifier: CA551140069

Gene: WDR19

Linked Data

• ClinVar Variation Id: 2148838
• ClinVar RCV Id: RCV003063595
• dbSNP Id: rs1340305839
• gnomAD v2: 4-39207277-GC-G
• gnomAD v3: 4-39205657-GC-G
• gnomAD v4: 4-39205657-GC-G
• MyVariant Identifiers: chr4:g.39207278del (hg19) ; chr4:g.39205658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205658del , CM000666.2:g.39205658del	GRCh38
NC_000004.11:g.39207278del , CM000666.1:g.39207278del	GRCh37
NC_000004.10:g.38883673del	NCBI36
NG_031813.1:g.28255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.812del MANE Select	ENSP00000382717.3:p.Ala271ValfsTer8
ENST00000399820.7:c.812del	ENSP00000382717.3:p.Ala271ValfsTer8
ENST00000503697.5:c.*280del	ENSP00000423706.1:n.*280del
ENST00000506503.1:c.812del	ENSP00000423491.1:p.Ala271ValfsTer8
ENST00000506869.5:c.*393del	ENSP00000424319.1:n.*393del
ENST00000511729.5:n.41-22900del
ENST00000512448.1:n.406del
NM_025132.3:c.812del	NP_079408.3:p.Ala271ValfsTer8
XM_011513724.1:c.812del	XP_011512026.1:p.Ala271ValfsTer8
XM_011513725.1:c.746del	XP_011512027.1:p.Ala249ValfsTer8
XM_011513726.1:c.332del	XP_011512028.1:p.Ala111ValfsTer8
XM_011513727.1:c.332del	XP_011512029.1:p.Ala111ValfsTer8
XM_011513728.1:c.332del	XP_011512030.1:p.Ala111ValfsTer8
XM_011513729.1:c.812del	XP_011512031.1:p.Ala271ValfsTer8
XR_925155.1:n.876del
NM_001317924.1:c.332del	NP_001304853.1:p.Ala111ValfsTer8
XM_011513725.2:c.746del	XP_011512027.1:p.Ala249ValfsTer8
XM_011513726.3:c.332del	XP_011512028.1:p.Ala111ValfsTer8
XM_017008501.1:c.332del	XP_016863990.1:p.Ala111ValfsTer8
XR_001741306.1:n.876del
XR_001741307.1:n.876del
XR_001741308.1:n.876del
XR_001741309.1:n.876del
XR_001741310.1:n.876del
XR_001741311.2:n.725del
XR_001741312.1:n.876del
NM_025132.4:c.812del MANE Select	NP_079408.3:p.Ala271ValfsTer8
NM_001317924.2:c.332del	NP_001304853.1:p.Ala111ValfsTer8