Canonical Allele Identifier: CA151405

Gene: WDR19

Linked Data

• ClinVar Variation Id: 127154
• ClinVar RCV Id: RCV000115010 ; RCV001854542 ; RCV002498492
• dbSNP Id: rs587777348
• gnomAD v3: 4-39205183-G-GT
• gnomAD v4: 4-39205183-G-GT
• COSMIC: COSM1429603 ; COSM6036710
• MyVariant Identifiers: chr4:g.39206811dupT (hg19) ; chr4:g.39206804_39206805insT (hg19) ; chr4:g.39206803_39206804insT (hg19) ; chr4:g.39205191dupT (hg38) ; chr4:g.39205183_39205184insT (hg38)
• PubMed: PMID:23559409 ; PMID:23683095

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205191dup , CM000666.2:g.39205191dup	GRCh38
NC_000004.11:g.39206811dup , CM000666.1:g.39206811dup	GRCh37
NC_000004.10:g.38883206dup	NCBI36
NG_031813.1:g.27788dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.641dup MANE Select	ENSP00000382717.3:p.Leu214PhefsTer5
ENST00000399820.7:c.641dup	ENSP00000382717.3:p.Leu214PhefsTer5
ENST00000503697.5:c.*109dup	ENSP00000423706.1:n.*109dup
ENST00000505055.5:c.*222dup	ENSP00000425949.1:n.*222dup
ENST00000506503.1:c.641dup	ENSP00000423491.1:p.Leu214PhefsTer5
ENST00000506869.5:c.*222dup	ENSP00000424319.1:n.*222dup
ENST00000511729.5:n.40+22628dup
ENST00000512448.1:n.235dup
NM_025132.3:c.641dup	NP_079408.3:p.Leu214PhefsTer5
XM_011513724.1:c.641dup	XP_011512026.1:p.Leu214PhefsTer5
XM_011513725.1:c.575dup	XP_011512027.1:p.Leu192PhefsTer5
XM_011513726.1:c.161dup	XP_011512028.1:p.Leu54PhefsTer5
XM_011513727.1:c.161dup	XP_011512029.1:p.Leu54PhefsTer5
XM_011513728.1:c.161dup	XP_011512030.1:p.Leu54PhefsTer5
XM_011513729.1:c.641dup	XP_011512031.1:p.Leu214PhefsTer5
XR_925155.1:n.705dup
NM_001317924.1:c.161dup	NP_001304853.1:p.Leu54PhefsTer5
XM_011513725.2:c.575dup	XP_011512027.1:p.Leu192PhefsTer5
XM_011513726.3:c.161dup	XP_011512028.1:p.Leu54PhefsTer5
XM_017008501.1:c.161dup	XP_016863990.1:p.Leu54PhefsTer5
XR_001741306.1:n.705dup
XR_001741307.1:n.705dup
XR_001741308.1:n.705dup
XR_001741309.1:n.705dup
XR_001741310.1:n.705dup
XR_001741311.2:n.554dup
XR_001741312.1:n.705dup
NM_025132.4:c.641dup MANE Select	NP_079408.3:p.Leu214PhefsTer5
NM_001317924.2:c.161dup	NP_001304853.1:p.Leu54PhefsTer5