Canonical Allele Identifier: CA2573137690
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446760
ClinVar RCV Id: RCV001987849
dbSNP Id: rs2109299952

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205182dup , CM000666.2:g.39205182dup GRCh38
NC_000004.11:g.39206802dup , CM000666.1:g.39206802dup GRCh37
NC_000004.10:g.38883197dup NCBI36
NG_031813.1:g.27779dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.632dup MANE Select ENSP00000382717.3:p.Leu211PhefsTer8
ENST00000399820.7:c.632dup ENSP00000382717.3:p.Leu211PhefsTer8
ENST00000503697.5:c.*100dup ENSP00000423706.1:n.*100dup
ENST00000505055.5:c.*213dup ENSP00000425949.1:n.*213dup
ENST00000506503.1:c.632dup ENSP00000423491.1:p.Leu211PhefsTer8
ENST00000506869.5:c.*213dup ENSP00000424319.1:n.*213dup
ENST00000511729.5:n.40+22619dup
ENST00000512448.1:n.226dup
NM_025132.3:c.632dup NP_079408.3:p.Leu211PhefsTer8
XM_011513724.1:c.632dup XP_011512026.1:p.Leu211PhefsTer8
XM_011513725.1:c.566dup XP_011512027.1:p.Leu189PhefsTer8
XM_011513726.1:c.152dup XP_011512028.1:p.Leu51PhefsTer8
XM_011513727.1:c.152dup XP_011512029.1:p.Leu51PhefsTer8
XM_011513728.1:c.152dup XP_011512030.1:p.Leu51PhefsTer8
XM_011513729.1:c.632dup XP_011512031.1:p.Leu211PhefsTer8
XR_925155.1:n.696dup
NM_001317924.1:c.152dup NP_001304853.1:p.Leu51PhefsTer8
XM_011513725.2:c.566dup XP_011512027.1:p.Leu189PhefsTer8
XM_011513726.3:c.152dup XP_011512028.1:p.Leu51PhefsTer8
XM_017008501.1:c.152dup XP_016863990.1:p.Leu51PhefsTer8
XR_001741306.1:n.696dup
XR_001741307.1:n.696dup
XR_001741308.1:n.696dup
XR_001741309.1:n.696dup
XR_001741310.1:n.696dup
XR_001741311.2:n.545dup
XR_001741312.1:n.696dup
NM_025132.4:c.632dup MANE Select NP_079408.3:p.Leu211PhefsTer8
NM_001317924.2:c.152dup NP_001304853.1:p.Leu51PhefsTer8