Canonical Allele Identifier: CA2761112824

Gene: WDR19

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205692_39205693del , CM000666.2:g.39205692_39205693del	GRCh38
NC_000004.11:g.39207312_39207313del , CM000666.1:g.39207312_39207313del	GRCh37
NC_000004.10:g.38883707_38883708del	NCBI36
NG_031813.1:g.28289_28290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.846_847del MANE Select	ENSP00000382717.3:p.Val283IlefsTer5
ENST00000399820.7:c.846_847del	ENSP00000382717.3:p.Val283IlefsTer5
ENST00000503697.5:c.*314_*315del	ENSP00000423706.1:n.*314_*315del
ENST00000506503.1:c.846_847del	ENSP00000423491.1:p.Val283IlefsTer5
ENST00000506869.5:c.*427_*428del	ENSP00000424319.1:n.*427_*428del
ENST00000511729.5:n.41-22866_41-22865del
ENST00000512448.1:n.440_441del
NM_025132.3:c.846_847del	NP_079408.3:p.Val283IlefsTer5
XM_011513724.1:c.846_847del	XP_011512026.1:p.Val283IlefsTer5
XM_011513725.1:c.780_781del	XP_011512027.1:p.Val261IlefsTer5
XM_011513726.1:c.366_367del	XP_011512028.1:p.Val123IlefsTer5
XM_011513727.1:c.366_367del	XP_011512029.1:p.Val123IlefsTer5
XM_011513728.1:c.366_367del	XP_011512030.1:p.Val123IlefsTer5
XM_011513729.1:c.846_847del	XP_011512031.1:p.Val283IlefsTer5
XR_925155.1:n.910_911del
NM_001317924.1:c.366_367del	NP_001304853.1:p.Val123IlefsTer5
XM_011513725.2:c.780_781del	XP_011512027.1:p.Val261IlefsTer5
XM_011513726.3:c.366_367del	XP_011512028.1:p.Val123IlefsTer5
XM_017008501.1:c.366_367del	XP_016863990.1:p.Val123IlefsTer5
XR_001741306.1:n.910_911del
XR_001741307.1:n.910_911del
XR_001741308.1:n.910_911del
XR_001741309.1:n.910_911del
XR_001741310.1:n.910_911del
XR_001741311.2:n.759_760del
XR_001741312.1:n.910_911del
NM_025132.4:c.846_847del MANE Select	NP_079408.3:p.Val283IlefsTer5
NM_001317924.2:c.366_367del	NP_001304853.1:p.Val123IlefsTer5