Canonical Allele Identifier: CA2580070990

Gene: WDR19

Linked Data

• ClinVar Variation Id: 2018099
• ClinVar RCV Id: RCV002830151

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205671_39205676del , CM000666.2:g.39205671_39205676del	GRCh38
NC_000004.11:g.39207291_39207296del , CM000666.1:g.39207291_39207296del	GRCh37
NC_000004.10:g.38883686_38883691del	NCBI36
NG_031813.1:g.28268_28273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.825_830del MANE Select	ENSP00000382717.3:p.Lys275_Asp276del
ENST00000399820.7:c.825_830del	ENSP00000382717.3:p.Lys275_Asp276del
ENST00000503697.5:c.*293_*298del	ENSP00000423706.1:n.*293_*298del
ENST00000506503.1:c.825_830del	ENSP00000423491.1:p.Lys275_Asp276del
ENST00000506869.5:c.*406_*411del	ENSP00000424319.1:n.*406_*411del
ENST00000511729.5:n.41-22887_41-22882del
ENST00000512448.1:n.419_424del
NM_025132.3:c.825_830del	NP_079408.3:p.Lys275_Asp276del
XM_011513724.1:c.825_830del	XP_011512026.1:p.Lys275_Asp276del
XM_011513725.1:c.759_764del	XP_011512027.1:p.Lys253_Asp254del
XM_011513726.1:c.345_350del	XP_011512028.1:p.Lys115_Asp116del
XM_011513727.1:c.345_350del	XP_011512029.1:p.Lys115_Asp116del
XM_011513728.1:c.345_350del	XP_011512030.1:p.Lys115_Asp116del
XM_011513729.1:c.825_830del	XP_011512031.1:p.Lys275_Asp276del
XR_925155.1:n.889_894del
NM_001317924.1:c.345_350del	NP_001304853.1:p.Lys115_Asp116del
XM_011513725.2:c.759_764del	XP_011512027.1:p.Lys253_Asp254del
XM_011513726.3:c.345_350del	XP_011512028.1:p.Lys115_Asp116del
XM_017008501.1:c.345_350del	XP_016863990.1:p.Lys115_Asp116del
XR_001741306.1:n.889_894del
XR_001741307.1:n.889_894del
XR_001741308.1:n.889_894del
XR_001741309.1:n.889_894del
XR_001741310.1:n.889_894del
XR_001741311.2:n.738_743del
XR_001741312.1:n.889_894del
NM_025132.4:c.825_830del MANE Select	NP_079408.3:p.Lys275_Asp276del
NM_001317924.2:c.345_350del	NP_001304853.1:p.Lys115_Asp116del