Canonical Allele Identifier: CA2761112825

Gene: WDR19

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205706_39205708del , CM000666.2:g.39205706_39205708del	GRCh38
NC_000004.11:g.39207326_39207328del , CM000666.1:g.39207326_39207328del	GRCh37
NC_000004.10:g.38883721_38883723del	NCBI36
NG_031813.1:g.28303_28305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.860_862del MANE Select	ENSP00000382717.3:p.Leu287_Asn288delinsHis
ENST00000399820.7:c.860_862del	ENSP00000382717.3:p.Leu287_Asn288delinsHis
ENST00000503697.5:c.*328_*330del	ENSP00000423706.1:n.*328_*330del
ENST00000506503.1:c.860_862del	ENSP00000423491.1:p.Leu287_Asn288delinsHis
ENST00000506869.5:c.*441_*443del	ENSP00000424319.1:n.*441_*443del
ENST00000511729.5:n.41-22852_41-22850del
ENST00000512448.1:n.454_456del
NM_025132.3:c.860_862del	NP_079408.3:p.Leu287_Asn288delinsHis
XM_011513724.1:c.860_862del	XP_011512026.1:p.Leu287_Asn288delinsHis
XM_011513725.1:c.794_796del	XP_011512027.1:p.Leu265_Asn266delinsHis
XM_011513726.1:c.380_382del	XP_011512028.1:p.Leu127_Asn128delinsHis
XM_011513727.1:c.380_382del	XP_011512029.1:p.Leu127_Asn128delinsHis
XM_011513728.1:c.380_382del	XP_011512030.1:p.Leu127_Asn128delinsHis
XM_011513729.1:c.860_862del	XP_011512031.1:p.Leu287_Asn288delinsHis
XR_925155.1:n.924_926del
NM_001317924.1:c.380_382del	NP_001304853.1:p.Leu127_Asn128delinsHis
XM_011513725.2:c.794_796del	XP_011512027.1:p.Leu265_Asn266delinsHis
XM_011513726.3:c.380_382del	XP_011512028.1:p.Leu127_Asn128delinsHis
XM_017008501.1:c.380_382del	XP_016863990.1:p.Leu127_Asn128delinsHis
XR_001741306.1:n.924_926del
XR_001741307.1:n.924_926del
XR_001741308.1:n.924_926del
XR_001741309.1:n.924_926del
XR_001741310.1:n.924_926del
XR_001741311.2:n.773_775del
XR_001741312.1:n.924_926del
NM_025132.4:c.860_862del MANE Select	NP_079408.3:p.Leu287_Asn288delinsHis
NM_001317924.2:c.380_382del	NP_001304853.1:p.Leu127_Asn128delinsHis