Canonical Allele Identifier: CA10603486

Gene: WDR45

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075607_49075608del , CM000685.2:g.49075607_49075608del	GRCh38
NC_000023.10:g.48933266_48933267del , CM000685.1:g.48933266_48933267del	GRCh37
NC_000023.9:g.48820210_48820211del	NCBI36
NG_033004.1:g.29798_29799del
NG_033004.2:g.30568_30569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.667_668del MANE Select	ENSP00000365551.3:p.Gln223IlefsTer13
ENST00000322995.13:c.700_701del	ENSP00000365543.5:p.Gln234IlefsTer13
ENST00000356463.7:c.670_671del	ENSP00000348848.3:p.Gln224IlefsTer13
ENST00000367375.8:c.446_447del
ENST00000376358.4:c.361_362del	ENSP00000365536.3:p.Gln121IlefsTer13
ENST00000376368.7:c.670_671del	ENSP00000365546.2:p.Gln224IlefsTer13
ENST00000376372.8:c.667_668del	ENSP00000365551.3:p.Gln223IlefsTer13
ENST00000396681.9:c.562_563del	ENSP00000379913.5:p.Gln188IlefsTer13
ENST00000433252.7:n.241_242del
ENST00000465806.6:n.1824_1825del
ENST00000473974.5:c.667_668del	ENSP00000417211.1:p.Gln223IlefsTer13
ENST00000475880.6:c.565_566del	ENSP00000418919.2:p.Gln189IlefsTer13
ENST00000475977.2:c.163_164del	ENSP00000417754.2:p.Gln55IlefsTer13
ENST00000480412.2:n.272_273del
ENST00000485908.6:c.562_563del	ENSP00000419897.1:p.Gln188IlefsTer13
ENST00000634559.1:c.466_467del	ENSP00000488986.1:p.Gln156IlefsTer13
ENST00000634736.1:c.361_362del	ENSP00000489561.1:p.Gln121IlefsTer13
ENST00000634838.1:c.667_668del	ENSP00000489268.1:p.Gln223IlefsTer13
ENST00000634852.1:n.364_365del
ENST00000634944.1:c.667_668del	ENSP00000488972.1:p.Gln223IlefsTer13
ENST00000635003.1:c.466_467del	ENSP00000489080.1:p.Gln156IlefsTer13
ENST00000635344.1:c.*318_*319del	ENSP00000489553.1:n.*318_*319del
ENST00000635666.1:c.595_596del	ENSP00000489128.1:p.Gln199IlefsTer13
NM_001029896.1:c.667_668del	NP_001025067.1:p.Gln223IlefsTer13
NM_007075.3:c.670_671del	NP_009006.2:p.Gln224IlefsTer13
NM_001029896.2:c.667_668del MANE Select	NP_001025067.1:p.Gln223IlefsTer13
NM_007075.4:c.670_671del	NP_009006.2:p.Gln224IlefsTer13