Canonical Allele Identifier: CA278766

Gene: WDR45

Linked Data

• ClinVar Variation Id: 218903
• ClinVar RCV Id: RCV000203242 ; RCV000679877
• dbSNP Id: rs864309661
• MyVariant Identifiers: chrX:g.48935374_48935376del (hg19) ; chrX:g.49077715_49077717del (hg38)
• PubMed: PMID:23176820 ; PMID:23435086 ; PMID:23687123 ; PMID:24368176 ; PMID:26577041

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49077718_49077720del , CM000685.2:g.49077718_49077720del	GRCh38
NC_000023.10:g.48935377_48935379del , CM000685.1:g.48935377_48935379del	GRCh37
NC_000023.9:g.48822321_48822323del	NCBI36
NG_033004.1:g.27684_27686del
NG_033004.2:g.28454_28456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.161_163del MANE Select	ENSP00000365551.3:p.Val54del
ENST00000322995.13:c.161_163del	ENSP00000365543.5:p.Val54del
ENST00000356463.7:c.161_163del	ENSP00000348848.3:p.Val54del
ENST00000367375.8:c.30_32del
ENST00000376357.1:n.337_339del
ENST00000376358.4:c.130+120_130+122del	ENSP00000365536.3:n.130+120_130+122del
ENST00000376368.7:c.161_163del	ENSP00000365546.2:p.Val54del
ENST00000376372.8:c.161_163del	ENSP00000365551.3:p.Val54del
ENST00000396681.9:c.130+120_130+122del	ENSP00000379913.5:n.130+120_130+122del
ENST00000419567.7:c.161_163del	ENSP00000393640.3:p.Val54del
ENST00000423215.3:c.161_163del	ENSP00000397657.3:p.Val54del
ENST00000465382.6:c.161_163del	ENSP00000420534.1:p.Val54del
ENST00000465431.6:n.253+120_253+122del
ENST00000465806.6:n.426_428del
ENST00000471338.6:c.161_163del	ENSP00000418466.2:p.Val54del
ENST00000473974.5:c.161_163del	ENSP00000417211.1:p.Val54del
ENST00000474053.6:c.161_163del	ENSP00000420728.1:p.Val54del
ENST00000475880.6:c.130+120_130+122del	ENSP00000418919.2:n.130+120_130+122del
ENST00000476728.5:c.130+120_130+122del	ENSP00000419324.1:n.130+120_130+122del
ENST00000485908.6:c.130+120_130+122del	ENSP00000419897.1:n.130+120_130+122del
ENST00000496803.6:n.343_345del
ENST00000634390.1:n.333_335del
ENST00000634522.1:c.161_163del	ENSP00000489330.1:p.Val54del
ENST00000634559.1:c.161_163del	ENSP00000488986.1:p.Val54del
ENST00000634671.1:c.113_115del	ENSP00000489040.1:p.Val38del
ENST00000634711.1:n.432_434del
ENST00000634736.1:c.130+120_130+122del	ENSP00000489561.1:n.130+120_130+122del
ENST00000634838.1:c.161_163del	ENSP00000489268.1:p.Val54del
ENST00000634849.1:c.227_229del	ENSP00000489150.1:p.Val76del
ENST00000634944.1:c.161_163del	ENSP00000488972.1:p.Val54del
ENST00000635003.1:c.161_163del	ENSP00000489080.1:p.Val54del
ENST00000635344.1:c.130+120_130+122del	ENSP00000489553.1:n.130+120_130+122del
ENST00000635666.1:c.89_91del	ENSP00000489128.1:p.Val30del
NM_001029896.1:c.161_163del	NP_001025067.1:p.Val54del
NM_007075.3:c.161_163del	NP_009006.2:p.Val54del
NM_001029896.2:c.161_163del MANE Select	NP_001025067.1:p.Val54del
NM_007075.4:c.161_163del	NP_009006.2:p.Val54del