Canonical Allele Identifier: CA16621425
Gene: WDR45 HGNC NCBI

Linked Data

ClinVar Variation Id: 418542
ClinVar RCV Id: RCV000486845 RCV001242357 RCV001266673
dbSNP Id: rs1064793294
gnomAD v4: X-49075439-AAGG-A
MyVariant Identifiers: chrX:g.48933099_48933101del (hg19) chrX:g.49075440_49075442del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075445_49075447del , CM000685.2:g.49075445_49075447del GRCh38
NC_000023.10:g.48933104_48933106del , CM000685.1:g.48933104_48933106del GRCh37
NC_000023.9:g.48820048_48820050del NCBI36
NG_033004.1:g.29959_29961del
NG_033004.2:g.30729_30731del

Transcript Alleles

HGVS Amino-acid change
ENST00000376372.9:c.749_751del MANE Select ENSP00000365551.3:p.Ser250del
ENST00000322995.13:c.782_784del ENSP00000365543.5:p.Ser261del
ENST00000356463.7:c.752_754del ENSP00000348848.3:p.Ser251del
ENST00000367375.8:c.528_530del
ENST00000376358.4:c.443_445del ENSP00000365536.3:p.Ser148del
ENST00000376368.7:c.752_754del ENSP00000365546.2:p.Ser251del
ENST00000376372.8:c.749_751del ENSP00000365551.3:p.Ser250del
ENST00000396681.9:c.632_634del ENSP00000379913.5:p.Ser211del
ENST00000433252.7:n.323_325del
ENST00000465806.6:n.1906_1908del
ENST00000473974.5:c.725+103_725+105del ENSP00000417211.1:n.725+103_725+105del
ENST00000475880.6:c.647_649del ENSP00000418919.2:p.Ser216del
ENST00000475977.2:c.245_247del ENSP00000417754.2:p.Ser82del
ENST00000480412.2:n.354_356del
ENST00000485908.6:c.644_646del ENSP00000419897.1:p.Ser215del
ENST00000634559.1:c.536_538del ENSP00000488986.1:p.Ser179del
ENST00000634736.1:c.443_445del ENSP00000489561.1:p.Ser148del
ENST00000634838.1:c.726-19_726-17del ENSP00000489268.1:n.726-19_726-17del
ENST00000634852.1:n.446_448del
ENST00000634944.1:c.749_751del ENSP00000488972.1:p.Ser250del
ENST00000635003.1:c.548_550del ENSP00000489080.1:p.Ser183del
ENST00000635344.1:c.*400_*402del ENSP00000489553.1:n.*400_*402del
ENST00000635666.1:c.677_679del ENSP00000489128.1:p.Ser226del
NM_001029896.1:c.749_751del NP_001025067.1:p.Ser250del
NM_007075.3:c.752_754del NP_009006.2:p.Ser251del
NM_001029896.2:c.749_751del MANE Select NP_001025067.1:p.Ser250del
NM_007075.4:c.752_754del NP_009006.2:p.Ser251del
Search 100 bp 5'
Search 100 bp 3'