Canonical Allele Identifier: CA16602357
Gene: WDR45 HGNC NCBI

Linked Data

ClinVar Variation Id: 375868
ClinVar RCV Id: RCV000417260
dbSNP Id: rs1057519622
MyVariant Identifiers: chrX:g.48935697_48935698del (hg19) chrX:g.49078038_49078039del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49078039_49078040del , CM000685.2:g.49078039_49078040del GRCh38
NC_000023.10:g.48935698_48935699del , CM000685.1:g.48935698_48935699del GRCh37
NC_000023.9:g.48822642_48822643del NCBI36
NG_033004.1:g.27362_27363del
NG_033004.2:g.28132_28133del

Transcript Alleles

HGVS Amino-acid change
ENST00000376372.9:c.55+2_55+3del MANE Select ENSP00000365551.3:n.55+2_55+3del
ENST00000322995.13:c.55+2_55+3del ENSP00000365543.5:n.55+2_55+3del
ENST00000356463.7:c.55+2_55+3del ENSP00000348848.3:n.55+2_55+3del
ENST00000376357.1:n.231+2_231+3del
ENST00000376358.4:c.55+2_55+3del ENSP00000365536.3:n.55+2_55+3del
ENST00000376368.7:c.55+2_55+3del ENSP00000365546.2:n.55+2_55+3del
ENST00000376372.8:c.55+2_55+3del ENSP00000365551.3:n.55+2_55+3del
ENST00000396681.9:c.55+2_55+3del ENSP00000379913.5:n.55+2_55+3del
ENST00000419567.7:c.55+2_55+3del ENSP00000393640.3:n.55+2_55+3del
ENST00000423215.3:c.55+2_55+3del ENSP00000397657.3:n.55+2_55+3del
ENST00000465382.6:c.55+2_55+3del ENSP00000420534.1:n.55+2_55+3del
ENST00000465431.6:n.178+2_178+3del
ENST00000465806.6:n.231+2_231+3del
ENST00000471338.6:c.55+2_55+3del ENSP00000418466.2:n.55+2_55+3del
ENST00000473974.5:c.55+2_55+3del ENSP00000417211.1:n.55+2_55+3del
ENST00000474053.6:c.55+2_55+3del ENSP00000420728.1:n.55+2_55+3del
ENST00000475880.6:c.55+2_55+3del ENSP00000418919.2:n.55+2_55+3del
ENST00000476728.5:c.55+2_55+3del ENSP00000419324.1:n.55+2_55+3del
ENST00000485908.6:c.55+2_55+3del ENSP00000419897.1:n.55+2_55+3del
ENST00000496803.6:n.237+2_237+3del
ENST00000634390.1:n.227+2_227+3del
ENST00000634522.1:c.55+2_55+3del ENSP00000489330.1:n.55+2_55+3del
ENST00000634559.1:c.55+2_55+3del ENSP00000488986.1:n.55+2_55+3del
ENST00000634671.1:c.55+2_55+3del ENSP00000489040.1:n.55+2_55+3del
ENST00000634711.1:n.237+2_237+3del
ENST00000634736.1:c.55+2_55+3del ENSP00000489561.1:n.55+2_55+3del
ENST00000634838.1:c.55+2_55+3del ENSP00000489268.1:n.55+2_55+3del
ENST00000634849.1:c.121+2_121+3del ENSP00000489150.1:n.121+2_121+3del
ENST00000634944.1:c.55+2_55+3del ENSP00000488972.1:n.55+2_55+3del
ENST00000635003.1:c.55+2_55+3del ENSP00000489080.1:n.55+2_55+3del
ENST00000635344.1:c.55+2_55+3del ENSP00000489553.1:n.55+2_55+3del
ENST00000635666.1:c.-17-128_-17-127del ENSP00000489128.1:n.-17-128_-17-127del
NM_001029896.1:c.55+2_55+3del NP_001025067.1:n.55+2_55+3del
NM_007075.3:c.55+2_55+3del NP_009006.2:n.55+2_55+3del
NM_001029896.2:c.55+2_55+3del MANE Select NP_001025067.1:n.55+2_55+3del
NM_007075.4:c.55+2_55+3del NP_009006.2:n.55+2_55+3del
Search 100 bp 5'
Search 100 bp 3'