Canonical Allele Identifier: CA209787

Gene: WDR45

Linked Data

• ClinVar Variation Id: 212594
• ClinVar RCV Id: RCV000195151
• dbSNP Id: rs797046103
• MyVariant Identifiers: chrX:g.48933020_48933021del (hg19) ; chrX:g.49075361_49075362del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075362_49075363del , CM000685.2:g.49075362_49075363del	GRCh38
NC_000023.10:g.48933021_48933022del , CM000685.1:g.48933021_48933022del	GRCh37
NC_000023.9:g.48819965_48819966del	NCBI36
NG_033004.1:g.30039_30040del
NG_033004.2:g.30809_30810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376372.9:c.827+2_827+3del MANE Select	ENSP00000365551.3:n.827+2_827+3del
ENST00000322995.13:c.860+2_860+3del	ENSP00000365543.5:n.860+2_860+3del
ENST00000356463.7:c.830+2_830+3del	ENSP00000348848.3:n.830+2_830+3del
ENST00000367375.8:c.606+2_606+3del
ENST00000376358.4:c.521+2_521+3del	ENSP00000365536.3:n.521+2_521+3del
ENST00000376368.7:c.830+2_830+3del	ENSP00000365546.2:n.830+2_830+3del
ENST00000376372.8:c.827+2_827+3del	ENSP00000365551.3:n.827+2_827+3del
ENST00000396681.9:c.710+2_710+3del	ENSP00000379913.5:n.710+2_710+3del
ENST00000433252.7:n.403_404del
ENST00000465806.6:n.1984+2_1984+3del
ENST00000473974.5:c.725+183_725+184del	ENSP00000417211.1:n.725+183_725+184del
ENST00000475977.2:c.323+2_323+3del	ENSP00000417754.2:n.323+2_323+3del
ENST00000480412.2:n.434_435del
ENST00000485908.6:c.722+2_722+3del	ENSP00000419897.1:n.722+2_722+3del
ENST00000486337.6:c.15+2_15+3del
ENST00000634559.1:c.614+2_614+3del	ENSP00000488986.1:n.614+2_614+3del
ENST00000634736.1:c.521+2_521+3del	ENSP00000489561.1:n.521+2_521+3del
ENST00000634838.1:c.785+2_785+3del	ENSP00000489268.1:n.785+2_785+3del
ENST00000634852.1:n.524+2_524+3del
ENST00000634944.1:c.827+2_827+3del	ENSP00000488972.1:n.827+2_827+3del
ENST00000635003.1:c.626+2_626+3del	ENSP00000489080.1:n.626+2_626+3del
ENST00000635666.1:c.755+2_755+3del	ENSP00000489128.1:n.755+2_755+3del
NM_001029896.1:c.827+2_827+3del	NP_001025067.1:n.827+2_827+3del
NM_007075.3:c.830+2_830+3del	NP_009006.2:n.830+2_830+3del
NM_001029896.2:c.827+2_827+3del MANE Select	NP_001025067.1:n.827+2_827+3del
NM_007075.4:c.830+2_830+3del	NP_009006.2:n.830+2_830+3del