Canonical Allele Identifier: CA658684305

Gene: WDR45

Linked Data

• ClinVar Variation Id: 488640
• ClinVar RCV Id: RCV000578306
• dbSNP Id: rs1557084113
• MyVariant Identifiers: chrX:g.48933522_48933524del (hg19) ; chrX:g.49075863_49075865del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075866_49075868del , CM000685.2:g.49075866_49075868del	GRCh38
NC_000023.10:g.48933525_48933527del , CM000685.1:g.48933525_48933527del	GRCh37
NC_000023.9:g.48820469_48820471del	NCBI36
NG_033004.1:g.29536_29538del
NG_033004.2:g.30306_30308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.516+1_516+3del
ENST00000322995.13:c.549+1_549+3del
ENST00000356463.7:c.519+1_519+3del
ENST00000367375.8:c.385+1_385+3del
ENST00000376358.4:c.210+1_210+3del
ENST00000376368.7:c.519+1_519+3del
ENST00000376372.8:c.516+1_516+3del
ENST00000396681.9:c.411+1_411+3del
ENST00000419567.7:c.540+1_540+3del
ENST00000423215.3:c.570+1_570+3del
ENST00000433252.7:n.90+1_90+3del
ENST00000465806.6:n.1673+1_1673+3del
ENST00000471338.6:c.516+1_516+3del
ENST00000472654.1:n.506+1_506+3del
ENST00000473974.5:c.516+1_516+3del
ENST00000474053.6:c.591+1_591+3del
ENST00000475880.6:c.414+1_414+3del
ENST00000475977.2:c.12+1_12+3del
ENST00000480412.2:n.10_12del
ENST00000485908.6:c.411+1_411+3del
ENST00000634522.1:c.*167+1_*167+3del
ENST00000634559.1:c.315+1_315+3del
ENST00000634736.1:c.210+1_210+3del
ENST00000634838.1:c.516+1_516+3del
ENST00000634852.1:n.213+1_213+3del
ENST00000634944.1:c.516+1_516+3del
ENST00000635003.1:c.315+1_315+3del
ENST00000635344.1:c.*167+1_*167+3del
ENST00000635666.1:c.444+1_444+3del
NM_001029896.1:c.516+1_516+3del
NM_007075.3:c.519+1_519+3del
NM_001029896.2:c.516+1_516+3del
NM_007075.4:c.519+1_519+3del