Canonical Allele Identifier: CA2739273497
Community Standard Title: NM_001029896.2(WDR45):c.406_409del (p.Phe136SerfsTer23)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49076459_49076462del , CM000685.2:g.49076459_49076462del GRCh38
NC_000023.10:g.48934118_48934121del , CM000685.1:g.48934118_48934121del GRCh37
NC_000023.9:g.48821062_48821065del NCBI36
NG_033004.1:g.28941_28944del
NG_033004.2:g.29711_29714del

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.406_409del MANE Select NP_001025067.1:p.Phe136SerfsTer23
ENST00000376372.9:c.406_409del MANE Select ENSP00000365551.3:p.Phe136SerfsTer23
NM_001029896.1:c.406_409del NP_001025067.1:p.Phe136SerfsTer23
NM_007075.3:c.409_412del NP_009006.2:p.Phe137SerfsTer23
NM_007075.4:c.409_412del NP_009006.2:p.Phe137SerfsTer23
ENST00000322995.13:c.406_409del ENSP00000365543.5:p.Phe136SerfsTer20
ENST00000356463.7:c.409_412del ENSP00000348848.3:p.Phe137SerfsTer23
ENST00000367375.8:c.275_278del
ENST00000376358.4:c.131-515_131-512del ENSP00000365536.3:n.131-515_131-512del
ENST00000376368.7:c.409_412del ENSP00000365546.2:p.Phe137SerfsTer23
ENST00000376372.8:c.406_409del ENSP00000365551.3:p.Phe136SerfsTer23
ENST00000396681.9:c.301_304del ENSP00000379913.5:p.Phe101SerfsTer23
ENST00000419567.7:c.406_409del ENSP00000393640.3:p.Phe136SerfsTer?
ENST00000423215.3:c.460_463del ENSP00000397657.3:p.Phe154SerfsTer23
ENST00000465382.6:c.406_409del ENSP00000420534.1:p.Phe136SerfsTer20
ENST00000465806.6:n.1563_1566del
ENST00000471338.6:c.406_409del ENSP00000418466.2:p.Phe136SerfsTer23
ENST00000472654.1:n.311_314del
ENST00000473974.5:c.406_409del ENSP00000417211.1:p.Phe136SerfsTer23
ENST00000474053.6:c.481_484del ENSP00000420728.1:p.Phe161SerfsTer23
ENST00000475880.6:c.304_307del ENSP00000418919.2:p.Phe102SerfsTer23
ENST00000476728.5:c.301_304del ENSP00000419324.1:p.Phe101SerfsTer20
ENST00000485908.6:c.301_304del ENSP00000419897.1:p.Phe101SerfsTer23
ENST00000634465.1:n.684_687del
ENST00000634522.1:c.*57_*60del ENSP00000489330.1:n.*57_*60del
ENST00000634559.1:c.236-515_236-512del ENSP00000488986.1:n.236-515_236-512del
ENST00000634736.1:c.131-515_131-512del ENSP00000489561.1:n.131-515_131-512del
ENST00000634838.1:c.406_409del ENSP00000489268.1:p.Phe136SerfsTer23
ENST00000634849.1:c.475_478del ENSP00000489150.1:p.Phe159SerfsTer?
ENST00000634852.1:n.103_106del
ENST00000634944.1:c.406_409del ENSP00000488972.1:p.Phe136SerfsTer23
ENST00000635003.1:c.236-515_236-512del ENSP00000489080.1:n.236-515_236-512del
ENST00000635344.1:c.*57_*60del ENSP00000489553.1:n.*57_*60del
ENST00000635666.1:c.334_337del ENSP00000489128.1:p.Phe112SerfsTer23