Canonical Allele Identifier: CA10603731
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075686_49075687del , CM000685.2:g.49075686_49075687del GRCh38
NC_000023.10:g.48933345_48933346del , CM000685.1:g.48933345_48933346del GRCh37
NC_000023.9:g.48820289_48820290del NCBI36
NG_033004.1:g.29715_29716del
NG_033004.2:g.30485_30486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376372.9:c.584_585del MANE Select ENSP00000365551.3:p.Ile195SerfsTer26
ENST00000322995.13:c.617_618del ENSP00000365543.5:p.Ile206SerfsTer26
ENST00000356463.7:c.587_588del ENSP00000348848.3:p.Ile196SerfsTer26
ENST00000367375.8:c.386-23_386-22del
ENST00000376358.4:c.278_279del ENSP00000365536.3:p.Ile93SerfsTer26
ENST00000376368.7:c.587_588del ENSP00000365546.2:p.Ile196SerfsTer26
ENST00000376372.8:c.584_585del ENSP00000365551.3:p.Ile195SerfsTer26
ENST00000396681.9:c.479_480del ENSP00000379913.5:p.Ile160SerfsTer26
ENST00000419567.7:c.608_609del ENSP00000393640.3:p.Ile203SerfsTer?
ENST00000433252.7:n.158_159del
ENST00000465806.6:n.1741_1742del
ENST00000472654.1:n.574_575del
ENST00000473974.5:c.584_585del ENSP00000417211.1:p.Ile195SerfsTer26
ENST00000475880.6:c.482_483del ENSP00000418919.2:p.Ile161SerfsTer26
ENST00000475977.2:c.80_81del ENSP00000417754.2:p.Ile27SerfsTer26
ENST00000480412.2:n.189_190del
ENST00000485908.6:c.479_480del ENSP00000419897.1:p.Ile160SerfsTer26
ENST00000634559.1:c.383_384del ENSP00000488986.1:p.Ile128SerfsTer26
ENST00000634736.1:c.278_279del ENSP00000489561.1:p.Ile93SerfsTer26
ENST00000634838.1:c.584_585del ENSP00000489268.1:p.Ile195SerfsTer26
ENST00000634852.1:n.281_282del
ENST00000634944.1:c.584_585del ENSP00000488972.1:p.Ile195SerfsTer26
ENST00000635003.1:c.383_384del ENSP00000489080.1:p.Ile128SerfsTer26
ENST00000635344.1:c.*235_*236del ENSP00000489553.1:n.*235_*236del
ENST00000635666.1:c.512_513del ENSP00000489128.1:p.Ile171SerfsTer26
NM_001029896.1:c.584_585del NP_001025067.1:p.Ile195SerfsTer26
NM_007075.3:c.587_588del NP_009006.2:p.Ile196SerfsTer26
NM_001029896.2:c.584_585del MANE Select NP_001025067.1:p.Ile195SerfsTer26
NM_007075.4:c.587_588del NP_009006.2:p.Ile196SerfsTer26