Canonical Allele Identifier: CA214835
Gene: WDR45 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49074883_49074884del , CM000685.2:g.49074883_49074884del GRCh38
NC_000023.10:g.48932542_48932543del , CM000685.1:g.48932542_48932543del GRCh37
NC_000023.9:g.48819486_48819487del NCBI36
NG_033004.1:g.30519_30520del
NG_033004.2:g.31289_31290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376372.9:c.1004_1005del MANE Select ENSP00000365551.3:p.Tyr335CysfsTer5
ENST00000322995.13:c.1037_1038del ENSP00000365543.5:p.Tyr346CysfsTer5
ENST00000356463.7:c.1007_1008del ENSP00000348848.3:p.Tyr336CysfsTer5
ENST00000367375.8:c.783_784del
ENST00000376358.4:c.521+482_521+483del ENSP00000365536.3:n.521+482_521+483del
ENST00000376368.7:c.1007_1008del ENSP00000365546.2:p.Tyr336CysfsTer5
ENST00000376372.8:c.1004_1005del ENSP00000365551.3:p.Tyr335CysfsTer5
ENST00000396681.9:c.887_888del ENSP00000379913.5:p.Tyr296CysfsTer5
ENST00000433252.7:n.883_884del
ENST00000465806.6:n.2161_2162del
ENST00000473974.5:c.756_757del ENSP00000417211.1:p.Ile252MetfsTer?
ENST00000475977.2:c.354_355del ENSP00000417754.2:p.Ile118MetfsTer?
ENST00000485908.6:c.899_900del ENSP00000419897.1:p.Tyr300CysfsTer5
ENST00000486337.6:c.180_181del
ENST00000634559.1:c.791_792del ENSP00000488986.1:p.Tyr264CysfsTer5
ENST00000634838.1:c.962_963del ENSP00000489268.1:p.Tyr321CysfsTer5
ENST00000634852.1:n.701_702del
ENST00000634944.1:c.1004_1005del ENSP00000488972.1:p.Tyr335CysfsTer5
ENST00000635003.1:c.803_804del ENSP00000489080.1:p.Tyr268CysfsTer5
NM_001029896.1:c.1004_1005del NP_001025067.1:p.Tyr335CysfsTer5
NM_007075.3:c.1007_1008del NP_009006.2:p.Tyr336CysfsTer5
NM_001029896.2:c.1004_1005del MANE Select NP_001025067.1:p.Tyr335CysfsTer5
NM_007075.4:c.1007_1008del NP_009006.2:p.Tyr336CysfsTer5
Search 100 bp 5'
Search 100 bp 3'