Canonical Allele Identifier: CA16620823
Gene: WDR62 HGNC NCBI

Linked Data

ClinVar Variation Id: 418831
ClinVar RCV Id: RCV000480506
dbSNP Id: rs1064793462

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36104628_36104629delinsGTGGTCTGAG , CM000681.2:g.36104628_36104629delinsGTGGTCTGAG GRCh38
NC_000019.9:g.36595530_36595531delinsGTGGTCTGAG , CM000681.1:g.36595530_36595531delinsGTGGTCTGAG GRCh37
NC_000019.8:g.41287370_41287371delinsGTGGTCTGAG NCBI36
NG_028101.1:g.54748_54749delinsGTGGTCTGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000270301.12:c.4249_4250delinsGTGGTCTGAG ENSP00000270301.6:p.His1417ValfsTer3
ENST00000401500.7:c.4264_4265delinsGTGGTCTGAG MANE Select ENSP00000384792.1:p.His1422ValfsTer3
ENST00000587391.6:c.*4124_*4125delinsGTGGTCTGAG ENSP00000465525.1:n.*4124_*4125delinsGTGG...
ENST00000679357.1:c.2344_2345delinsGTGGTCTGAG
ENST00000679598.1:c.1009_1010delinsGTGGTCTGAG
ENST00000679682.1:c.4249_4250delinsGTGGTCTGAG ENSP00000506226.1:p.His1417ValfsTer3
ENST00000679714.1:c.4258_4259delinsGTGGTCTGAG ENSP00000506627.1:p.His1420ValfsTer3
ENST00000679757.1:c.3913_3914delinsGTGGTCTGAG ENSP00000505158.1:p.His1305ValfsTer3
ENST00000679858.1:c.*3646_*3647delinsGTGGTCTGAG ENSP00000505655.1:n.*3646_*3647delinsGTGG...
ENST00000680211.1:c.865_866delinsGTGGTCTGAG ENSP00000506102.1:p.His289ValfsTer3
ENST00000680280.1:n.1767_1768delinsGTGGTCTGAG
ENST00000680349.1:n.2913_2914delinsGTGGTCTGAG
ENST00000680403.1:c.4249_4250delinsGTGGTCTGAG ENSP00000505677.1:p.His1417ValfsTer3
ENST00000680564.1:c.4015_4016delinsGTGGTCTGAG ENSP00000505582.1:p.His1339ValfsTer3
ENST00000680590.1:c.*2644_*2645delinsGTGGTCTGAG ENSP00000505350.1:n.*2644_*2645delinsGTGG...
ENST00000680597.1:c.997_998delinsGTGGTCTGAG
ENST00000680739.1:c.1279_1280delinsGTGGTCTGAG
ENST00000680773.1:n.2765_2766delinsGTGGTCTGAG
ENST00000680806.1:c.*3567_*3568delinsGTGGTCTGAG ENSP00000506418.1:n.*3567_*3568delinsGTGG...
ENST00000680997.1:n.2196_2197delinsGTGGTCTGAG
ENST00000681608.1:n.2109_2110delinsGTGGTCTGAG
ENST00000681625.1:c.*1596_*1597delinsGTGGTCTGAG ENSP00000505555.1:n.*1596_*1597delinsGTGG...
ENST00000681648.1:n.2315_2316delinsGTGGTCTGAG
ENST00000270301.11:c.4249_4250delinsGTGGTCTGAG ENSP00000270301.6:p.His1417ValfsTer3
ENST00000401500.6:c.4264_4265delinsGTGGTCTGAG ENSP00000384792.1:p.His1422ValfsTer3
ENST00000587391.5:c.*4124_*4125delinsGTGGTCTGAG ENSP00000465525.1:n.*4124_*4125delinsGTGG...
NM_001083961.1:c.4264_4265delinsGTGGTCTGAG NP_001077430.1:p.His1422ValfsTer3
NM_173636.4:c.4249_4250delinsGTGGTCTGAG NP_775907.4:p.His1417ValfsTer3
XM_005258809.2:c.4153_4154delinsGTGGTCTGAG XP_005258866.1:p.His1385ValfsTer3
XM_011526837.1:c.4249_4250delinsGTGGTCTGAG XP_011525139.1:p.His1417ValfsTer3
XM_011526838.1:c.4015_4016delinsGTGGTCTGAG XP_011525140.1:p.His1339ValfsTer3
XM_011526839.1:c.3913_3914delinsGTGGTCTGAG XP_011525141.1:p.His1305ValfsTer3
XM_011526840.1:c.3256_3257delinsGTGGTCTGAG XP_011525142.1:p.His1086ValfsTer3
XM_011526841.1:c.2842_2843delinsGTGGTCTGAG XP_011525143.1:p.His948ValfsTer3
XM_011526842.1:c.2695_2696delinsGTGGTCTGAG XP_011525144.1:p.His899ValfsTer3
XM_011526843.1:c.2011_2012delinsGTGGTCTGAG XP_011525145.1:p.His671ValfsTer3
XM_011526844.1:c.2011_2012delinsGTGGTCTGAG XP_011525146.1:p.His671ValfsTer3
XM_011526840.2:c.3256_3257delinsGTGGTCTGAG XP_011525142.1:p.His1086ValfsTer3
XM_011526841.2:c.2842_2843delinsGTGGTCTGAG XP_011525143.1:p.His948ValfsTer3
XM_011526844.2:c.2011_2012delinsGTGGTCTGAG XP_011525146.1:p.His671ValfsTer3
XM_017026665.1:c.4264_4265delinsGTGGTCTGAG XP_016882154.1:p.His1422ValfsTer3
NM_001083961.2:c.4264_4265delinsGTGGTCTGAG MANE Select NP_001077430.1:p.His1422ValfsTer3
NM_173636.5:c.4249_4250delinsGTGGTCTGAG NP_775907.4:p.His1417ValfsTer3