Canonical Allele Identifier: CA645372647
Gene: WDR62 HGNC NCBI

Linked Data

ClinVar Variation Id: 437292
ClinVar RCV Id: RCV000504101
dbSNP Id: rs1555723585

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36101704_36101726dup , CM000681.2:g.36101704_36101726dup GRCh38
NC_000019.9:g.36592606_36592628dup , CM000681.1:g.36592606_36592628dup GRCh37
NC_000019.8:g.41284446_41284468dup NCBI36
NG_028101.1:g.51824_51846dup

Transcript Alleles

HGVS Amino-acid change
ENST00000270301.12:c.3012_3034dup ENSP00000270301.6:p.Pro1012GlnfsTer?
ENST00000401500.7:c.3012_3034dup MANE Select ENSP00000384792.1:p.Pro1012GlnfsTer?
ENST00000587391.6:c.*2048_*2070dup ENSP00000465525.1:n.*2048_*2070dup
ENST00000679357.1:c.802_824dup
ENST00000679422.1:c.762-310_762-288dup
ENST00000679682.1:c.2997_3019dup ENSP00000506226.1:p.Pro1007GlnfsTer?
ENST00000679714.1:c.3006_3028dup ENSP00000506627.1:p.Pro1010GlnfsTer?
ENST00000679757.1:c.2661_2683dup ENSP00000505158.1:p.Pro895GlnfsTer?
ENST00000679858.1:c.*2155_*2177dup ENSP00000505655.1:n.*2155_*2177dup
ENST00000680211.1:c.-388_-366dup ENSP00000506102.1:n.-388_-366dup
ENST00000680349.1:n.995_1017dup
ENST00000680403.1:c.3012_3034dup ENSP00000505677.1:p.Pro1012GlnfsTer?
ENST00000680564.1:c.2971+387_2971+409dup ENSP00000505582.1:n.2971+387_2971+409dup
ENST00000680590.1:c.*1407_*1429dup ENSP00000505350.1:n.*1407_*1429dup
ENST00000680773.1:n.689_711dup
ENST00000680806.1:c.*1801-310_*1801-288dup ENSP00000506418.1:n.*1801-310_*1801-288dup
ENST00000680997.1:n.359_381dup
ENST00000681088.1:c.674_696dup
ENST00000681625.1:c.*344_*366dup ENSP00000505555.1:n.*344_*366dup
ENST00000270301.11:c.3012_3034dup ENSP00000270301.6:p.Pro1012GlnfsTer?
ENST00000401500.6:c.3012_3034dup ENSP00000384792.1:p.Pro1012GlnfsTer?
ENST00000587391.5:c.*2048_*2070dup ENSP00000465525.1:n.*2048_*2070dup
NM_001083961.1:c.3012_3034dup NP_001077430.1:p.Pro1012GlnfsTer?
NM_173636.4:c.3012_3034dup NP_775907.4:p.Pro1012GlnfsTer?
XM_005258809.2:c.2972-310_2972-288dup XP_005258866.1:n.2972-310_2972-288dup
XM_011526837.1:c.2997_3019dup XP_011525139.1:p.Pro1007GlnfsTer?
XM_011526838.1:c.2971+387_2971+409dup XP_011525140.1:n.2971+387_2971+409dup
XM_011526839.1:c.2661_2683dup XP_011525141.1:p.Pro895GlnfsTer?
XM_011526840.1:c.2004_2026dup XP_011525142.1:p.Pro676GlnfsTer?
XM_011526841.1:c.1590_1612dup XP_011525143.1:p.Pro538GlnfsTer?
XM_011526842.1:c.1443_1465dup XP_011525144.1:p.Pro489GlnfsTer?
XM_011526843.1:c.759_781dup XP_011525145.1:p.Pro261GlnfsTer?
XM_011526844.1:c.759_781dup XP_011525146.1:p.Pro261GlnfsTer?
XM_011526840.2:c.2004_2026dup XP_011525142.1:p.Pro676GlnfsTer?
XM_011526841.2:c.1590_1612dup XP_011525143.1:p.Pro538GlnfsTer?
XM_011526844.2:c.759_781dup XP_011525146.1:p.Pro261GlnfsTer?
XM_017026665.1:c.3012_3034dup XP_016882154.1:p.Pro1012GlnfsTer?
NM_001083961.2:c.3012_3034dup MANE Select NP_001077430.1:p.Pro1012GlnfsTer?
NM_173636.5:c.3012_3034dup NP_775907.4:p.Pro1012GlnfsTer?