Canonical Allele Identifier: CA915952293

Gene: WDR62

Linked Data

• ClinVar Variation Id: 817985
• ClinVar RCV Id: RCV001009224 ; RCV003985097
• dbSNP Id: rs1599851667
• gnomAD v3: 19-36104594-T-TC
• gnomAD v4: 19-36104594-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104598dup , CM000681.2:g.36104598dup	GRCh38
NC_000019.9:g.36595500dup , CM000681.1:g.36595500dup	GRCh37
NC_000019.8:g.41287340dup	NCBI36
NG_028101.1:g.54718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4219dup	ENSP00000270301.6:p.Leu1407ProfsTer2
ENST00000401500.7:c.4234dup MANE Select	ENSP00000384792.1:p.Leu1412ProfsTer2
ENST00000587391.6:c.*4094dup	ENSP00000465525.1:n.*4094dup
ENST00000679357.1:c.2314dup
ENST00000679598.1:c.979dup
ENST00000679682.1:c.4219dup	ENSP00000506226.1:p.Leu1407ProfsTer2
ENST00000679714.1:c.4228dup	ENSP00000506627.1:p.Leu1410ProfsTer2
ENST00000679757.1:c.3883dup	ENSP00000505158.1:p.Leu1295ProfsTer2
ENST00000679858.1:c.*3616dup	ENSP00000505655.1:n.*3616dup
ENST00000680211.1:c.835dup	ENSP00000506102.1:p.Leu279ProfsTer2
ENST00000680280.1:n.1737dup
ENST00000680349.1:n.2883dup
ENST00000680403.1:c.4219dup	ENSP00000505677.1:p.Leu1407ProfsTer2
ENST00000680564.1:c.3985dup	ENSP00000505582.1:p.Leu1329ProfsTer2
ENST00000680590.1:c.*2614dup	ENSP00000505350.1:n.*2614dup
ENST00000680597.1:c.967dup
ENST00000680739.1:c.1249dup
ENST00000680773.1:n.2735dup
ENST00000680806.1:c.*3537dup	ENSP00000506418.1:n.*3537dup
ENST00000680997.1:n.2166dup
ENST00000681608.1:n.2079dup
ENST00000681625.1:c.*1566dup	ENSP00000505555.1:n.*1566dup
ENST00000681648.1:n.2285dup
ENST00000270301.11:c.4219dup	ENSP00000270301.6:p.Leu1407ProfsTer2
ENST00000401500.6:c.4234dup	ENSP00000384792.1:p.Leu1412ProfsTer2
ENST00000587391.5:c.*4094dup	ENSP00000465525.1:n.*4094dup
NM_001083961.1:c.4234dup	NP_001077430.1:p.Leu1412ProfsTer2
NM_173636.4:c.4219dup	NP_775907.4:p.Leu1407ProfsTer2
XM_005258809.2:c.4123dup	XP_005258866.1:p.Leu1375ProfsTer2
XM_011526837.1:c.4219dup	XP_011525139.1:p.Leu1407ProfsTer2
XM_011526838.1:c.3985dup	XP_011525140.1:p.Leu1329ProfsTer2
XM_011526839.1:c.3883dup	XP_011525141.1:p.Leu1295ProfsTer2
XM_011526840.1:c.3226dup	XP_011525142.1:p.Leu1076ProfsTer2
XM_011526841.1:c.2812dup	XP_011525143.1:p.Leu938ProfsTer2
XM_011526842.1:c.2665dup	XP_011525144.1:p.Leu889ProfsTer2
XM_011526843.1:c.1981dup	XP_011525145.1:p.Leu661ProfsTer2
XM_011526844.1:c.1981dup	XP_011525146.1:p.Leu661ProfsTer2
XM_011526840.2:c.3226dup	XP_011525142.1:p.Leu1076ProfsTer2
XM_011526841.2:c.2812dup	XP_011525143.1:p.Leu938ProfsTer2
XM_011526844.2:c.1981dup	XP_011525146.1:p.Leu661ProfsTer2
XM_017026665.1:c.4234dup	XP_016882154.1:p.Leu1412ProfsTer2
NM_001083961.2:c.4234dup MANE Select	NP_001077430.1:p.Leu1412ProfsTer2
NM_173636.5:c.4219dup	NP_775907.4:p.Leu1407ProfsTer2