Canonical Allele Identifier: CA550719907

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1179139
• ClinVar RCV Id: RCV001536016 ; RCV003771654
• dbSNP Id: rs1421636172
• gnomAD v2: 4-39246124-G-GTC
• gnomAD v3: 4-39244504-G-GTC
• gnomAD v4: 4-39244504-G-GTC
• MyVariant Identifiers: chr4:g.39246124_39246125insTC (hg19) ; chr4:g.39244504_39244505insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244508_39244509dup , CM000666.2:g.39244508_39244509dup	GRCh38
NC_000004.11:g.39246128_39246129dup , CM000666.1:g.39246128_39246129dup	GRCh37
NC_000004.10:g.38922523_38922524dup	NCBI36
NG_031813.1:g.67105_67106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2601_2602dup MANE Select	ENSP00000382717.3:p.Tyr868SerfsTer?
ENST00000399820.7:c.2601_2602dup	ENSP00000382717.3:p.Tyr868SerfsTer?
ENST00000506869.5:c.*2182_*2183dup	ENSP00000424319.1:n.*2182_*2183dup
ENST00000512095.5:n.1599_1600dup
NM_025132.3:c.2601_2602dup	NP_079408.3:p.Tyr868SerfsTer?
XM_011513724.1:c.2613_2614dup	XP_011512026.1:p.Tyr872SerfsTer?
XM_011513725.1:c.2547_2548dup	XP_011512027.1:p.Tyr850SerfsTer?
XM_011513726.1:c.2133_2134dup	XP_011512028.1:p.Tyr712SerfsTer?
XM_011513727.1:c.2133_2134dup	XP_011512029.1:p.Tyr712SerfsTer?
XM_011513728.1:c.2121_2122dup	XP_011512030.1:p.Tyr708SerfsTer?
XM_011513729.1:c.2613_2614dup	XP_011512031.1:p.Tyr872SerfsTer?
XR_925155.1:n.2677_2678dup
NM_001317924.1:c.2121_2122dup	NP_001304853.1:p.Tyr708SerfsTer?
XM_011513725.2:c.2547_2548dup	XP_011512027.1:p.Tyr850SerfsTer?
XM_011513726.3:c.2133_2134dup	XP_011512028.1:p.Tyr712SerfsTer?
XM_017008501.1:c.2121_2122dup	XP_016863990.1:p.Tyr708SerfsTer?
XR_001741306.1:n.2677_2678dup
XR_001741307.1:n.2665_2666dup
XR_001741308.1:n.2677_2678dup
XR_001741309.1:n.2665_2666dup
XR_001741310.1:n.2665_2666dup
XR_001741311.2:n.2514_2515dup
NM_025132.4:c.2601_2602dup MANE Select	NP_079408.3:p.Tyr868SerfsTer?
NM_001317924.2:c.2121_2122dup	NP_001304853.1:p.Tyr708SerfsTer?