Canonical Allele Identifier: CA2695201330
Gene: WNK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2636287
ClinVar RCV Id: RCV003393132

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42787479_42787481del , CM000679.2:g.42787479_42787481del GRCh38
NC_000017.10:g.40939497_40939499del , CM000679.1:g.40939497_40939499del GRCh37
NC_000017.9:g.38193023_38193025del NCBI36
NG_016227.1:g.11849_11851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000246914.10:c.1678_1680del MANE Select ENSP00000246914.4:p.Glu560del
ENST00000246914.9:c.1678_1680del ENSP00000246914.4:p.Glu560del
ENST00000587705.5:n.358_360del
ENST00000591448.5:c.*179_*181del ENSP00000467088.1:n.*179_*181del
ENST00000592072.1:n.358_360del
NM_032387.4:c.1678_1680del NP_115763.2:p.Glu560del
XM_005257595.3:c.1678_1680del XP_005257652.1:p.Glu560del
XM_005257596.2:c.1678_1680del XP_005257653.1:p.Glu560del
XM_005257597.3:c.1678_1680del XP_005257654.1:p.Glu560del
XM_006722020.2:c.1678_1680del XP_006722083.1:p.Glu560del
XM_006722021.1:c.670_672del XP_006722084.1:p.Glu224del
XM_006722022.1:c.670_672del XP_006722085.1:p.Glu224del
XM_011525132.1:c.1678_1680del XP_011523434.1:p.Glu560del
XM_011525133.1:c.1678_1680del XP_011523435.1:p.Glu560del
XM_011525134.1:c.1678_1680del XP_011523436.1:p.Glu560del
XM_011525135.1:c.1678_1680del XP_011523437.1:p.Glu560del
NM_001321299.1:c.670_672del NP_001308228.1:p.Glu224del
XM_017024962.1:c.1678_1680del XP_016880451.1:p.Glu560del
XM_017024966.1:c.670_672del XP_016880455.1:p.Glu224del
NM_032387.5:c.1678_1680del MANE Select NP_115763.2:p.Glu560del
NM_001321299.2:c.670_672del NP_001308228.1:p.Glu224del