Canonical Allele Identifier: CA913012326
Gene: WNK4 HGNC NCBI

Linked Data

dbSNP Id: rs2054561341
MyVariant Identifiers: chr17:g.40939433del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42787415del , CM000679.2:g.42787415del GRCh38
NC_000017.10:g.40939433del , CM000679.1:g.40939433del GRCh37
NC_000017.9:g.38192959del NCBI36
NG_016227.1:g.11785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000246914.10:c.1614del MANE Select ENSP00000246914.4:p.Pro539LeufsTer?
ENST00000246914.9:c.1614del ENSP00000246914.4:p.Pro539LeufsTer?
ENST00000587705.5:n.294del
ENST00000591448.5:c.*115del ENSP00000467088.1:n.*115del
ENST00000592072.1:n.294del
NM_032387.4:c.1614del NP_115763.2:p.Pro539LeufsTer?
XM_005257595.3:c.1614del XP_005257652.1:p.Pro539LeufsTer?
XM_005257596.2:c.1614del XP_005257653.1:p.Pro539LeufsTer?
XM_005257597.3:c.1614del XP_005257654.1:p.Pro539LeufsTer?
XM_006722020.2:c.1614del XP_006722083.1:p.Pro539LeufsTer?
XM_006722021.1:c.606del XP_006722084.1:p.Pro203LeufsTer?
XM_006722022.1:c.606del XP_006722085.1:p.Pro203LeufsTer?
XM_011525132.1:c.1614del XP_011523434.1:p.Pro539LeufsTer?
XM_011525133.1:c.1614del XP_011523435.1:p.Pro539LeufsTer?
XM_011525134.1:c.1614del XP_011523436.1:p.Pro539LeufsTer?
XM_011525135.1:c.1614del XP_011523437.1:p.Pro539LeufsTer?
NM_001321299.1:c.606del NP_001308228.1:p.Pro203LeufsTer?
XM_017024962.1:c.1614del XP_016880451.1:p.Pro539LeufsTer?
XM_017024966.1:c.606del XP_016880455.1:p.Pro203LeufsTer?
NM_032387.5:c.1614del MANE Select NP_115763.2:p.Pro539LeufsTer?
NM_001321299.2:c.606del NP_001308228.1:p.Pro203LeufsTer?