Canonical Allele Identifier: CA16618952
Gene: WAC HGNC NCBI

Linked Data

ClinVar Variation Id: 421041
ClinVar RCV Id: RCV000480714
dbSNP Id: rs1064794867

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28595780del , CM000672.2:g.28595780del GRCh38
NC_000010.10:g.28884709del , CM000672.1:g.28884709del GRCh37
NC_000010.9:g.28924715del NCBI36
NG_046603.1:g.68193del

Transcript Alleles

HGVS Amino-acid change
ENST00000700325.1:c.646del ENSP00000514952.1:p.Ile216PhefsTer?
ENST00000706612.1:c.646del ENSP00000516469.1:p.Ile216PhefsTer?
ENST00000354911.9:c.658del MANE Select ENSP00000346986.4:p.Ile220PhefsTer?
ENST00000414108.6:c.523del ENSP00000415645.2:p.Ile175PhefsTer?
ENST00000420266.6:c.*572del ENSP00000404758.2:n.*572del
ENST00000428935.6:c.561del ENSP00000399706.3:p.Cys189ValfsTer8
ENST00000442148.6:c.523del ENSP00000400848.2:p.Ile175PhefsTer?
ENST00000628285.3:c.*84del ENSP00000486994.2:n.*84del
ENST00000679398.1:c.523del ENSP00000506624.1:p.Ile175PhefsTer?
ENST00000679428.1:c.523del ENSP00000506445.1:p.Ile175PhefsTer?
ENST00000679570.1:c.*653del ENSP00000506705.1:n.*653del
ENST00000680735.1:c.529del ENSP00000505513.1:p.Ile177PhefsTer?
ENST00000681112.1:c.*511del ENSP00000505444.1:n.*511del
ENST00000345541.6:n.456del
ENST00000347934.8:c.610+4948del ENSP00000311106.4:n.610+4948del
ENST00000354911.8:c.658del ENSP00000346986.4:p.Ile220PhefsTer?
ENST00000375646.5:c.475+4948del ENSP00000364797.1:n.475+4948del
ENST00000375664.8:c.523del ENSP00000364816.3:p.Ile175PhefsTer?
ENST00000414108.5:c.523del ENSP00000415645.1:p.Ile175PhefsTer?
ENST00000420266.5:c.523del ENSP00000404758.1:p.Ile175PhefsTer?
ENST00000424454.5:c.*666del ENSP00000404125.2:n.*666del
ENST00000428935.5:c.*84del ENSP00000399706.2:n.*84del
ENST00000439676.5:c.523del ENSP00000415727.1:p.Ile175PhefsTer?
ENST00000628285.2:c.*84del ENSP00000486994.1:n.*84del
NM_016628.4:c.658del NP_057712.2:p.Ile220PhefsTer?
NM_100264.2:c.523del NP_567822.1:p.Ile175PhefsTer?
NM_100486.3:c.610+4948del NP_567823.1:n.610+4948del
XM_005252454.2:c.676del XP_005252511.1:p.Ile226PhefsTer?
XM_011519491.1:c.523del XP_011517793.1:p.Ile175PhefsTer?
XR_930491.1:n.578del
XM_017016315.2:c.523del XP_016871804.1:p.Ile175PhefsTer?
XM_017016317.2:c.475+4948del XP_016871806.1:n.475+4948del
XM_017016318.2:c.475+4948del XP_016871807.1:n.475+4948del
XM_024448036.1:c.523del XP_024303804.1:p.Ile175PhefsTer?
XR_001747110.1:n.613del
XR_930491.2:n.578del
NM_016628.5:c.658del MANE Select NP_057712.2:p.Ile220PhefsTer?
NM_100264.3:c.523del NP_567822.1:p.Ile175PhefsTer?
NM_100486.4:c.610+4948del NP_567823.1:n.610+4948del