Canonical Allele Identifier: CA347931
Gene: WAC HGNC NCBI

Linked Data

ClinVar Variation Id: 219144
dbSNP Id: rs864321693

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28535595del , CM000672.2:g.28535595del GRCh38
NC_000010.10:g.28824524del , CM000672.1:g.28824524del GRCh37
NC_000010.9:g.28864530del NCBI36
NG_046603.1:g.8008del

Transcript Alleles

HGVS Amino-acid change
ENST00000700325.1:c.-24del ENSP00000514952.1:n.-24del
ENST00000706612.1:c.102del ENSP00000516469.1:p.Ala35ArgfsTer2
ENST00000354911.9:c.112del MANE Select ENSP00000346986.4:p.Ser38AlafsTer?
ENST00000414108.6:c.-24del ENSP00000415645.2:n.-24del
ENST00000420266.6:c.*26del ENSP00000404758.2:n.*26del
ENST00000428935.6:c.-24del ENSP00000399706.3:n.-24del
ENST00000442148.6:c.-24del ENSP00000400848.2:n.-24del
ENST00000628285.3:c.-24del ENSP00000486994.2:n.-24del
ENST00000651441.1:c.-24del ENSP00000498450.1:n.-24del
ENST00000651598.1:c.-24del ENSP00000498480.1:n.-24del
ENST00000651885.1:c.130del ENSP00000498678.1:p.Ser44AlafsTer?
ENST00000679398.1:c.-24del ENSP00000506624.1:n.-24del
ENST00000679428.1:c.-24del ENSP00000506445.1:n.-24del
ENST00000679570.1:c.-24del ENSP00000506705.1:n.-24del
ENST00000680735.1:c.-16del ENSP00000505513.1:n.-16del
ENST00000681112.1:c.-24del ENSP00000505444.1:n.-24del
ENST00000347934.8:c.112del ENSP00000311106.4:p.Ser38AlafsTer?
ENST00000354911.8:c.112del ENSP00000346986.4:p.Ser38AlafsTer?
ENST00000375646.5:c.-24del ENSP00000364797.1:n.-24del
ENST00000375664.8:c.-24del ENSP00000364816.3:n.-24del
ENST00000414108.5:c.-24del ENSP00000415645.1:n.-24del
ENST00000420266.5:c.-24del ENSP00000404758.1:n.-24del
ENST00000424454.5:c.*120del ENSP00000404125.2:n.*120del
ENST00000428935.5:c.-16del ENSP00000399706.2:n.-16del
ENST00000439676.5:c.-24del ENSP00000415727.1:n.-24del
ENST00000442148.5:c.-24del ENSP00000400848.1:n.-24del
ENST00000448193.5:c.-24del ENSP00000395008.1:n.-24del
ENST00000526722.1:c.-24del ENSP00000434903.1:n.-24del
ENST00000528491.5:n.303del
ENST00000530865.5:n.95del
ENST00000532233.5:n.300del
ENST00000628285.2:c.-16del ENSP00000486994.1:n.-16del
NM_016628.4:c.112del NP_057712.2:p.Ser38AlafsTer?
NM_100264.2:c.-24del NP_567822.1:n.-24del
NM_100486.3:c.112del NP_567823.1:p.Ser38AlafsTer?
XM_005252454.2:c.130del XP_005252511.1:p.Ser44AlafsTer?
XM_011519491.1:c.-24del XP_011517793.1:n.-24del
XR_930491.1:n.32del
XM_017016315.2:c.-24del XP_016871804.1:n.-24del
XM_017016317.2:c.-24del XP_016871806.1:n.-24del
XM_017016318.2:c.-24del XP_016871807.1:n.-24del
XM_024448036.1:c.-24del XP_024303804.1:n.-24del
XR_001747110.1:n.67del
XR_930491.2:n.32del
NM_016628.5:c.112del MANE Select NP_057712.2:p.Ser38AlafsTer?
NM_100264.3:c.-24del NP_567822.1:n.-24del
NM_100486.4:c.112del NP_567823.1:p.Ser38AlafsTer?