Canonical Allele Identifier: CA2499220224
Gene: WAC HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28608338del , CM000672.2:g.28608338del GRCh38
NC_000010.10:g.28897267del , CM000672.1:g.28897267del GRCh37
NC_000010.9:g.28937273del NCBI36
NG_046603.1:g.80751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000495268.3:c.400del ENSP00000514964.1:p.Gln134ArgfsTer29
ENST00000700325.1:c.1060del ENSP00000514952.1:p.Gln354ArgfsTer29
ENST00000706612.1:c.1060del ENSP00000516469.1:p.Gln354ArgfsTer29
ENST00000354911.9:c.1072del MANE Select ENSP00000346986.4:p.Gln358ArgfsTer29
ENST00000414108.6:c.937del ENSP00000415645.2:p.Gln313ArgfsTer29
ENST00000420266.6:c.*986del ENSP00000404758.2:n.*986del
ENST00000428935.6:c.*81del ENSP00000399706.3:n.*81del
ENST00000442148.6:c.937del ENSP00000400848.2:p.Gln313ArgfsTer29
ENST00000628285.3:c.*498del ENSP00000486994.2:n.*498del
ENST00000679398.1:c.937del ENSP00000506624.1:p.Gln313ArgfsTer29
ENST00000679428.1:c.937del ENSP00000506445.1:p.Gln313ArgfsTer29
ENST00000679570.1:c.*1067del ENSP00000506705.1:n.*1067del
ENST00000680735.1:c.943del ENSP00000505513.1:p.Gln315ArgfsTer29
ENST00000681112.1:c.*925del ENSP00000505444.1:n.*925del
ENST00000345541.6:n.870del
ENST00000347934.8:c.763del ENSP00000311106.4:p.Gln255ArgfsTer29
ENST00000354911.8:c.1072del ENSP00000346986.4:p.Gln358ArgfsTer29
ENST00000375646.5:c.628del ENSP00000364797.1:p.Gln210ArgfsTer29
ENST00000375664.8:c.937del ENSP00000364816.3:p.Gln313ArgfsTer29
ENST00000424454.5:c.*1080del ENSP00000404125.2:n.*1080del
ENST00000428935.5:c.*498del ENSP00000399706.2:n.*498del
ENST00000439676.5:c.937del ENSP00000415727.1:p.Gln313ArgfsTer29
ENST00000476046.1:n.268del
ENST00000628285.2:c.*498del ENSP00000486994.1:n.*498del
NM_016628.4:c.1072del NP_057712.2:p.Gln358ArgfsTer29
NM_100264.2:c.937del NP_567822.1:p.Gln313ArgfsTer29
NM_100486.3:c.763del NP_567823.1:p.Gln255ArgfsTer29
XM_005252454.2:c.1090del XP_005252511.1:p.Gln364ArgfsTer29
XM_011519491.1:c.937del XP_011517793.1:p.Gln313ArgfsTer29
XR_930491.1:n.992del
XM_017016315.2:c.937del XP_016871804.1:p.Gln313ArgfsTer29
XM_017016317.2:c.628del XP_016871806.1:p.Gln210ArgfsTer29
XM_017016318.2:c.628del XP_016871807.1:p.Gln210ArgfsTer29
XM_024448036.1:c.937del XP_024303804.1:p.Gln313ArgfsTer29
XR_001747110.1:n.1027del
XR_930491.2:n.992del
NM_016628.5:c.1072del MANE Select NP_057712.2:p.Gln358ArgfsTer29
NM_100264.3:c.937del NP_567822.1:p.Gln313ArgfsTer29
NM_100486.4:c.763del NP_567823.1:p.Gln255ArgfsTer29