Canonical Allele Identifier: CA2580081435
Community Standard Title: NM_016628.5(WAC):c.228_231del (p.Ser76ArgfsTer?)
Gene: WAC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28535711_28535714del , CM000672.2:g.28535711_28535714del GRCh38
NC_000010.10:g.28824640_28824643del , CM000672.1:g.28824640_28824643del GRCh37
NC_000010.9:g.28864646_28864649del NCBI36
NG_046603.1:g.8124_8127del

Transcript Alleles

HGVS Amino-acid Change
NM_016628.5:c.228_231del MANE Select NP_057712.2:p.Ser76ArgfsTer?
ENST00000354911.9:c.228_231del MANE Select ENSP00000346986.4:p.Ser76ArgfsTer?
NM_016628.4:c.228_231del NP_057712.2:p.Ser76ArgfsTer?
NM_100264.2:c.93_96del NP_567822.1:p.Ser31ArgfsTer?
NM_100264.3:c.93_96del NP_567822.1:p.Ser31ArgfsTer?
NM_100486.3:c.228_231del NP_567823.1:p.Ser76ArgfsTer?
NM_100486.4:c.228_231del NP_567823.1:p.Ser76ArgfsTer?
ENST00000345541.6:n.26_29del
ENST00000347934.8:c.228_231del ENSP00000311106.4:p.Ser76ArgfsTer?
ENST00000354911.8:c.228_231del ENSP00000346986.4:p.Ser76ArgfsTer?
ENST00000375646.5:c.93_96del ENSP00000364797.1:p.Ser31ArgfsTer?
ENST00000375664.8:c.93_96del ENSP00000364816.3:p.Ser31ArgfsTer?
ENST00000414108.5:c.93_96del ENSP00000415645.1:p.Ser31ArgfsTer?
ENST00000414108.6:c.93_96del ENSP00000415645.2:p.Ser31ArgfsTer?
ENST00000420266.5:c.93_96del ENSP00000404758.1:p.Ser31ArgfsTer?
ENST00000420266.6:c.*142_*145del ENSP00000404758.2:n.*142_*145del
ENST00000424454.5:c.*236_*239del ENSP00000404125.2:n.*236_*239del
ENST00000428935.5:c.101_104del ENSP00000399706.2:p.Val34GlyfsTer10
ENST00000428935.6:c.93_96del ENSP00000399706.3:p.Ser31ArgfsTer?
ENST00000439676.5:c.93_96del ENSP00000415727.1:p.Ser31ArgfsTer?
ENST00000442148.5:c.93_96del ENSP00000400848.1:p.Ser31ArgfsTer?
ENST00000442148.6:c.93_96del ENSP00000400848.2:p.Ser31ArgfsTer?
ENST00000448193.5:c.93_96del ENSP00000395008.1:p.Ser31ArgfsTer?
ENST00000526722.1:c.93_96del ENSP00000434903.1:p.Ser31ArgfsTer?
ENST00000528491.5:n.419_422del
ENST00000530865.5:n.211_214del
ENST00000532233.5:n.416_419del
ENST00000628285.2:c.101_104del ENSP00000486994.1:p.Val34GlyfsTer10
ENST00000628285.3:c.93_96del ENSP00000486994.2:p.Ser31ArgfsTer30
ENST00000651441.1:c.93_96del ENSP00000498450.1:p.Ser31ArgfsTer?
ENST00000651598.1:c.93_96del ENSP00000498480.1:p.Ser31ArgfsTer?
ENST00000651885.1:c.246_249del ENSP00000498678.1:p.Ser82ArgfsTer?
ENST00000679398.1:c.93_96del ENSP00000506624.1:p.Ser31ArgfsTer?
ENST00000679428.1:c.93_96del ENSP00000506445.1:p.Ser31ArgfsTer?
ENST00000679570.1:c.93_96del ENSP00000506705.1:p.Ser31ArgfsTer18
ENST00000680735.1:c.101_104del ENSP00000505513.1:p.Val34GlyfsTer10
ENST00000681112.1:c.93_96del ENSP00000505444.1:p.Ser31ArgfsTer18
ENST00000700325.1:c.93_96del ENSP00000514952.1:p.Ser31ArgfsTer23
ENST00000706612.1:c.218_221del ENSP00000516469.1:p.Val73GlyfsTer10
XM_005252454.2:c.246_249del XP_005252511.1:p.Ser82ArgfsTer?
XM_011519491.1:c.93_96del XP_011517793.1:p.Ser31ArgfsTer?
XM_017016315.2:c.93_96del XP_016871804.1:p.Ser31ArgfsTer?
XM_017016317.2:c.93_96del XP_016871806.1:p.Ser31ArgfsTer?
XM_017016318.2:c.93_96del XP_016871807.1:p.Ser31ArgfsTer?
XM_024448036.1:c.93_96del XP_024303804.1:p.Ser31ArgfsTer?
XR_001747110.1:n.183_186del
XR_930491.1:n.148_151del
XR_930491.2:n.148_151del