Canonical Allele Identifier: CA658657957
Community Standard Title: NM_016628.5(WAC):c.251_252insAA (p.His84GlnfsTer?)
Gene: WAC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28535734_28535735insAA , CM000672.2:g.28535734_28535735insAA GRCh38
NC_000010.10:g.28824663_28824664insAA , CM000672.1:g.28824663_28824664insAA GRCh37
NC_000010.9:g.28864669_28864670insAA NCBI36
NG_046603.1:g.8147_8148insAA

Transcript Alleles

HGVS Amino-acid Change
NM_016628.5:c.251_252insAA MANE Select NP_057712.2:p.His84GlnfsTer?
ENST00000354911.9:c.251_252insAA MANE Select ENSP00000346986.4:p.His84GlnfsTer?
NM_016628.4:c.251_252insAA NP_057712.2:p.His84GlnfsTer?
NM_100264.2:c.116_117insAA NP_567822.1:p.His39GlnfsTer?
NM_100264.3:c.116_117insAA NP_567822.1:p.His39GlnfsTer?
NM_100486.3:c.251_252insAA NP_567823.1:p.His84GlnfsTer?
NM_100486.4:c.251_252insAA NP_567823.1:p.His84GlnfsTer?
ENST00000345541.6:n.49_50insAA
ENST00000347934.8:c.251_252insAA ENSP00000311106.4:p.His84GlnfsTer?
ENST00000354911.8:c.251_252insAA ENSP00000346986.4:p.His84GlnfsTer?
ENST00000375646.5:c.116_117insAA ENSP00000364797.1:p.His39GlnfsTer?
ENST00000375664.8:c.116_117insAA ENSP00000364816.3:p.His39GlnfsTer?
ENST00000414108.5:c.116_117insAA ENSP00000415645.1:p.His39GlnfsTer?
ENST00000414108.6:c.116_117insAA ENSP00000415645.2:p.His39GlnfsTer?
ENST00000420266.5:c.116_117insAA ENSP00000404758.1:p.His39GlnfsTer?
ENST00000420266.6:c.*165_*166insAA ENSP00000404758.2:n.*165_*166insAA
ENST00000424454.5:c.*259_*260insAA ENSP00000404125.2:n.*259_*260insAA
ENST00000428935.5:c.124_125insAA ENSP00000399706.2:p.Thr42LysfsTer4
ENST00000428935.6:c.116_117insAA ENSP00000399706.3:p.His39GlnfsTer?
ENST00000439676.5:c.116_117insAA ENSP00000415727.1:p.His39GlnfsTer?
ENST00000442148.5:c.116_117insAA ENSP00000400848.1:p.His39GlnfsTer?
ENST00000442148.6:c.116_117insAA ENSP00000400848.2:p.His39GlnfsTer?
ENST00000448193.5:c.116_117insAA ENSP00000395008.1:p.His39GlnfsTer?
ENST00000528491.5:n.442_443insAA
ENST00000530865.5:n.234_235insAA
ENST00000532233.5:n.439_440insAA
ENST00000628285.2:c.124_125insAA ENSP00000486994.1:p.Thr42LysfsTer4
ENST00000628285.3:c.116_117insAA ENSP00000486994.2:p.His39GlnfsTer24
ENST00000651441.1:c.116_117insAA ENSP00000498450.1:p.His39GlnfsTer?
ENST00000651598.1:c.116_117insAA ENSP00000498480.1:p.His39GlnfsTer?
ENST00000651885.1:c.269_270insAA ENSP00000498678.1:p.His90GlnfsTer?
ENST00000679398.1:c.116_117insAA ENSP00000506624.1:p.His39GlnfsTer?
ENST00000679428.1:c.116_117insAA ENSP00000506445.1:p.His39GlnfsTer?
ENST00000679570.1:c.116_117insAA ENSP00000506705.1:p.His39GlnfsTer12
ENST00000680735.1:c.124_125insAA ENSP00000505513.1:p.Thr42LysfsTer4
ENST00000681112.1:c.116_117insAA ENSP00000505444.1:p.His39GlnfsTer12
ENST00000700325.1:c.116_117insAA ENSP00000514952.1:p.His39GlnfsTer17
ENST00000706612.1:c.241_242insAA ENSP00000516469.1:p.Thr81LysfsTer4
XM_005252454.2:c.269_270insAA XP_005252511.1:p.His90GlnfsTer?
XM_011519491.1:c.116_117insAA XP_011517793.1:p.His39GlnfsTer?
XM_017016315.2:c.116_117insAA XP_016871804.1:p.His39GlnfsTer?
XM_017016317.2:c.116_117insAA XP_016871806.1:p.His39GlnfsTer?
XM_017016318.2:c.116_117insAA XP_016871807.1:p.His39GlnfsTer?
XM_024448036.1:c.116_117insAA XP_024303804.1:p.His39GlnfsTer?
XR_001747110.1:n.206_207insAA
XR_930491.1:n.171_172insAA
XR_930491.2:n.171_172insAA