Canonical Allele Identifier: CA16042097
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 371809
ClinVar RCV Id: RCV002230221 RCV002356506
dbSNP Id: rs1057517544
MyVariant Identifiers: chr5:g.112177243_112177246del (hg19) chr5:g.112841546_112841549del (hg38)
PubMed: PMID:20223039
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841546_112841549del , CM000667.2:g.112841546_112841549del GRCh38
NC_000005.9:g.112177243_112177246del , CM000667.1:g.112177243_112177246del GRCh37
NC_000005.8:g.112205142_112205145del NCBI36
NG_008481.4:g.154026_154029del , LRG_130:g.154026_154029del

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.6006_6009del ENSP00000473355.2:p.Glu2003LeufsTer?
ENST00000505350.2:c.*5958_*5961del ENSP00000481752.1:n.*5958_*5961del
ENST00000507379.6:c.5898_5901del ENSP00000423224.2:p.Glu1967LeufsTer?
ENST00000509732.6:c.5952_5955del ENSP00000426541.2:p.Glu1985LeufsTer?
ENST00000512211.7:c.5952_5955del ENSP00000423828.3:p.Glu1985LeufsTer?
ENST00000257430.9:c.5952_5955del MANE Select ENSP00000257430.4:p.Glu1985LeufsTer?
ENST00000257430.8:c.5952_5955del ENSP00000257430.4:p.Glu1985LeufsTer?
ENST00000508376.6:c.5952_5955del ENSP00000427089.2:p.Glu1985LeufsTer?
ENST00000508624.5:c.*5274_*5277del ENSP00000424265.1:n.*5274_*5277del
ENST00000520401.1:c.230+12574_230+12577del
NM_000038.5:c.5952_5955del NP_000029.2:p.Glu1985LeufsTer?
NM_001127510.2:c.5952_5955del NP_001120982.1:p.Glu1985LeufsTer?
NM_001127511.2:c.5898_5901del NP_001120983.2:p.Glu1967LeufsTer?
NM_001354895.1:c.5952_5955del NP_001341824.1:p.Glu1985LeufsTer?
NM_001354896.1:c.6006_6009del NP_001341825.1:p.Glu2003LeufsTer?
NM_001354897.1:c.5982_5985del NP_001341826.1:p.Glu1995LeufsTer?
NM_001354898.1:c.5877_5880del NP_001341827.1:p.Glu1960LeufsTer?
NM_001354899.1:c.5868_5871del NP_001341828.1:p.Glu1957LeufsTer?
NM_001354900.1:c.5829_5832del NP_001341829.1:p.Glu1944LeufsTer?
NM_001354901.1:c.5775_5778del NP_001341830.1:p.Glu1926LeufsTer?
NM_001354902.1:c.5679_5682del NP_001341831.1:p.Glu1894LeufsTer?
NM_001354903.1:c.5649_5652del NP_001341832.1:p.Glu1884LeufsTer?
NM_001354904.1:c.5574_5577del NP_001341833.1:p.Glu1859LeufsTer?
NM_001354905.1:c.5472_5475del NP_001341834.1:p.Glu1825LeufsTer?
NM_001354906.1:c.5103_5106del NP_001341835.1:p.Glu1702LeufsTer?
NM_000038.6:c.5952_5955del MANE Select NP_000029.2:p.Glu1985LeufsTer?
NM_001127510.3:c.5952_5955del NP_001120982.1:p.Glu1985LeufsTer?
NM_001127511.3:c.5898_5901del NP_001120983.2:p.Glu1967LeufsTer?
NM_001354895.2:c.5952_5955del NP_001341824.1:p.Glu1985LeufsTer?
NM_001354896.2:c.6006_6009del NP_001341825.1:p.Glu2003LeufsTer?
NM_001354897.2:c.5982_5985del NP_001341826.1:p.Glu1995LeufsTer?
NM_001354898.2:c.5877_5880del NP_001341827.1:p.Glu1960LeufsTer?
NM_001354899.2:c.5868_5871del NP_001341828.1:p.Glu1957LeufsTer?
NM_001354900.2:c.5829_5832del NP_001341829.1:p.Glu1944LeufsTer?
NM_001354901.2:c.5775_5778del NP_001341830.1:p.Glu1926LeufsTer?
NM_001354902.2:c.5679_5682del NP_001341831.1:p.Glu1894LeufsTer?
NM_001354903.2:c.5649_5652del NP_001341832.1:p.Glu1884LeufsTer?
NM_001354904.2:c.5574_5577del NP_001341833.1:p.Glu1859LeufsTer?
NM_001354905.2:c.5472_5475del NP_001341834.1:p.Glu1825LeufsTer?
NM_001354906.2:c.5103_5106del NP_001341835.1:p.Glu1702LeufsTer?
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