Canonical Allele Identifier: CA2580072765
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1749982
ClinVar RCV Id: RCV002353249

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841428_112841432dup , CM000667.2:g.112841428_112841432dup GRCh38
NC_000005.9:g.112177125_112177129dup , CM000667.1:g.112177125_112177129dup GRCh37
NC_000005.8:g.112205024_112205028dup NCBI36
NG_008481.4:g.153908_153912dup , LRG_130:g.153908_153912dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5888_5892dup ENSP00000473355.2:p.Thr1965GlnfsTer25
ENST00000505350.2:c.*5840_*5844dup ENSP00000481752.1:n.*5840_*5844dup
ENST00000507379.6:c.5780_5784dup ENSP00000423224.2:p.Thr1929GlnfsTer25
ENST00000509732.6:c.5834_5838dup ENSP00000426541.2:p.Thr1947GlnfsTer25
ENST00000512211.7:c.5834_5838dup ENSP00000423828.3:p.Thr1947GlnfsTer25
ENST00000257430.9:c.5834_5838dup MANE Select ENSP00000257430.4:p.Thr1947GlnfsTer25
ENST00000257430.8:c.5834_5838dup ENSP00000257430.4:p.Thr1947GlnfsTer25
ENST00000508376.6:c.5834_5838dup ENSP00000427089.2:p.Thr1947GlnfsTer25
ENST00000508624.5:c.*5156_*5160dup ENSP00000424265.1:n.*5156_*5160dup
ENST00000520401.1:c.230+12456_230+12460dup
NM_000038.5:c.5834_5838dup NP_000029.2:p.Thr1947GlnfsTer25
NM_001127510.2:c.5834_5838dup NP_001120982.1:p.Thr1947GlnfsTer25
NM_001127511.2:c.5780_5784dup NP_001120983.2:p.Thr1929GlnfsTer25
NM_001354895.1:c.5834_5838dup NP_001341824.1:p.Thr1947GlnfsTer25
NM_001354896.1:c.5888_5892dup NP_001341825.1:p.Thr1965GlnfsTer25
NM_001354897.1:c.5864_5868dup NP_001341826.1:p.Thr1957GlnfsTer25
NM_001354898.1:c.5759_5763dup NP_001341827.1:p.Thr1922GlnfsTer25
NM_001354899.1:c.5750_5754dup NP_001341828.1:p.Thr1919GlnfsTer25
NM_001354900.1:c.5711_5715dup NP_001341829.1:p.Thr1906GlnfsTer25
NM_001354901.1:c.5657_5661dup NP_001341830.1:p.Thr1888GlnfsTer25
NM_001354902.1:c.5561_5565dup NP_001341831.1:p.Thr1856GlnfsTer25
NM_001354903.1:c.5531_5535dup NP_001341832.1:p.Thr1846GlnfsTer25
NM_001354904.1:c.5456_5460dup NP_001341833.1:p.Thr1821GlnfsTer25
NM_001354905.1:c.5354_5358dup NP_001341834.1:p.Thr1787GlnfsTer25
NM_001354906.1:c.4985_4989dup NP_001341835.1:p.Thr1664GlnfsTer25
NM_000038.6:c.5834_5838dup MANE Select NP_000029.2:p.Thr1947GlnfsTer25
NM_001127510.3:c.5834_5838dup NP_001120982.1:p.Thr1947GlnfsTer25
NM_001127511.3:c.5780_5784dup NP_001120983.2:p.Thr1929GlnfsTer25
NM_001354895.2:c.5834_5838dup NP_001341824.1:p.Thr1947GlnfsTer25
NM_001354896.2:c.5888_5892dup NP_001341825.1:p.Thr1965GlnfsTer25
NM_001354897.2:c.5864_5868dup NP_001341826.1:p.Thr1957GlnfsTer25
NM_001354898.2:c.5759_5763dup NP_001341827.1:p.Thr1922GlnfsTer25
NM_001354899.2:c.5750_5754dup NP_001341828.1:p.Thr1919GlnfsTer25
NM_001354900.2:c.5711_5715dup NP_001341829.1:p.Thr1906GlnfsTer25
NM_001354901.2:c.5657_5661dup NP_001341830.1:p.Thr1888GlnfsTer25
NM_001354902.2:c.5561_5565dup NP_001341831.1:p.Thr1856GlnfsTer25
NM_001354903.2:c.5531_5535dup NP_001341832.1:p.Thr1846GlnfsTer25
NM_001354904.2:c.5456_5460dup NP_001341833.1:p.Thr1821GlnfsTer25
NM_001354905.2:c.5354_5358dup NP_001341834.1:p.Thr1787GlnfsTer25
NM_001354906.2:c.4985_4989dup NP_001341835.1:p.Thr1664GlnfsTer25