Canonical Allele Identifier: CA913189190
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827172_112827173dup , CM000667.2:g.112827172_112827173dup GRCh38
NC_000005.9:g.112162869_112162870dup , CM000667.1:g.112162869_112162870dup GRCh37
NC_000005.8:g.112190768_112190769dup NCBI36
NG_008481.4:g.139652_139653dup , LRG_130:g.139652_139653dup

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1408+5181_1408+5182dup ENSP00000484935.2:n.1408+5181_1408+5182du...
ENST00000504915.3:c.1527_1528dup ENSP00000473355.2:p.His510ProfsTer7
ENST00000505084.2:n.1529_1530dup
ENST00000505350.2:c.*1479_*1480dup ENSP00000481752.1:n.*1479_*1480dup
ENST00000507379.6:c.1419_1420dup ENSP00000423224.2:p.His474ProfsTer7
ENST00000509732.6:c.1473_1474dup ENSP00000426541.2:p.His492ProfsTer7
ENST00000512211.7:c.1473_1474dup ENSP00000423828.3:p.His492ProfsTer7
ENST00000257430.9:c.1473_1474dup MANE Select ENSP00000257430.4:p.His492ProfsTer7
ENST00000257430.8:c.1473_1474dup ENSP00000257430.4:p.His492ProfsTer7
ENST00000502371.2:c.96+5181_96+5182dup
ENST00000504915.2:c.162_163dup ENSP00000473355.1:p.His55ProfsTer7
ENST00000507379.5:c.1419_1420dup ENSP00000423224.1:p.His474ProfsTer7
ENST00000508376.6:c.1473_1474dup ENSP00000427089.2:p.His492ProfsTer7
ENST00000508624.5:c.*795_*796dup ENSP00000424265.1:n.*795_*796dup
ENST00000512211.6:c.1473_1474dup ENSP00000423828.2:p.His492ProfsTer7
NM_000038.5:c.1473_1474dup NP_000029.2:p.His492ProfsTer7
NM_001127510.2:c.1473_1474dup NP_001120982.1:p.His492ProfsTer7
NM_001127511.2:c.1419_1420dup NP_001120983.2:p.His474ProfsTer7
NM_001354895.1:c.1473_1474dup NP_001341824.1:p.His492ProfsTer7
NM_001354896.1:c.1527_1528dup NP_001341825.1:p.His510ProfsTer7
NM_001354897.1:c.1503_1504dup NP_001341826.1:p.His502ProfsTer7
NM_001354898.1:c.1398_1399dup NP_001341827.1:p.His467ProfsTer7
NM_001354899.1:c.1389_1390dup NP_001341828.1:p.His464ProfsTer7
NM_001354900.1:c.1350_1351dup NP_001341829.1:p.His451ProfsTer7
NM_001354901.1:c.1296_1297dup NP_001341830.1:p.His433ProfsTer7
NM_001354902.1:c.1200_1201dup NP_001341831.1:p.His401ProfsTer7
NM_001354903.1:c.1170_1171dup NP_001341832.1:p.His391ProfsTer7
NM_001354904.1:c.1095_1096dup NP_001341833.1:p.His366ProfsTer7
NM_001354905.1:c.993_994dup NP_001341834.1:p.His332ProfsTer7
NM_001354906.1:c.624_625dup NP_001341835.1:p.His209ProfsTer7
NM_000038.6:c.1473_1474dup MANE Select NP_000029.2:p.His492ProfsTer7
NM_001127510.3:c.1473_1474dup NP_001120982.1:p.His492ProfsTer7
NM_001127511.3:c.1419_1420dup NP_001120983.2:p.His474ProfsTer7
NM_001354895.2:c.1473_1474dup NP_001341824.1:p.His492ProfsTer7
NM_001354896.2:c.1527_1528dup NP_001341825.1:p.His510ProfsTer7
NM_001354897.2:c.1503_1504dup NP_001341826.1:p.His502ProfsTer7
NM_001354898.2:c.1398_1399dup NP_001341827.1:p.His467ProfsTer7
NM_001354899.2:c.1389_1390dup NP_001341828.1:p.His464ProfsTer7
NM_001354900.2:c.1350_1351dup NP_001341829.1:p.His451ProfsTer7
NM_001354901.2:c.1296_1297dup NP_001341830.1:p.His433ProfsTer7
NM_001354902.2:c.1200_1201dup NP_001341831.1:p.His401ProfsTer7
NM_001354903.2:c.1170_1171dup NP_001341832.1:p.His391ProfsTer7
NM_001354904.2:c.1095_1096dup NP_001341833.1:p.His366ProfsTer7
NM_001354905.2:c.993_994dup NP_001341834.1:p.His332ProfsTer7
NM_001354906.2:c.624_625dup NP_001341835.1:p.His209ProfsTer7