Canonical Allele Identifier: CA2695205053
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835139_112835140dup , CM000667.2:g.112835139_112835140dup GRCh38
NC_000005.9:g.112170836_112170837dup , CM000667.1:g.112170836_112170837dup GRCh37
NC_000005.8:g.112198735_112198736dup NCBI36
NG_008481.4:g.147619_147620dup , LRG_130:g.147619_147620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1597_1598dup ENSP00000484935.2:n.1597_1598dup
ENST00000504915.3:c.1986_1987dup ENSP00000473355.2:p.Leu663SerfsTer2
ENST00000505350.2:c.*1938_*1939dup ENSP00000481752.1:n.*1938_*1939dup
ENST00000507379.6:c.1878_1879dup ENSP00000423224.2:p.Leu627SerfsTer2
ENST00000509732.6:c.1932_1933dup ENSP00000426541.2:p.Leu645SerfsTer2
ENST00000512211.7:c.1932_1933dup ENSP00000423828.3:p.Leu645SerfsTer2
ENST00000257430.9:c.1932_1933dup MANE Select ENSP00000257430.4:p.Leu645SerfsTer2
ENST00000257430.8:c.1932_1933dup ENSP00000257430.4:p.Leu645SerfsTer2
ENST00000502371.2:c.285_286dup
ENST00000504915.2:c.621_622dup ENSP00000473355.1:p.Leu208SerfsTer2
ENST00000507379.5:c.1878_1879dup ENSP00000423224.1:p.Leu627SerfsTer2
ENST00000508376.6:c.1932_1933dup ENSP00000427089.2:p.Leu645SerfsTer2
ENST00000508624.5:c.*1254_*1255dup ENSP00000424265.1:n.*1254_*1255dup
ENST00000512211.6:c.1932_1933dup ENSP00000423828.2:p.Leu645SerfsTer2
ENST00000520401.1:c.230+6167_230+6168dup
NM_000038.5:c.1932_1933dup NP_000029.2:p.Leu645SerfsTer2
NM_001127510.2:c.1932_1933dup NP_001120982.1:p.Leu645SerfsTer2
NM_001127511.2:c.1878_1879dup NP_001120983.2:p.Leu627SerfsTer2
NM_001354895.1:c.1932_1933dup NP_001341824.1:p.Leu645SerfsTer2
NM_001354896.1:c.1986_1987dup NP_001341825.1:p.Leu663SerfsTer2
NM_001354897.1:c.1962_1963dup NP_001341826.1:p.Leu655SerfsTer2
NM_001354898.1:c.1857_1858dup NP_001341827.1:p.Leu620SerfsTer2
NM_001354899.1:c.1848_1849dup NP_001341828.1:p.Leu617SerfsTer2
NM_001354900.1:c.1809_1810dup NP_001341829.1:p.Leu604SerfsTer2
NM_001354901.1:c.1755_1756dup NP_001341830.1:p.Leu586SerfsTer2
NM_001354902.1:c.1659_1660dup NP_001341831.1:p.Leu554SerfsTer2
NM_001354903.1:c.1629_1630dup NP_001341832.1:p.Leu544SerfsTer2
NM_001354904.1:c.1554_1555dup NP_001341833.1:p.Leu519SerfsTer2
NM_001354905.1:c.1452_1453dup NP_001341834.1:p.Leu485SerfsTer2
NM_001354906.1:c.1083_1084dup NP_001341835.1:p.Leu362SerfsTer2
NM_000038.6:c.1932_1933dup MANE Select NP_000029.2:p.Leu645SerfsTer2
NM_001127510.3:c.1932_1933dup NP_001120982.1:p.Leu645SerfsTer2
NM_001127511.3:c.1878_1879dup NP_001120983.2:p.Leu627SerfsTer2
NM_001354895.2:c.1932_1933dup NP_001341824.1:p.Leu645SerfsTer2
NM_001354896.2:c.1986_1987dup NP_001341825.1:p.Leu663SerfsTer2
NM_001354897.2:c.1962_1963dup NP_001341826.1:p.Leu655SerfsTer2
NM_001354898.2:c.1857_1858dup NP_001341827.1:p.Leu620SerfsTer2
NM_001354899.2:c.1848_1849dup NP_001341828.1:p.Leu617SerfsTer2
NM_001354900.2:c.1809_1810dup NP_001341829.1:p.Leu604SerfsTer2
NM_001354901.2:c.1755_1756dup NP_001341830.1:p.Leu586SerfsTer2
NM_001354902.2:c.1659_1660dup NP_001341831.1:p.Leu554SerfsTer2
NM_001354903.2:c.1629_1630dup NP_001341832.1:p.Leu544SerfsTer2
NM_001354904.2:c.1554_1555dup NP_001341833.1:p.Leu519SerfsTer2
NM_001354905.2:c.1452_1453dup NP_001341834.1:p.Leu485SerfsTer2
NM_001354906.2:c.1083_1084dup NP_001341835.1:p.Leu362SerfsTer2