Canonical Allele Identifier: CA1139771846
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827166_112827176dup , CM000667.2:g.112827166_112827176dup GRCh38
NC_000005.9:g.112162863_112162873dup , CM000667.1:g.112162863_112162873dup GRCh37
NC_000005.8:g.112190762_112190772dup NCBI36
NG_008481.4:g.139646_139656dup , LRG_130:g.139646_139656dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1408+5175_1408+5185dup ENSP00000484935.2:n.1408+5175_1408+5185dup
ENST00000504915.3:c.1521_1531dup ENSP00000473355.2:p.Tyr511LeufsTer9
ENST00000505084.2:n.1523_1533dup
ENST00000505350.2:c.*1473_*1483dup ENSP00000481752.1:n.*1473_*1483dup
ENST00000507379.6:c.1413_1423dup ENSP00000423224.2:p.Tyr475LeufsTer9
ENST00000509732.6:c.1467_1477dup ENSP00000426541.2:p.Tyr493LeufsTer9
ENST00000512211.7:c.1467_1477dup ENSP00000423828.3:p.Tyr493LeufsTer9
ENST00000257430.9:c.1467_1477dup MANE Select ENSP00000257430.4:p.Tyr493LeufsTer9
ENST00000257430.8:c.1467_1477dup ENSP00000257430.4:p.Tyr493LeufsTer9
ENST00000502371.2:c.96+5175_96+5185dup
ENST00000504915.2:c.156_166dup ENSP00000473355.1:p.Tyr56LeufsTer9
ENST00000507379.5:c.1413_1423dup ENSP00000423224.1:p.Tyr475LeufsTer9
ENST00000508376.6:c.1467_1477dup ENSP00000427089.2:p.Tyr493LeufsTer9
ENST00000508624.5:c.*789_*799dup ENSP00000424265.1:n.*789_*799dup
ENST00000512211.6:c.1467_1477dup ENSP00000423828.2:p.Tyr493LeufsTer9
NM_000038.5:c.1467_1477dup NP_000029.2:p.Tyr493LeufsTer9
NM_001127510.2:c.1467_1477dup NP_001120982.1:p.Tyr493LeufsTer9
NM_001127511.2:c.1413_1423dup NP_001120983.2:p.Tyr475LeufsTer9
NM_001354895.1:c.1467_1477dup NP_001341824.1:p.Tyr493LeufsTer9
NM_001354896.1:c.1521_1531dup NP_001341825.1:p.Tyr511LeufsTer9
NM_001354897.1:c.1497_1507dup NP_001341826.1:p.Tyr503LeufsTer9
NM_001354898.1:c.1392_1402dup NP_001341827.1:p.Tyr468LeufsTer9
NM_001354899.1:c.1383_1393dup NP_001341828.1:p.Tyr465LeufsTer9
NM_001354900.1:c.1344_1354dup NP_001341829.1:p.Tyr452LeufsTer9
NM_001354901.1:c.1290_1300dup NP_001341830.1:p.Tyr434LeufsTer9
NM_001354902.1:c.1194_1204dup NP_001341831.1:p.Tyr402LeufsTer9
NM_001354903.1:c.1164_1174dup NP_001341832.1:p.Tyr392LeufsTer9
NM_001354904.1:c.1089_1099dup NP_001341833.1:p.Tyr367LeufsTer9
NM_001354905.1:c.987_997dup NP_001341834.1:p.Tyr333LeufsTer9
NM_001354906.1:c.618_628dup NP_001341835.1:p.Tyr210LeufsTer9
NM_000038.6:c.1467_1477dup MANE Select NP_000029.2:p.Tyr493LeufsTer9
NM_001127510.3:c.1467_1477dup NP_001120982.1:p.Tyr493LeufsTer9
NM_001127511.3:c.1413_1423dup NP_001120983.2:p.Tyr475LeufsTer9
NM_001354895.2:c.1467_1477dup NP_001341824.1:p.Tyr493LeufsTer9
NM_001354896.2:c.1521_1531dup NP_001341825.1:p.Tyr511LeufsTer9
NM_001354897.2:c.1497_1507dup NP_001341826.1:p.Tyr503LeufsTer9
NM_001354898.2:c.1392_1402dup NP_001341827.1:p.Tyr468LeufsTer9
NM_001354899.2:c.1383_1393dup NP_001341828.1:p.Tyr465LeufsTer9
NM_001354900.2:c.1344_1354dup NP_001341829.1:p.Tyr452LeufsTer9
NM_001354901.2:c.1290_1300dup NP_001341830.1:p.Tyr434LeufsTer9
NM_001354902.2:c.1194_1204dup NP_001341831.1:p.Tyr402LeufsTer9
NM_001354903.2:c.1164_1174dup NP_001341832.1:p.Tyr392LeufsTer9
NM_001354904.2:c.1089_1099dup NP_001341833.1:p.Tyr367LeufsTer9
NM_001354905.2:c.987_997dup NP_001341834.1:p.Tyr333LeufsTer9
NM_001354906.2:c.618_628dup NP_001341835.1:p.Tyr210LeufsTer9