Canonical Allele Identifier: CA2582341257
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583470
ClinVar RCV Id: RCV003337141

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112819225dup , CM000667.2:g.112819225dup GRCh38
NC_000005.9:g.112154922dup , CM000667.1:g.112154922dup GRCh37
NC_000005.8:g.112182821dup NCBI36
NG_008481.4:g.131705dup , LRG_130:g.131705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1193dup ENSP00000484935.2:p.Arg399GlufsTer5
ENST00000504915.3:c.1193dup ENSP00000473355.2:p.Arg399GlufsTer5
ENST00000505084.2:n.1249dup
ENST00000505350.2:c.*1199dup ENSP00000481752.1:n.*1199dup
ENST00000507379.6:c.1139dup ENSP00000423224.2:p.Arg381GlufsTer5
ENST00000509732.6:c.1193dup ENSP00000426541.2:p.Arg399GlufsTer5
ENST00000512211.7:c.1193dup ENSP00000423828.3:p.Arg399GlufsTer5
ENST00000257430.9:c.1193dup MANE Select ENSP00000257430.4:p.Arg399GlufsTer5
ENST00000257430.8:c.1193dup ENSP00000257430.4:p.Arg399GlufsTer5
ENST00000507379.5:c.1139dup ENSP00000423224.1:p.Arg381GlufsTer5
ENST00000508376.6:c.1193dup ENSP00000427089.2:p.Arg399GlufsTer5
ENST00000508624.5:c.*515dup ENSP00000424265.1:n.*515dup
ENST00000512211.6:c.1193dup ENSP00000423828.2:p.Arg399GlufsTer5
NM_000038.5:c.1193dup NP_000029.2:p.Arg399GlufsTer5
NM_001127510.2:c.1193dup NP_001120982.1:p.Arg399GlufsTer5
NM_001127511.2:c.1139dup NP_001120983.2:p.Arg381GlufsTer5
NM_001354895.1:c.1193dup NP_001341824.1:p.Arg399GlufsTer5
NM_001354896.1:c.1193dup NP_001341825.1:p.Arg399GlufsTer5
NM_001354897.1:c.1223dup NP_001341826.1:p.Arg409GlufsTer5
NM_001354898.1:c.1118dup NP_001341827.1:p.Arg374GlufsTer5
NM_001354899.1:c.1109dup NP_001341828.1:p.Arg371GlufsTer5
NM_001354900.1:c.1016dup NP_001341829.1:p.Arg340GlufsTer5
NM_001354901.1:c.1016dup NP_001341830.1:p.Arg340GlufsTer5
NM_001354902.1:c.964-44dup NP_001341831.1:n.964-44dup
NM_001354903.1:c.934-44dup NP_001341832.1:n.934-44dup
NM_001354904.1:c.859-44dup NP_001341833.1:n.859-44dup
NM_001354905.1:c.757-44dup NP_001341834.1:n.757-44dup
NM_001354906.1:c.344dup NP_001341835.1:p.Arg116GlufsTer5
NM_000038.6:c.1193dup MANE Select NP_000029.2:p.Arg399GlufsTer5
NM_001127510.3:c.1193dup NP_001120982.1:p.Arg399GlufsTer5
NM_001127511.3:c.1139dup NP_001120983.2:p.Arg381GlufsTer5
NM_001354895.2:c.1193dup NP_001341824.1:p.Arg399GlufsTer5
NM_001354896.2:c.1193dup NP_001341825.1:p.Arg399GlufsTer5
NM_001354897.2:c.1223dup NP_001341826.1:p.Arg409GlufsTer5
NM_001354898.2:c.1118dup NP_001341827.1:p.Arg374GlufsTer5
NM_001354899.2:c.1109dup NP_001341828.1:p.Arg371GlufsTer5
NM_001354900.2:c.1016dup NP_001341829.1:p.Arg340GlufsTer5
NM_001354901.2:c.1016dup NP_001341830.1:p.Arg340GlufsTer5
NM_001354902.2:c.964-44dup NP_001341831.1:n.964-44dup
NM_001354903.2:c.934-44dup NP_001341832.1:n.934-44dup
NM_001354904.2:c.859-44dup NP_001341833.1:n.859-44dup
NM_001354905.2:c.757-44dup NP_001341834.1:n.757-44dup
NM_001354906.2:c.344dup NP_001341835.1:p.Arg116GlufsTer5