Canonical Allele Identifier: CA2582341478
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583934
ClinVar RCV Id: RCV003337556

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838634dup , CM000667.2:g.112838634dup GRCh38
NC_000005.9:g.112174331dup , CM000667.1:g.112174331dup GRCh37
NC_000005.8:g.112202230dup NCBI36
NG_008481.4:g.151114dup , LRG_130:g.151114dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.2705dup ENSP00000484935.2:n.2705dup
ENST00000504915.3:c.3094dup ENSP00000473355.2:p.Met1032AsnfsTer3
ENST00000505350.2:c.*3046dup ENSP00000481752.1:n.*3046dup
ENST00000507379.6:c.2986dup ENSP00000423224.2:p.Met996AsnfsTer3
ENST00000509732.6:c.3040dup ENSP00000426541.2:p.Met1014AsnfsTer3
ENST00000512211.7:c.3040dup ENSP00000423828.3:p.Met1014AsnfsTer3
ENST00000257430.9:c.3040dup MANE Select ENSP00000257430.4:p.Met1014AsnfsTer3
ENST00000257430.8:c.3040dup ENSP00000257430.4:p.Met1014AsnfsTer3
ENST00000502371.2:c.1393dup
ENST00000507379.5:c.2986dup ENSP00000423224.1:p.Met996AsnfsTer3
ENST00000508376.6:c.3040dup ENSP00000427089.2:p.Met1014AsnfsTer3
ENST00000508624.5:c.*2362dup ENSP00000424265.1:n.*2362dup
ENST00000512211.6:c.3040dup ENSP00000423828.2:p.Met1014AsnfsTer3
ENST00000520401.1:c.230+9662dup
NM_000038.5:c.3040dup NP_000029.2:p.Met1014AsnfsTer3
NM_001127510.2:c.3040dup NP_001120982.1:p.Met1014AsnfsTer3
NM_001127511.2:c.2986dup NP_001120983.2:p.Met996AsnfsTer3
NM_001354895.1:c.3040dup NP_001341824.1:p.Met1014AsnfsTer3
NM_001354896.1:c.3094dup NP_001341825.1:p.Met1032AsnfsTer3
NM_001354897.1:c.3070dup NP_001341826.1:p.Met1024AsnfsTer3
NM_001354898.1:c.2965dup NP_001341827.1:p.Met989AsnfsTer3
NM_001354899.1:c.2956dup NP_001341828.1:p.Met986AsnfsTer3
NM_001354900.1:c.2917dup NP_001341829.1:p.Met973AsnfsTer3
NM_001354901.1:c.2863dup NP_001341830.1:p.Met955AsnfsTer3
NM_001354902.1:c.2767dup NP_001341831.1:p.Met923AsnfsTer3
NM_001354903.1:c.2737dup NP_001341832.1:p.Met913AsnfsTer3
NM_001354904.1:c.2662dup NP_001341833.1:p.Met888AsnfsTer3
NM_001354905.1:c.2560dup NP_001341834.1:p.Met854AsnfsTer3
NM_001354906.1:c.2191dup NP_001341835.1:p.Met731AsnfsTer3
NM_000038.6:c.3040dup MANE Select NP_000029.2:p.Met1014AsnfsTer3
NM_001127510.3:c.3040dup NP_001120982.1:p.Met1014AsnfsTer3
NM_001127511.3:c.2986dup NP_001120983.2:p.Met996AsnfsTer3
NM_001354895.2:c.3040dup NP_001341824.1:p.Met1014AsnfsTer3
NM_001354896.2:c.3094dup NP_001341825.1:p.Met1032AsnfsTer3
NM_001354897.2:c.3070dup NP_001341826.1:p.Met1024AsnfsTer3
NM_001354898.2:c.2965dup NP_001341827.1:p.Met989AsnfsTer3
NM_001354899.2:c.2956dup NP_001341828.1:p.Met986AsnfsTer3
NM_001354900.2:c.2917dup NP_001341829.1:p.Met973AsnfsTer3
NM_001354901.2:c.2863dup NP_001341830.1:p.Met955AsnfsTer3
NM_001354902.2:c.2767dup NP_001341831.1:p.Met923AsnfsTer3
NM_001354903.2:c.2737dup NP_001341832.1:p.Met913AsnfsTer3
NM_001354904.2:c.2662dup NP_001341833.1:p.Met888AsnfsTer3
NM_001354905.2:c.2560dup NP_001341834.1:p.Met854AsnfsTer3
NM_001354906.2:c.2191dup NP_001341835.1:p.Met731AsnfsTer3