Canonical Allele Identifier: CA2580610723
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583400
ClinVar RCV Id: RCV003337071

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840507dup , CM000667.2:g.112840507dup GRCh38
NC_000005.9:g.112176204dup , CM000667.1:g.112176204dup GRCh37
NC_000005.8:g.112204103dup NCBI36
NG_008481.4:g.152987dup , LRG_130:g.152987dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4967dup ENSP00000473355.2:p.Met1656IlefsTer8
ENST00000505350.2:c.*4919dup ENSP00000481752.1:n.*4919dup
ENST00000507379.6:c.4859dup ENSP00000423224.2:p.Met1620IlefsTer8
ENST00000509732.6:c.4913dup ENSP00000426541.2:p.Met1638IlefsTer8
ENST00000512211.7:c.4913dup ENSP00000423828.3:p.Met1638IlefsTer8
ENST00000257430.9:c.4913dup MANE Select ENSP00000257430.4:p.Met1638IlefsTer8
ENST00000257430.8:c.4913dup ENSP00000257430.4:p.Met1638IlefsTer8
ENST00000508376.6:c.4913dup ENSP00000427089.2:p.Met1638IlefsTer8
ENST00000508624.5:c.*4235dup ENSP00000424265.1:n.*4235dup
ENST00000520401.1:c.230+11535dup
NM_000038.5:c.4913dup NP_000029.2:p.Met1638IlefsTer8
NM_001127510.2:c.4913dup NP_001120982.1:p.Met1638IlefsTer8
NM_001127511.2:c.4859dup NP_001120983.2:p.Met1620IlefsTer8
NM_001354895.1:c.4913dup NP_001341824.1:p.Met1638IlefsTer8
NM_001354896.1:c.4967dup NP_001341825.1:p.Met1656IlefsTer8
NM_001354897.1:c.4943dup NP_001341826.1:p.Met1648IlefsTer8
NM_001354898.1:c.4838dup NP_001341827.1:p.Met1613IlefsTer8
NM_001354899.1:c.4829dup NP_001341828.1:p.Met1610IlefsTer8
NM_001354900.1:c.4790dup NP_001341829.1:p.Met1597IlefsTer8
NM_001354901.1:c.4736dup NP_001341830.1:p.Met1579IlefsTer8
NM_001354902.1:c.4640dup NP_001341831.1:p.Met1547IlefsTer8
NM_001354903.1:c.4610dup NP_001341832.1:p.Met1537IlefsTer8
NM_001354904.1:c.4535dup NP_001341833.1:p.Met1512IlefsTer8
NM_001354905.1:c.4433dup NP_001341834.1:p.Met1478IlefsTer8
NM_001354906.1:c.4064dup NP_001341835.1:p.Met1355IlefsTer8
NM_000038.6:c.4913dup MANE Select NP_000029.2:p.Met1638IlefsTer8
NM_001127510.3:c.4913dup NP_001120982.1:p.Met1638IlefsTer8
NM_001127511.3:c.4859dup NP_001120983.2:p.Met1620IlefsTer8
NM_001354895.2:c.4913dup NP_001341824.1:p.Met1638IlefsTer8
NM_001354896.2:c.4967dup NP_001341825.1:p.Met1656IlefsTer8
NM_001354897.2:c.4943dup NP_001341826.1:p.Met1648IlefsTer8
NM_001354898.2:c.4838dup NP_001341827.1:p.Met1613IlefsTer8
NM_001354899.2:c.4829dup NP_001341828.1:p.Met1610IlefsTer8
NM_001354900.2:c.4790dup NP_001341829.1:p.Met1597IlefsTer8
NM_001354901.2:c.4736dup NP_001341830.1:p.Met1579IlefsTer8
NM_001354902.2:c.4640dup NP_001341831.1:p.Met1547IlefsTer8
NM_001354903.2:c.4610dup NP_001341832.1:p.Met1537IlefsTer8
NM_001354904.2:c.4535dup NP_001341833.1:p.Met1512IlefsTer8
NM_001354905.2:c.4433dup NP_001341834.1:p.Met1478IlefsTer8
NM_001354906.2:c.4064dup NP_001341835.1:p.Met1355IlefsTer8