Canonical Allele Identifier: CA2582341617
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583250
ClinVar RCV Id: RCV003337436

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842579dup , CM000667.2:g.112842579dup GRCh38
NC_000005.9:g.112178276dup , CM000667.1:g.112178276dup GRCh37
NC_000005.8:g.112206175dup NCBI36
NG_008481.4:g.155059dup , LRG_130:g.155059dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7039dup ENSP00000473355.2:p.Ile2347AsnfsTer5
ENST00000505350.2:c.*6991dup ENSP00000481752.1:n.*6991dup
ENST00000507379.6:c.6931dup ENSP00000423224.2:p.Ile2311AsnfsTer5
ENST00000509732.6:c.6985dup ENSP00000426541.2:p.Ile2329AsnfsTer5
ENST00000512211.7:c.6985dup ENSP00000423828.3:p.Ile2329AsnfsTer5
ENST00000257430.9:c.6985dup MANE Select ENSP00000257430.4:p.Ile2329AsnfsTer5
ENST00000257430.8:c.6985dup ENSP00000257430.4:p.Ile2329AsnfsTer5
ENST00000508376.6:c.6985dup ENSP00000427089.2:p.Ile2329AsnfsTer5
ENST00000508624.5:c.*6307dup ENSP00000424265.1:n.*6307dup
ENST00000520401.1:c.230+13607dup
NM_000038.5:c.6985dup NP_000029.2:p.Ile2329AsnfsTer5
NM_001127510.2:c.6985dup NP_001120982.1:p.Ile2329AsnfsTer5
NM_001127511.2:c.6931dup NP_001120983.2:p.Ile2311AsnfsTer5
NM_001354895.1:c.6985dup NP_001341824.1:p.Ile2329AsnfsTer5
NM_001354896.1:c.7039dup NP_001341825.1:p.Ile2347AsnfsTer5
NM_001354897.1:c.7015dup NP_001341826.1:p.Ile2339AsnfsTer5
NM_001354898.1:c.6910dup NP_001341827.1:p.Ile2304AsnfsTer5
NM_001354899.1:c.6901dup NP_001341828.1:p.Ile2301AsnfsTer5
NM_001354900.1:c.6862dup NP_001341829.1:p.Ile2288AsnfsTer5
NM_001354901.1:c.6808dup NP_001341830.1:p.Ile2270AsnfsTer5
NM_001354902.1:c.6712dup NP_001341831.1:p.Ile2238AsnfsTer5
NM_001354903.1:c.6682dup NP_001341832.1:p.Ile2228AsnfsTer5
NM_001354904.1:c.6607dup NP_001341833.1:p.Ile2203AsnfsTer5
NM_001354905.1:c.6505dup NP_001341834.1:p.Ile2169AsnfsTer5
NM_001354906.1:c.6136dup NP_001341835.1:p.Ile2046AsnfsTer5
NM_000038.6:c.6985dup MANE Select NP_000029.2:p.Ile2329AsnfsTer5
NM_001127510.3:c.6985dup NP_001120982.1:p.Ile2329AsnfsTer5
NM_001127511.3:c.6931dup NP_001120983.2:p.Ile2311AsnfsTer5
NM_001354895.2:c.6985dup NP_001341824.1:p.Ile2329AsnfsTer5
NM_001354896.2:c.7039dup NP_001341825.1:p.Ile2347AsnfsTer5
NM_001354897.2:c.7015dup NP_001341826.1:p.Ile2339AsnfsTer5
NM_001354898.2:c.6910dup NP_001341827.1:p.Ile2304AsnfsTer5
NM_001354899.2:c.6901dup NP_001341828.1:p.Ile2301AsnfsTer5
NM_001354900.2:c.6862dup NP_001341829.1:p.Ile2288AsnfsTer5
NM_001354901.2:c.6808dup NP_001341830.1:p.Ile2270AsnfsTer5
NM_001354902.2:c.6712dup NP_001341831.1:p.Ile2238AsnfsTer5
NM_001354903.2:c.6682dup NP_001341832.1:p.Ile2228AsnfsTer5
NM_001354904.2:c.6607dup NP_001341833.1:p.Ile2203AsnfsTer5
NM_001354905.2:c.6505dup NP_001341834.1:p.Ile2169AsnfsTer5
NM_001354906.2:c.6136dup NP_001341835.1:p.Ile2046AsnfsTer5