Canonical Allele Identifier: CA279732
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 217937
dbSNP Id: rs863225319

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835099_112835111delinsAAT , CM000667.2:g.112835099_112835111delinsAAT GRCh38
NC_000005.9:g.112170796_112170808delinsAAT , CM000667.1:g.112170796_112170808delinsAAT GRCh37
NC_000005.8:g.112198695_112198707delinsAAT NCBI36
NG_008481.4:g.147579_147591delinsAAT , LRG_130:g.147579_147591delinsAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1892_1904delinsAAT MANE Select ENSP00000257430.4:p.Ile631LysfsTer2
ENST00000257430.8:c.1892_1904delinsAAT ENSP00000257430.4:p.Ile631LysfsTer2
ENST00000502371.2:n.245_257delinsAAT
ENST00000504915.2:n.581_593delinsAAT ENSP00000473355.1:p.Ile194LysfsTer2
ENST00000507379.5:c.1838_1850delinsAAT ENSP00000423224.1:p.Ile613LysfsTer2
ENST00000508376.6:c.1892_1904delinsAAT ENSP00000427089.2:p.Ile631LysfsTer2
ENST00000508624.5:c.*1214_*1226delinsAAT ENSP00000424265.1:p.=
ENST00000512211.6:c.1892_1904delinsAAT ENSP00000423828.2:p.Ile631LysfsTer2
ENST00000520401.1:n.230+6127_230+6139delinsAAT
NM_000038.5:c.1892_1904delinsAAT NP_000029.2:p.Ile631LysfsTer2
NM_001127510.2:c.1892_1904delinsAAT NP_001120982.1:p.Ile631LysfsTer2
NM_001127511.2:c.1838_1850delinsAAT NP_001120983.2:p.Ile613LysfsTer2
NM_001354895.1:c.1892_1904delinsAAT NP_001341824.1:p.Ile631LysfsTer2
NM_001354896.1:c.1946_1958delinsAAT NP_001341825.1:p.Ile649LysfsTer2
NM_001354897.1:c.1922_1934delinsAAT NP_001341826.1:p.Ile641LysfsTer2
NM_001354898.1:c.1817_1829delinsAAT NP_001341827.1:p.Ile606LysfsTer2
NM_001354899.1:c.1808_1820delinsAAT NP_001341828.1:p.Ile603LysfsTer2
NM_001354900.1:c.1769_1781delinsAAT NP_001341829.1:p.Ile590LysfsTer2
NM_001354901.1:c.1715_1727delinsAAT NP_001341830.1:p.Ile572LysfsTer2
NM_001354902.1:c.1619_1631delinsAAT NP_001341831.1:p.Ile540LysfsTer2
NM_001354903.1:c.1589_1601delinsAAT NP_001341832.1:p.Ile530LysfsTer2
NM_001354904.1:c.1514_1526delinsAAT NP_001341833.1:p.Ile505LysfsTer2
NM_001354905.1:c.1412_1424delinsAAT NP_001341834.1:p.Ile471LysfsTer2
NM_001354906.1:c.1043_1055delinsAAT NP_001341835.1:p.Ile348LysfsTer2
NM_000038.6:c.1892_1904delinsAAT MANE Select NP_000029.2:p.Ile631LysfsTer2
NM_001127510.3:c.1892_1904delinsAAT NP_001120982.1:p.Ile631LysfsTer2
NM_001127511.3:c.1838_1850delinsAAT NP_001120983.2:p.Ile613LysfsTer2
NM_001354895.2:c.1892_1904delinsAAT NP_001341824.1:p.Ile631LysfsTer2
NM_001354896.2:c.1946_1958delinsAAT NP_001341825.1:p.Ile649LysfsTer2
NM_001354897.2:c.1922_1934delinsAAT NP_001341826.1:p.Ile641LysfsTer2
NM_001354898.2:c.1817_1829delinsAAT NP_001341827.1:p.Ile606LysfsTer2
NM_001354899.2:c.1808_1820delinsAAT NP_001341828.1:p.Ile603LysfsTer2
NM_001354900.2:c.1769_1781delinsAAT NP_001341829.1:p.Ile590LysfsTer2
NM_001354901.2:c.1715_1727delinsAAT NP_001341830.1:p.Ile572LysfsTer2
NM_001354902.2:c.1619_1631delinsAAT NP_001341831.1:p.Ile540LysfsTer2
NM_001354903.2:c.1589_1601delinsAAT NP_001341832.1:p.Ile530LysfsTer2
NM_001354904.2:c.1514_1526delinsAAT NP_001341833.1:p.Ile505LysfsTer2
NM_001354905.2:c.1412_1424delinsAAT NP_001341834.1:p.Ile471LysfsTer2
NM_001354906.2:c.1043_1055delinsAAT NP_001341835.1:p.Ile348LysfsTer2