Canonical Allele Identifier: CA2580072447
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2013889
ClinVar RCV Id: RCV003742943

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828864_112828865delinsAT , CM000667.2:g.112828864_112828865delinsAT GRCh38
NC_000005.9:g.112164561_112164562delinsAT , CM000667.1:g.112164561_112164562delinsAT GRCh37
NC_000005.8:g.112192460_112192461delinsAT NCBI36
NG_008481.4:g.141344_141345delinsAT , LRG_130:g.141344_141345delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1409-6087_1409-6086delinsAT ENSP00000484935.2:n.1409-6087_1409-6086de...
ENST00000504915.3:c.1689_1690delinsAT ENSP00000473355.2:p.Ser564Cys
ENST00000505084.2:n.1691_1692delinsAT
ENST00000505350.2:c.*1641_*1642delinsAT ENSP00000481752.1:n.*1641_*1642delinsAT
ENST00000507379.6:c.1581_1582delinsAT ENSP00000423224.2:p.Ser528Cys
ENST00000509732.6:c.1635_1636delinsAT ENSP00000426541.2:p.Ser546Cys
ENST00000512211.7:c.1635_1636delinsAT ENSP00000423828.3:p.Ser546Cys
ENST00000257430.9:c.1635_1636delinsAT MANE Select ENSP00000257430.4:p.Ser546Cys
ENST00000257430.8:c.1635_1636delinsAT ENSP00000257430.4:p.Ser546Cys
ENST00000502371.2:c.97-6087_97-6086delinsAT
ENST00000504915.2:c.324_325delinsAT ENSP00000473355.1:p.Ser109Cys
ENST00000505084.1:n.122_123delinsAT
ENST00000507379.5:c.1581_1582delinsAT ENSP00000423224.1:p.Ser528Cys
ENST00000508376.6:c.1635_1636delinsAT ENSP00000427089.2:p.Ser546Cys
ENST00000508624.5:c.*957_*958delinsAT ENSP00000424265.1:n.*957_*958delinsAT
ENST00000512211.6:c.1635_1636delinsAT ENSP00000423828.2:p.Ser546Cys
ENST00000520401.1:c.122_123delinsAT
NM_000038.5:c.1635_1636delinsAT NP_000029.2:p.Ser546Cys
NM_001127510.2:c.1635_1636delinsAT NP_001120982.1:p.Ser546Cys
NM_001127511.2:c.1581_1582delinsAT NP_001120983.2:p.Ser528Cys
NM_001354895.1:c.1635_1636delinsAT NP_001341824.1:p.Ser546Cys
NM_001354896.1:c.1689_1690delinsAT NP_001341825.1:p.Ser564Cys
NM_001354897.1:c.1665_1666delinsAT NP_001341826.1:p.Ser556Cys
NM_001354898.1:c.1560_1561delinsAT NP_001341827.1:p.Ser521Cys
NM_001354899.1:c.1551_1552delinsAT NP_001341828.1:p.Ser518Cys
NM_001354900.1:c.1512_1513delinsAT NP_001341829.1:p.Ser505Cys
NM_001354901.1:c.1458_1459delinsAT NP_001341830.1:p.Ser487Cys
NM_001354902.1:c.1362_1363delinsAT NP_001341831.1:p.Ser455Cys
NM_001354903.1:c.1332_1333delinsAT NP_001341832.1:p.Ser445Cys
NM_001354904.1:c.1257_1258delinsAT NP_001341833.1:p.Ser420Cys
NM_001354905.1:c.1155_1156delinsAT NP_001341834.1:p.Ser386Cys
NM_001354906.1:c.786_787delinsAT NP_001341835.1:p.Ser263Cys
NM_000038.6:c.1635_1636delinsAT MANE Select NP_000029.2:p.Ser546Cys
NM_001127510.3:c.1635_1636delinsAT NP_001120982.1:p.Ser546Cys
NM_001127511.3:c.1581_1582delinsAT NP_001120983.2:p.Ser528Cys
NM_001354895.2:c.1635_1636delinsAT NP_001341824.1:p.Ser546Cys
NM_001354896.2:c.1689_1690delinsAT NP_001341825.1:p.Ser564Cys
NM_001354897.2:c.1665_1666delinsAT NP_001341826.1:p.Ser556Cys
NM_001354898.2:c.1560_1561delinsAT NP_001341827.1:p.Ser521Cys
NM_001354899.2:c.1551_1552delinsAT NP_001341828.1:p.Ser518Cys
NM_001354900.2:c.1512_1513delinsAT NP_001341829.1:p.Ser505Cys
NM_001354901.2:c.1458_1459delinsAT NP_001341830.1:p.Ser487Cys
NM_001354902.2:c.1362_1363delinsAT NP_001341831.1:p.Ser455Cys
NM_001354903.2:c.1332_1333delinsAT NP_001341832.1:p.Ser445Cys
NM_001354904.2:c.1257_1258delinsAT NP_001341833.1:p.Ser420Cys
NM_001354905.2:c.1155_1156delinsAT NP_001341834.1:p.Ser386Cys
NM_001354906.2:c.786_787delinsAT NP_001341835.1:p.Ser263Cys