Canonical Allele Identifier: CA2697546184
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2748653
ClinVar RCV Id: RCV003536633

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828864_112828865delinsAG , CM000667.2:g.112828864_112828865delinsAG GRCh38
NC_000005.9:g.112164561_112164562delinsAG , CM000667.1:g.112164561_112164562delinsAG GRCh37
NC_000005.8:g.112192460_112192461delinsAG NCBI36
NG_008481.4:g.141344_141345delinsAG , LRG_130:g.141344_141345delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1409-6087_1409-6086delinsAG ENSP00000484935.2:n.1409-6087_1409-6086de...
ENST00000504915.3:c.1689_1690delinsAG ENSP00000473355.2:p.Ser564Gly
ENST00000505084.2:n.1691_1692delinsAG
ENST00000505350.2:c.*1641_*1642delinsAG ENSP00000481752.1:n.*1641_*1642delinsAG
ENST00000507379.6:c.1581_1582delinsAG ENSP00000423224.2:p.Ser528Gly
ENST00000509732.6:c.1635_1636delinsAG ENSP00000426541.2:p.Ser546Gly
ENST00000512211.7:c.1635_1636delinsAG ENSP00000423828.3:p.Ser546Gly
ENST00000257430.9:c.1635_1636delinsAG MANE Select ENSP00000257430.4:p.Ser546Gly
ENST00000257430.8:c.1635_1636delinsAG ENSP00000257430.4:p.Ser546Gly
ENST00000502371.2:c.97-6087_97-6086delinsAG
ENST00000504915.2:c.324_325delinsAG ENSP00000473355.1:p.Ser109Gly
ENST00000505084.1:n.122_123delinsAG
ENST00000507379.5:c.1581_1582delinsAG ENSP00000423224.1:p.Ser528Gly
ENST00000508376.6:c.1635_1636delinsAG ENSP00000427089.2:p.Ser546Gly
ENST00000508624.5:c.*957_*958delinsAG ENSP00000424265.1:n.*957_*958delinsAG
ENST00000512211.6:c.1635_1636delinsAG ENSP00000423828.2:p.Ser546Gly
ENST00000520401.1:c.122_123delinsAG
NM_000038.5:c.1635_1636delinsAG NP_000029.2:p.Ser546Gly
NM_001127510.2:c.1635_1636delinsAG NP_001120982.1:p.Ser546Gly
NM_001127511.2:c.1581_1582delinsAG NP_001120983.2:p.Ser528Gly
NM_001354895.1:c.1635_1636delinsAG NP_001341824.1:p.Ser546Gly
NM_001354896.1:c.1689_1690delinsAG NP_001341825.1:p.Ser564Gly
NM_001354897.1:c.1665_1666delinsAG NP_001341826.1:p.Ser556Gly
NM_001354898.1:c.1560_1561delinsAG NP_001341827.1:p.Ser521Gly
NM_001354899.1:c.1551_1552delinsAG NP_001341828.1:p.Ser518Gly
NM_001354900.1:c.1512_1513delinsAG NP_001341829.1:p.Ser505Gly
NM_001354901.1:c.1458_1459delinsAG NP_001341830.1:p.Ser487Gly
NM_001354902.1:c.1362_1363delinsAG NP_001341831.1:p.Ser455Gly
NM_001354903.1:c.1332_1333delinsAG NP_001341832.1:p.Ser445Gly
NM_001354904.1:c.1257_1258delinsAG NP_001341833.1:p.Ser420Gly
NM_001354905.1:c.1155_1156delinsAG NP_001341834.1:p.Ser386Gly
NM_001354906.1:c.786_787delinsAG NP_001341835.1:p.Ser263Gly
NM_000038.6:c.1635_1636delinsAG MANE Select NP_000029.2:p.Ser546Gly
NM_001127510.3:c.1635_1636delinsAG NP_001120982.1:p.Ser546Gly
NM_001127511.3:c.1581_1582delinsAG NP_001120983.2:p.Ser528Gly
NM_001354895.2:c.1635_1636delinsAG NP_001341824.1:p.Ser546Gly
NM_001354896.2:c.1689_1690delinsAG NP_001341825.1:p.Ser564Gly
NM_001354897.2:c.1665_1666delinsAG NP_001341826.1:p.Ser556Gly
NM_001354898.2:c.1560_1561delinsAG NP_001341827.1:p.Ser521Gly
NM_001354899.2:c.1551_1552delinsAG NP_001341828.1:p.Ser518Gly
NM_001354900.2:c.1512_1513delinsAG NP_001341829.1:p.Ser505Gly
NM_001354901.2:c.1458_1459delinsAG NP_001341830.1:p.Ser487Gly
NM_001354902.2:c.1362_1363delinsAG NP_001341831.1:p.Ser455Gly
NM_001354903.2:c.1332_1333delinsAG NP_001341832.1:p.Ser445Gly
NM_001354904.2:c.1257_1258delinsAG NP_001341833.1:p.Ser420Gly
NM_001354905.2:c.1155_1156delinsAG NP_001341834.1:p.Ser386Gly
NM_001354906.2:c.786_787delinsAG NP_001341835.1:p.Ser263Gly