Canonical Allele Identifier: CA915943496
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 825086
ClinVar RCV Id: RCV001022877
dbSNP Id: rs1580651080

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840264_112840272dup , CM000667.2:g.112840264_112840272dup GRCh38
NC_000005.9:g.112175961_112175969dup , CM000667.1:g.112175961_112175969dup GRCh37
NC_000005.8:g.112203860_112203868dup NCBI36
NG_008481.4:g.152744_152752dup , LRG_130:g.152744_152752dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4724_4732dup ENSP00000473355.2:p.Ser1577_Glu1578insValAspSer
ENST00000505350.2:c.*4676_*4684dup ENSP00000481752.1:n.*4676_*4684dup
ENST00000507379.6:c.4616_4624dup ENSP00000423224.2:p.Ser1541_Glu1542insValAspSer
ENST00000509732.6:c.4670_4678dup ENSP00000426541.2:p.Ser1559_Glu1560insValAspSer
ENST00000512211.7:c.4670_4678dup ENSP00000423828.3:p.Ser1559_Glu1560insValAspSer
ENST00000257430.9:c.4670_4678dup MANE Select ENSP00000257430.4:p.Ser1559_Glu1560insValAspSer
ENST00000257430.8:c.4670_4678dup ENSP00000257430.4:p.Ser1559_Glu1560insValAspSer
ENST00000508376.6:c.4670_4678dup ENSP00000427089.2:p.Ser1559_Glu1560insValAspSer
ENST00000508624.5:c.*3992_*4000dup ENSP00000424265.1:n.*3992_*4000dup
ENST00000520401.1:c.230+11292_230+11300dup
NM_000038.5:c.4670_4678dup NP_000029.2:p.Ser1559_Glu1560insValAspSer
NM_001127510.2:c.4670_4678dup NP_001120982.1:p.Ser1559_Glu1560insValAspSer
NM_001127511.2:c.4616_4624dup NP_001120983.2:p.Ser1541_Glu1542insValAspSer
NM_001354895.1:c.4670_4678dup NP_001341824.1:p.Ser1559_Glu1560insValAspSer
NM_001354896.1:c.4724_4732dup NP_001341825.1:p.Ser1577_Glu1578insValAspSer
NM_001354897.1:c.4700_4708dup NP_001341826.1:p.Ser1569_Glu1570insValAspSer
NM_001354898.1:c.4595_4603dup NP_001341827.1:p.Ser1534_Glu1535insValAspSer
NM_001354899.1:c.4586_4594dup NP_001341828.1:p.Ser1531_Glu1532insValAspSer
NM_001354900.1:c.4547_4555dup NP_001341829.1:p.Ser1518_Glu1519insValAspSer
NM_001354901.1:c.4493_4501dup NP_001341830.1:p.Ser1500_Glu1501insValAspSer
NM_001354902.1:c.4397_4405dup NP_001341831.1:p.Ser1468_Glu1469insValAspSer
NM_001354903.1:c.4367_4375dup NP_001341832.1:p.Ser1458_Glu1459insValAspSer
NM_001354904.1:c.4292_4300dup NP_001341833.1:p.Ser1433_Glu1434insValAspSer
NM_001354905.1:c.4190_4198dup NP_001341834.1:p.Ser1399_Glu1400insValAspSer
NM_001354906.1:c.3821_3829dup NP_001341835.1:p.Ser1276_Glu1277insValAspSer
NM_000038.6:c.4670_4678dup MANE Select NP_000029.2:p.Ser1559_Glu1560insValAspSer
NM_001127510.3:c.4670_4678dup NP_001120982.1:p.Ser1559_Glu1560insValAspSer
NM_001127511.3:c.4616_4624dup NP_001120983.2:p.Ser1541_Glu1542insValAspSer
NM_001354895.2:c.4670_4678dup NP_001341824.1:p.Ser1559_Glu1560insValAspSer
NM_001354896.2:c.4724_4732dup NP_001341825.1:p.Ser1577_Glu1578insValAspSer
NM_001354897.2:c.4700_4708dup NP_001341826.1:p.Ser1569_Glu1570insValAspSer
NM_001354898.2:c.4595_4603dup NP_001341827.1:p.Ser1534_Glu1535insValAspSer
NM_001354899.2:c.4586_4594dup NP_001341828.1:p.Ser1531_Glu1532insValAspSer
NM_001354900.2:c.4547_4555dup NP_001341829.1:p.Ser1518_Glu1519insValAspSer
NM_001354901.2:c.4493_4501dup NP_001341830.1:p.Ser1500_Glu1501insValAspSer
NM_001354902.2:c.4397_4405dup NP_001341831.1:p.Ser1468_Glu1469insValAspSer
NM_001354903.2:c.4367_4375dup NP_001341832.1:p.Ser1458_Glu1459insValAspSer
NM_001354904.2:c.4292_4300dup NP_001341833.1:p.Ser1433_Glu1434insValAspSer
NM_001354905.2:c.4190_4198dup NP_001341834.1:p.Ser1399_Glu1400insValAspSer
NM_001354906.2:c.3821_3829dup NP_001341835.1:p.Ser1276_Glu1277insValAspSer