Canonical Allele Identifier: CA2573138672

Gene: APC

Linked Data

• ClinVar Variation Id: 1374739
• ClinVar RCV Id: RCV003337372
• dbSNP Id: rs2149933386

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840748dup , CM000667.2:g.112840748dup	GRCh38
NC_000005.9:g.112176445dup , CM000667.1:g.112176445dup	GRCh37
NC_000005.8:g.112204344dup	NCBI36
NG_008481.4:g.153228dup , LRG_130:g.153228dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5208dup	ENSP00000473355.2:p.Glu1737ArgfsTer4
ENST00000505350.2:c.*5160dup	ENSP00000481752.1:n.*5160dup
ENST00000507379.6:c.5100dup	ENSP00000423224.2:p.Glu1701ArgfsTer4
ENST00000509732.6:c.5154dup	ENSP00000426541.2:p.Glu1719ArgfsTer4
ENST00000512211.7:c.5154dup	ENSP00000423828.3:p.Glu1719ArgfsTer4
ENST00000257430.9:c.5154dup MANE Select	ENSP00000257430.4:p.Glu1719ArgfsTer4
ENST00000257430.8:c.5154dup	ENSP00000257430.4:p.Glu1719ArgfsTer4
ENST00000508376.6:c.5154dup	ENSP00000427089.2:p.Glu1719ArgfsTer4
ENST00000508624.5:c.*4476dup	ENSP00000424265.1:n.*4476dup
ENST00000520401.1:c.230+11776dup
NM_000038.5:c.5154dup	NP_000029.2:p.Glu1719ArgfsTer4
NM_001127510.2:c.5154dup	NP_001120982.1:p.Glu1719ArgfsTer4
NM_001127511.2:c.5100dup	NP_001120983.2:p.Glu1701ArgfsTer4
NM_001354895.1:c.5154dup	NP_001341824.1:p.Glu1719ArgfsTer4
NM_001354896.1:c.5208dup	NP_001341825.1:p.Glu1737ArgfsTer4
NM_001354897.1:c.5184dup	NP_001341826.1:p.Glu1729ArgfsTer4
NM_001354898.1:c.5079dup	NP_001341827.1:p.Glu1694ArgfsTer4
NM_001354899.1:c.5070dup	NP_001341828.1:p.Glu1691ArgfsTer4
NM_001354900.1:c.5031dup	NP_001341829.1:p.Glu1678ArgfsTer4
NM_001354901.1:c.4977dup	NP_001341830.1:p.Glu1660ArgfsTer4
NM_001354902.1:c.4881dup	NP_001341831.1:p.Glu1628ArgfsTer4
NM_001354903.1:c.4851dup	NP_001341832.1:p.Glu1618ArgfsTer4
NM_001354904.1:c.4776dup	NP_001341833.1:p.Glu1593ArgfsTer4
NM_001354905.1:c.4674dup	NP_001341834.1:p.Glu1559ArgfsTer4
NM_001354906.1:c.4305dup	NP_001341835.1:p.Glu1436ArgfsTer4
NM_000038.6:c.5154dup MANE Select	NP_000029.2:p.Glu1719ArgfsTer4
NM_001127510.3:c.5154dup	NP_001120982.1:p.Glu1719ArgfsTer4
NM_001127511.3:c.5100dup	NP_001120983.2:p.Glu1701ArgfsTer4
NM_001354895.2:c.5154dup	NP_001341824.1:p.Glu1719ArgfsTer4
NM_001354896.2:c.5208dup	NP_001341825.1:p.Glu1737ArgfsTer4
NM_001354897.2:c.5184dup	NP_001341826.1:p.Glu1729ArgfsTer4
NM_001354898.2:c.5079dup	NP_001341827.1:p.Glu1694ArgfsTer4
NM_001354899.2:c.5070dup	NP_001341828.1:p.Glu1691ArgfsTer4
NM_001354900.2:c.5031dup	NP_001341829.1:p.Glu1678ArgfsTer4
NM_001354901.2:c.4977dup	NP_001341830.1:p.Glu1660ArgfsTer4
NM_001354902.2:c.4881dup	NP_001341831.1:p.Glu1628ArgfsTer4
NM_001354903.2:c.4851dup	NP_001341832.1:p.Glu1618ArgfsTer4
NM_001354904.2:c.4776dup	NP_001341833.1:p.Glu1593ArgfsTer4
NM_001354905.2:c.4674dup	NP_001341834.1:p.Glu1559ArgfsTer4
NM_001354906.2:c.4305dup	NP_001341835.1:p.Glu1436ArgfsTer4