Canonical Allele Identifier: CA2582341389

Gene: APC

Linked Data

• ClinVar Variation Id: 2583677
• ClinVar RCV Id: RCV003334599

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828876_112828912del , CM000667.2:g.112828876_112828912del	GRCh38
NC_000005.9:g.112164573_112164609del , CM000667.1:g.112164573_112164609del	GRCh37
NC_000005.8:g.112192472_112192508del	NCBI36
NG_008481.4:g.141356_141392del , LRG_130:g.141356_141392del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6075_1409-6039del	ENSP00000484935.2:n.1409-6075_1409-6039de...
ENST00000504915.3:c.1701_1737del	ENSP00000473355.2:p.Asn568ArgfsTer8
ENST00000505084.2:n.1703_1739del
ENST00000505350.2:c.*1653_*1689del	ENSP00000481752.1:n.*1653_*1689del
ENST00000507379.6:c.1593_1629del	ENSP00000423224.2:p.Asn532ArgfsTer8
ENST00000509732.6:c.1647_1683del	ENSP00000426541.2:p.Asn550ArgfsTer8
ENST00000512211.7:c.1647_1683del	ENSP00000423828.3:p.Asn550ArgfsTer8
ENST00000257430.9:c.1647_1683del MANE Select	ENSP00000257430.4:p.Asn550ArgfsTer8
ENST00000257430.8:c.1647_1683del	ENSP00000257430.4:p.Asn550ArgfsTer8
ENST00000502371.2:c.97-6075_97-6039del
ENST00000504915.2:c.336_372del	ENSP00000473355.1:p.Asn113ArgfsTer8
ENST00000505084.1:n.134_170del
ENST00000507379.5:c.1593_1629del	ENSP00000423224.1:p.Asn532ArgfsTer8
ENST00000508376.6:c.1647_1683del	ENSP00000427089.2:p.Asn550ArgfsTer8
ENST00000508624.5:c.*969_*1005del	ENSP00000424265.1:n.*969_*1005del
ENST00000512211.6:c.1647_1683del	ENSP00000423828.2:p.Asn550ArgfsTer8
ENST00000520401.1:c.134_170del
NM_000038.5:c.1647_1683del	NP_000029.2:p.Asn550ArgfsTer8
NM_001127510.2:c.1647_1683del	NP_001120982.1:p.Asn550ArgfsTer8
NM_001127511.2:c.1593_1629del	NP_001120983.2:p.Asn532ArgfsTer8
NM_001354895.1:c.1647_1683del	NP_001341824.1:p.Asn550ArgfsTer8
NM_001354896.1:c.1701_1737del	NP_001341825.1:p.Asn568ArgfsTer8
NM_001354897.1:c.1677_1713del	NP_001341826.1:p.Asn560ArgfsTer8
NM_001354898.1:c.1572_1608del	NP_001341827.1:p.Asn525ArgfsTer8
NM_001354899.1:c.1563_1599del	NP_001341828.1:p.Asn522ArgfsTer8
NM_001354900.1:c.1524_1560del	NP_001341829.1:p.Asn509ArgfsTer8
NM_001354901.1:c.1470_1506del	NP_001341830.1:p.Asn491ArgfsTer8
NM_001354902.1:c.1374_1410del	NP_001341831.1:p.Asn459ArgfsTer8
NM_001354903.1:c.1344_1380del	NP_001341832.1:p.Asn449ArgfsTer8
NM_001354904.1:c.1269_1305del	NP_001341833.1:p.Asn424ArgfsTer8
NM_001354905.1:c.1167_1203del	NP_001341834.1:p.Asn390ArgfsTer8
NM_001354906.1:c.798_834del	NP_001341835.1:p.Asn267ArgfsTer8
NM_000038.6:c.1647_1683del MANE Select	NP_000029.2:p.Asn550ArgfsTer8
NM_001127510.3:c.1647_1683del	NP_001120982.1:p.Asn550ArgfsTer8
NM_001127511.3:c.1593_1629del	NP_001120983.2:p.Asn532ArgfsTer8
NM_001354895.2:c.1647_1683del	NP_001341824.1:p.Asn550ArgfsTer8
NM_001354896.2:c.1701_1737del	NP_001341825.1:p.Asn568ArgfsTer8
NM_001354897.2:c.1677_1713del	NP_001341826.1:p.Asn560ArgfsTer8
NM_001354898.2:c.1572_1608del	NP_001341827.1:p.Asn525ArgfsTer8
NM_001354899.2:c.1563_1599del	NP_001341828.1:p.Asn522ArgfsTer8
NM_001354900.2:c.1524_1560del	NP_001341829.1:p.Asn509ArgfsTer8
NM_001354901.2:c.1470_1506del	NP_001341830.1:p.Asn491ArgfsTer8
NM_001354902.2:c.1374_1410del	NP_001341831.1:p.Asn459ArgfsTer8
NM_001354903.2:c.1344_1380del	NP_001341832.1:p.Asn449ArgfsTer8
NM_001354904.2:c.1269_1305del	NP_001341833.1:p.Asn424ArgfsTer8
NM_001354905.2:c.1167_1203del	NP_001341834.1:p.Asn390ArgfsTer8
NM_001354906.2:c.798_834del	NP_001341835.1:p.Asn267ArgfsTer8