Canonical Allele Identifier: CA658760514

Gene: APC

Linked Data

• ClinVar Variation Id: 2584075
• ClinVar RCV Id: RCV003334997 ; RCV003459842
• PubMed: PMID:20924072

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828903_112828909del , CM000667.2:g.112828903_112828909del	GRCh38
NC_000005.9:g.112164600_112164606del , CM000667.1:g.112164600_112164606del	GRCh37
NC_000005.8:g.112192499_112192505del	NCBI36
NG_008481.4:g.141383_141389del , LRG_130:g.141383_141389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-6048_1409-6042del	ENSP00000484935.2:n.1409-6048_1409-6042del
ENST00000504915.3:c.1728_1734del	ENSP00000473355.2:p.Asn576LysfsTer10
ENST00000505084.2:n.1730_1736del
ENST00000505350.2:c.*1680_*1686del	ENSP00000481752.1:n.*1680_*1686del
ENST00000507379.6:c.1620_1626del	ENSP00000423224.2:p.Asn540LysfsTer10
ENST00000509732.6:c.1674_1680del	ENSP00000426541.2:p.Asn558LysfsTer10
ENST00000512211.7:c.1674_1680del	ENSP00000423828.3:p.Asn558LysfsTer10
ENST00000257430.9:c.1674_1680del MANE Select	ENSP00000257430.4:p.Asn558LysfsTer10
ENST00000257430.8:c.1674_1680del	ENSP00000257430.4:p.Asn558LysfsTer10
ENST00000502371.2:c.97-6048_97-6042del
ENST00000504915.2:c.363_369del	ENSP00000473355.1:p.Asn121LysfsTer10
ENST00000505084.1:n.161_167del
ENST00000507379.5:c.1620_1626del	ENSP00000423224.1:p.Asn540LysfsTer10
ENST00000508376.6:c.1674_1680del	ENSP00000427089.2:p.Asn558LysfsTer10
ENST00000508624.5:c.*996_*1002del	ENSP00000424265.1:n.*996_*1002del
ENST00000512211.6:c.1674_1680del	ENSP00000423828.2:p.Asn558LysfsTer10
ENST00000520401.1:c.161_167del
NM_000038.5:c.1674_1680del	NP_000029.2:p.Asn558LysfsTer10
NM_001127510.2:c.1674_1680del	NP_001120982.1:p.Asn558LysfsTer10
NM_001127511.2:c.1620_1626del	NP_001120983.2:p.Asn540LysfsTer10
NM_001354895.1:c.1674_1680del	NP_001341824.1:p.Asn558LysfsTer10
NM_001354896.1:c.1728_1734del	NP_001341825.1:p.Asn576LysfsTer10
NM_001354897.1:c.1704_1710del	NP_001341826.1:p.Asn568LysfsTer10
NM_001354898.1:c.1599_1605del	NP_001341827.1:p.Asn533LysfsTer10
NM_001354899.1:c.1590_1596del	NP_001341828.1:p.Asn530LysfsTer10
NM_001354900.1:c.1551_1557del	NP_001341829.1:p.Asn517LysfsTer10
NM_001354901.1:c.1497_1503del	NP_001341830.1:p.Asn499LysfsTer10
NM_001354902.1:c.1401_1407del	NP_001341831.1:p.Asn467LysfsTer10
NM_001354903.1:c.1371_1377del	NP_001341832.1:p.Asn457LysfsTer10
NM_001354904.1:c.1296_1302del	NP_001341833.1:p.Asn432LysfsTer10
NM_001354905.1:c.1194_1200del	NP_001341834.1:p.Asn398LysfsTer10
NM_001354906.1:c.825_831del	NP_001341835.1:p.Asn275LysfsTer10
NM_000038.6:c.1674_1680del MANE Select	NP_000029.2:p.Asn558LysfsTer10
NM_001127510.3:c.1674_1680del	NP_001120982.1:p.Asn558LysfsTer10
NM_001127511.3:c.1620_1626del	NP_001120983.2:p.Asn540LysfsTer10
NM_001354895.2:c.1674_1680del	NP_001341824.1:p.Asn558LysfsTer10
NM_001354896.2:c.1728_1734del	NP_001341825.1:p.Asn576LysfsTer10
NM_001354897.2:c.1704_1710del	NP_001341826.1:p.Asn568LysfsTer10
NM_001354898.2:c.1599_1605del	NP_001341827.1:p.Asn533LysfsTer10
NM_001354899.2:c.1590_1596del	NP_001341828.1:p.Asn530LysfsTer10
NM_001354900.2:c.1551_1557del	NP_001341829.1:p.Asn517LysfsTer10
NM_001354901.2:c.1497_1503del	NP_001341830.1:p.Asn499LysfsTer10
NM_001354902.2:c.1401_1407del	NP_001341831.1:p.Asn467LysfsTer10
NM_001354903.2:c.1371_1377del	NP_001341832.1:p.Asn457LysfsTer10
NM_001354904.2:c.1296_1302del	NP_001341833.1:p.Asn432LysfsTer10
NM_001354905.2:c.1194_1200del	NP_001341834.1:p.Asn398LysfsTer10
NM_001354906.2:c.825_831del	NP_001341835.1:p.Asn275LysfsTer10