Canonical Allele Identifier: CA658760537

Gene: APC

Linked Data

• ClinVar Variation Id: 2203679
• ClinVar RCV Id: RCV002664373 ; RCV003534954
• PubMed: PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819212_112819213del , CM000667.2:g.112819212_112819213del	GRCh38
NC_000005.9:g.112154909_112154910del , CM000667.1:g.112154909_112154910del	GRCh37
NC_000005.8:g.112182808_112182809del	NCBI36
NG_008481.4:g.131692_131693del , LRG_130:g.131692_131693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1180_1181del	ENSP00000484935.2:p.Gln394AlafsTer2
ENST00000504915.3:c.1180_1181del	ENSP00000473355.2:p.Gln394AlafsTer2
ENST00000505084.2:n.1236_1237del
ENST00000505350.2:c.*1186_*1187del	ENSP00000481752.1:n.*1186_*1187del
ENST00000507379.6:c.1126_1127del	ENSP00000423224.2:p.Gln376AlafsTer2
ENST00000509732.6:c.1180_1181del	ENSP00000426541.2:p.Gln394AlafsTer2
ENST00000512211.7:c.1180_1181del	ENSP00000423828.3:p.Gln394AlafsTer2
ENST00000257430.9:c.1180_1181del MANE Select	ENSP00000257430.4:p.Gln394AlafsTer2
ENST00000257430.8:c.1180_1181del	ENSP00000257430.4:p.Gln394AlafsTer2
ENST00000507379.5:c.1126_1127del	ENSP00000423224.1:p.Gln376AlafsTer2
ENST00000508376.6:c.1180_1181del	ENSP00000427089.2:p.Gln394AlafsTer2
ENST00000508624.5:c.*502_*503del	ENSP00000424265.1:n.*502_*503del
ENST00000512211.6:c.1180_1181del	ENSP00000423828.2:p.Gln394AlafsTer2
NM_000038.5:c.1180_1181del	NP_000029.2:p.Gln394AlafsTer2
NM_001127510.2:c.1180_1181del	NP_001120982.1:p.Gln394AlafsTer2
NM_001127511.2:c.1126_1127del	NP_001120983.2:p.Gln376AlafsTer2
NM_001354895.1:c.1180_1181del	NP_001341824.1:p.Gln394AlafsTer2
NM_001354896.1:c.1180_1181del	NP_001341825.1:p.Gln394AlafsTer2
NM_001354897.1:c.1210_1211del	NP_001341826.1:p.Gln404AlafsTer2
NM_001354898.1:c.1105_1106del	NP_001341827.1:p.Gln369AlafsTer2
NM_001354899.1:c.1096_1097del	NP_001341828.1:p.Gln366AlafsTer2
NM_001354900.1:c.1003_1004del	NP_001341829.1:p.Gln335AlafsTer2
NM_001354901.1:c.1003_1004del	NP_001341830.1:p.Gln335AlafsTer2
NM_001354902.1:c.964-57_964-56del	NP_001341831.1:n.964-57_964-56del
NM_001354903.1:c.934-57_934-56del	NP_001341832.1:n.934-57_934-56del
NM_001354904.1:c.859-57_859-56del	NP_001341833.1:n.859-57_859-56del
NM_001354905.1:c.757-57_757-56del	NP_001341834.1:n.757-57_757-56del
NM_001354906.1:c.331_332del	NP_001341835.1:p.Gln111AlafsTer2
NM_000038.6:c.1180_1181del MANE Select	NP_000029.2:p.Gln394AlafsTer2
NM_001127510.3:c.1180_1181del	NP_001120982.1:p.Gln394AlafsTer2
NM_001127511.3:c.1126_1127del	NP_001120983.2:p.Gln376AlafsTer2
NM_001354895.2:c.1180_1181del	NP_001341824.1:p.Gln394AlafsTer2
NM_001354896.2:c.1180_1181del	NP_001341825.1:p.Gln394AlafsTer2
NM_001354897.2:c.1210_1211del	NP_001341826.1:p.Gln404AlafsTer2
NM_001354898.2:c.1105_1106del	NP_001341827.1:p.Gln369AlafsTer2
NM_001354899.2:c.1096_1097del	NP_001341828.1:p.Gln366AlafsTer2
NM_001354900.2:c.1003_1004del	NP_001341829.1:p.Gln335AlafsTer2
NM_001354901.2:c.1003_1004del	NP_001341830.1:p.Gln335AlafsTer2
NM_001354902.2:c.964-57_964-56del	NP_001341831.1:n.964-57_964-56del
NM_001354903.2:c.934-57_934-56del	NP_001341832.1:n.934-57_934-56del
NM_001354904.2:c.859-57_859-56del	NP_001341833.1:n.859-57_859-56del
NM_001354905.2:c.757-57_757-56del	NP_001341834.1:n.757-57_757-56del
NM_001354906.2:c.331_332del	NP_001341835.1:p.Gln111AlafsTer2