Canonical Allele Identifier: CA2499217433

Gene: APC

Linked Data

• ClinVar Variation Id: 1071956
• ClinVar RCV Id: RCV003771249
• dbSNP Id: rs2149791774

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821898_112821902del , CM000667.2:g.112821898_112821902del	GRCh38
NC_000005.9:g.112157595_112157599del , CM000667.1:g.112157595_112157599del	GRCh37
NC_000005.8:g.112185494_112185498del	NCBI36
NG_008481.4:g.134378_134382del , LRG_130:g.134378_134382del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1315_1319del	ENSP00000484935.2:p.Pro439SerfsTer3
ENST00000504915.3:c.1315_1319del	ENSP00000473355.2:p.Pro439SerfsTer3
ENST00000505084.2:n.1371_1375del
ENST00000505350.2:c.*1321_*1325del	ENSP00000481752.1:n.*1321_*1325del
ENST00000507379.6:c.1261_1265del	ENSP00000423224.2:p.Pro421SerfsTer3
ENST00000509732.6:c.1315_1319del	ENSP00000426541.2:p.Pro439SerfsTer3
ENST00000512211.7:c.1315_1319del	ENSP00000423828.3:p.Pro439SerfsTer3
ENST00000257430.9:c.1315_1319del MANE Select	ENSP00000257430.4:p.Pro439SerfsTer3
ENST00000257430.8:c.1315_1319del	ENSP00000257430.4:p.Pro439SerfsTer3
ENST00000502371.2:c.3_7del
ENST00000507379.5:c.1261_1265del	ENSP00000423224.1:p.Pro421SerfsTer3
ENST00000508376.6:c.1315_1319del	ENSP00000427089.2:p.Pro439SerfsTer3
ENST00000508624.5:c.*637_*641del	ENSP00000424265.1:n.*637_*641del
ENST00000512211.6:c.1315_1319del	ENSP00000423828.2:p.Pro439SerfsTer3
NM_000038.5:c.1315_1319del	NP_000029.2:p.Pro439SerfsTer3
NM_001127510.2:c.1315_1319del	NP_001120982.1:p.Pro439SerfsTer3
NM_001127511.2:c.1261_1265del	NP_001120983.2:p.Pro421SerfsTer3
NM_001354895.1:c.1315_1319del	NP_001341824.1:p.Pro439SerfsTer3
NM_001354896.1:c.1315_1319del	NP_001341825.1:p.Pro439SerfsTer3
NM_001354897.1:c.1345_1349del	NP_001341826.1:p.Pro449SerfsTer3
NM_001354898.1:c.1240_1244del	NP_001341827.1:p.Pro414SerfsTer3
NM_001354899.1:c.1231_1235del	NP_001341828.1:p.Pro411SerfsTer3
NM_001354900.1:c.1138_1142del	NP_001341829.1:p.Pro380SerfsTer3
NM_001354901.1:c.1138_1142del	NP_001341830.1:p.Pro380SerfsTer3
NM_001354902.1:c.1042_1046del	NP_001341831.1:p.Pro348SerfsTer3
NM_001354903.1:c.1012_1016del	NP_001341832.1:p.Pro338SerfsTer3
NM_001354904.1:c.937_941del	NP_001341833.1:p.Pro313SerfsTer3
NM_001354905.1:c.835_839del	NP_001341834.1:p.Pro279SerfsTer3
NM_001354906.1:c.466_470del	NP_001341835.1:p.Pro156SerfsTer3
NM_000038.6:c.1315_1319del MANE Select	NP_000029.2:p.Pro439SerfsTer3
NM_001127510.3:c.1315_1319del	NP_001120982.1:p.Pro439SerfsTer3
NM_001127511.3:c.1261_1265del	NP_001120983.2:p.Pro421SerfsTer3
NM_001354895.2:c.1315_1319del	NP_001341824.1:p.Pro439SerfsTer3
NM_001354896.2:c.1315_1319del	NP_001341825.1:p.Pro439SerfsTer3
NM_001354897.2:c.1345_1349del	NP_001341826.1:p.Pro449SerfsTer3
NM_001354898.2:c.1240_1244del	NP_001341827.1:p.Pro414SerfsTer3
NM_001354899.2:c.1231_1235del	NP_001341828.1:p.Pro411SerfsTer3
NM_001354900.2:c.1138_1142del	NP_001341829.1:p.Pro380SerfsTer3
NM_001354901.2:c.1138_1142del	NP_001341830.1:p.Pro380SerfsTer3
NM_001354902.2:c.1042_1046del	NP_001341831.1:p.Pro348SerfsTer3
NM_001354903.2:c.1012_1016del	NP_001341832.1:p.Pro338SerfsTer3
NM_001354904.2:c.937_941del	NP_001341833.1:p.Pro313SerfsTer3
NM_001354905.2:c.835_839del	NP_001341834.1:p.Pro279SerfsTer3
NM_001354906.2:c.466_470del	NP_001341835.1:p.Pro156SerfsTer3