Canonical Allele Identifier: CA658760793

Gene: APC

Linked Data

• ClinVar Variation Id: 1711104
• ClinVar RCV Id: RCV002292404
• PubMed: PMID:20223039 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840548del , CM000667.2:g.112840548del	GRCh38
NC_000005.9:g.112176245del , CM000667.1:g.112176245del	GRCh37
NC_000005.8:g.112204144del	NCBI36
NG_008481.4:g.153028del , LRG_130:g.153028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5008del	ENSP00000473355.2:p.Ser1670ProfsTer6
ENST00000505350.2:c.*4960del	ENSP00000481752.1:n.*4960del
ENST00000507379.6:c.4900del	ENSP00000423224.2:p.Ser1634ProfsTer6
ENST00000509732.6:c.4954del	ENSP00000426541.2:p.Ser1652ProfsTer6
ENST00000512211.7:c.4954del	ENSP00000423828.3:p.Ser1652ProfsTer6
ENST00000257430.9:c.4954del MANE Select	ENSP00000257430.4:p.Ser1652ProfsTer6
ENST00000257430.8:c.4954del	ENSP00000257430.4:p.Ser1652ProfsTer6
ENST00000508376.6:c.4954del	ENSP00000427089.2:p.Ser1652ProfsTer6
ENST00000508624.5:c.*4276del	ENSP00000424265.1:n.*4276del
ENST00000520401.1:c.230+11576del
NM_000038.5:c.4954del	NP_000029.2:p.Ser1652ProfsTer6
NM_001127510.2:c.4954del	NP_001120982.1:p.Ser1652ProfsTer6
NM_001127511.2:c.4900del	NP_001120983.2:p.Ser1634ProfsTer6
NM_001354895.1:c.4954del	NP_001341824.1:p.Ser1652ProfsTer6
NM_001354896.1:c.5008del	NP_001341825.1:p.Ser1670ProfsTer6
NM_001354897.1:c.4984del	NP_001341826.1:p.Ser1662ProfsTer6
NM_001354898.1:c.4879del	NP_001341827.1:p.Ser1627ProfsTer6
NM_001354899.1:c.4870del	NP_001341828.1:p.Ser1624ProfsTer6
NM_001354900.1:c.4831del	NP_001341829.1:p.Ser1611ProfsTer6
NM_001354901.1:c.4777del	NP_001341830.1:p.Ser1593ProfsTer6
NM_001354902.1:c.4681del	NP_001341831.1:p.Ser1561ProfsTer6
NM_001354903.1:c.4651del	NP_001341832.1:p.Ser1551ProfsTer6
NM_001354904.1:c.4576del	NP_001341833.1:p.Ser1526ProfsTer6
NM_001354905.1:c.4474del	NP_001341834.1:p.Ser1492ProfsTer6
NM_001354906.1:c.4105del	NP_001341835.1:p.Ser1369ProfsTer6
NM_000038.6:c.4954del MANE Select	NP_000029.2:p.Ser1652ProfsTer6
NM_001127510.3:c.4954del	NP_001120982.1:p.Ser1652ProfsTer6
NM_001127511.3:c.4900del	NP_001120983.2:p.Ser1634ProfsTer6
NM_001354895.2:c.4954del	NP_001341824.1:p.Ser1652ProfsTer6
NM_001354896.2:c.5008del	NP_001341825.1:p.Ser1670ProfsTer6
NM_001354897.2:c.4984del	NP_001341826.1:p.Ser1662ProfsTer6
NM_001354898.2:c.4879del	NP_001341827.1:p.Ser1627ProfsTer6
NM_001354899.2:c.4870del	NP_001341828.1:p.Ser1624ProfsTer6
NM_001354900.2:c.4831del	NP_001341829.1:p.Ser1611ProfsTer6
NM_001354901.2:c.4777del	NP_001341830.1:p.Ser1593ProfsTer6
NM_001354902.2:c.4681del	NP_001341831.1:p.Ser1561ProfsTer6
NM_001354903.2:c.4651del	NP_001341832.1:p.Ser1551ProfsTer6
NM_001354904.2:c.4576del	NP_001341833.1:p.Ser1526ProfsTer6
NM_001354905.2:c.4474del	NP_001341834.1:p.Ser1492ProfsTer6
NM_001354906.2:c.4105del	NP_001341835.1:p.Ser1369ProfsTer6