Canonical Allele Identifier: CA2582341547
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583511
ClinVar RCV Id: RCV003337182

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839615del , CM000667.2:g.112839615del GRCh38
NC_000005.9:g.112175312del , CM000667.1:g.112175312del GRCh37
NC_000005.8:g.112203211del NCBI36
NG_008481.4:g.152095del , LRG_130:g.152095del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.3686del ENSP00000484935.2:n.3686del
ENST00000504915.3:c.4075del ENSP00000473355.2:p.Ser1359ValfsTer?
ENST00000505350.2:c.*4027del ENSP00000481752.1:n.*4027del
ENST00000507379.6:c.3967del ENSP00000423224.2:p.Ser1323ValfsTer?
ENST00000509732.6:c.4021del ENSP00000426541.2:p.Ser1341ValfsTer?
ENST00000512211.7:c.4021del ENSP00000423828.3:p.Ser1341ValfsTer?
ENST00000257430.9:c.4021del MANE Select ENSP00000257430.4:p.Ser1341ValfsTer?
ENST00000257430.8:c.4021del ENSP00000257430.4:p.Ser1341ValfsTer?
ENST00000502371.2:c.2374del
ENST00000508376.6:c.4021del ENSP00000427089.2:p.Ser1341ValfsTer?
ENST00000508624.5:c.*3343del ENSP00000424265.1:n.*3343del
ENST00000520401.1:c.230+10643del
NM_000038.5:c.4021del NP_000029.2:p.Ser1341ValfsTer?
NM_001127510.2:c.4021del NP_001120982.1:p.Ser1341ValfsTer?
NM_001127511.2:c.3967del NP_001120983.2:p.Ser1323ValfsTer?
NM_001354895.1:c.4021del NP_001341824.1:p.Ser1341ValfsTer?
NM_001354896.1:c.4075del NP_001341825.1:p.Ser1359ValfsTer?
NM_001354897.1:c.4051del NP_001341826.1:p.Ser1351ValfsTer?
NM_001354898.1:c.3946del NP_001341827.1:p.Ser1316ValfsTer?
NM_001354899.1:c.3937del NP_001341828.1:p.Ser1313ValfsTer?
NM_001354900.1:c.3898del NP_001341829.1:p.Ser1300ValfsTer?
NM_001354901.1:c.3844del NP_001341830.1:p.Ser1282ValfsTer?
NM_001354902.1:c.3748del NP_001341831.1:p.Ser1250ValfsTer?
NM_001354903.1:c.3718del NP_001341832.1:p.Ser1240ValfsTer?
NM_001354904.1:c.3643del NP_001341833.1:p.Ser1215ValfsTer?
NM_001354905.1:c.3541del NP_001341834.1:p.Ser1181ValfsTer?
NM_001354906.1:c.3172del NP_001341835.1:p.Ser1058ValfsTer?
NM_000038.6:c.4021del MANE Select NP_000029.2:p.Ser1341ValfsTer?
NM_001127510.3:c.4021del NP_001120982.1:p.Ser1341ValfsTer?
NM_001127511.3:c.3967del NP_001120983.2:p.Ser1323ValfsTer?
NM_001354895.2:c.4021del NP_001341824.1:p.Ser1341ValfsTer?
NM_001354896.2:c.4075del NP_001341825.1:p.Ser1359ValfsTer?
NM_001354897.2:c.4051del NP_001341826.1:p.Ser1351ValfsTer?
NM_001354898.2:c.3946del NP_001341827.1:p.Ser1316ValfsTer?
NM_001354899.2:c.3937del NP_001341828.1:p.Ser1313ValfsTer?
NM_001354900.2:c.3898del NP_001341829.1:p.Ser1300ValfsTer?
NM_001354901.2:c.3844del NP_001341830.1:p.Ser1282ValfsTer?
NM_001354902.2:c.3748del NP_001341831.1:p.Ser1250ValfsTer?
NM_001354903.2:c.3718del NP_001341832.1:p.Ser1240ValfsTer?
NM_001354904.2:c.3643del NP_001341833.1:p.Ser1215ValfsTer?
NM_001354905.2:c.3541del NP_001341834.1:p.Ser1181ValfsTer?
NM_001354906.2:c.3172del NP_001341835.1:p.Ser1058ValfsTer?