Canonical Allele Identifier: CA658760763
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2584056
ClinVar RCV Id: RCV003337622

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840246_112840247del , CM000667.2:g.112840246_112840247del GRCh38
NC_000005.9:g.112175943_112175944del , CM000667.1:g.112175943_112175944del GRCh37
NC_000005.8:g.112203842_112203843del NCBI36
NG_008481.4:g.152726_152727del , LRG_130:g.152726_152727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4706_4707del ENSP00000473355.2:p.Lys1569ArgfsTer7
ENST00000505350.2:c.*4658_*4659del ENSP00000481752.1:n.*4658_*4659del
ENST00000507379.6:c.4598_4599del ENSP00000423224.2:p.Lys1533ArgfsTer7
ENST00000509732.6:c.4652_4653del ENSP00000426541.2:p.Lys1551ArgfsTer7
ENST00000512211.7:c.4652_4653del ENSP00000423828.3:p.Lys1551ArgfsTer7
ENST00000257430.9:c.4652_4653del MANE Select ENSP00000257430.4:p.Lys1551ArgfsTer7
ENST00000257430.8:c.4652_4653del ENSP00000257430.4:p.Lys1551ArgfsTer7
ENST00000508376.6:c.4652_4653del ENSP00000427089.2:p.Lys1551ArgfsTer7
ENST00000508624.5:c.*3974_*3975del ENSP00000424265.1:n.*3974_*3975del
ENST00000520401.1:c.230+11274_230+11275del
NM_000038.5:c.4652_4653del NP_000029.2:p.Lys1551ArgfsTer7
NM_001127510.2:c.4652_4653del NP_001120982.1:p.Lys1551ArgfsTer7
NM_001127511.2:c.4598_4599del NP_001120983.2:p.Lys1533ArgfsTer7
NM_001354895.1:c.4652_4653del NP_001341824.1:p.Lys1551ArgfsTer7
NM_001354896.1:c.4706_4707del NP_001341825.1:p.Lys1569ArgfsTer7
NM_001354897.1:c.4682_4683del NP_001341826.1:p.Lys1561ArgfsTer7
NM_001354898.1:c.4577_4578del NP_001341827.1:p.Lys1526ArgfsTer7
NM_001354899.1:c.4568_4569del NP_001341828.1:p.Lys1523ArgfsTer7
NM_001354900.1:c.4529_4530del NP_001341829.1:p.Lys1510ArgfsTer7
NM_001354901.1:c.4475_4476del NP_001341830.1:p.Lys1492ArgfsTer7
NM_001354902.1:c.4379_4380del NP_001341831.1:p.Lys1460ArgfsTer7
NM_001354903.1:c.4349_4350del NP_001341832.1:p.Lys1450ArgfsTer7
NM_001354904.1:c.4274_4275del NP_001341833.1:p.Lys1425ArgfsTer7
NM_001354905.1:c.4172_4173del NP_001341834.1:p.Lys1391ArgfsTer7
NM_001354906.1:c.3803_3804del NP_001341835.1:p.Lys1268ArgfsTer7
NM_000038.6:c.4652_4653del MANE Select NP_000029.2:p.Lys1551ArgfsTer7
NM_001127510.3:c.4652_4653del NP_001120982.1:p.Lys1551ArgfsTer7
NM_001127511.3:c.4598_4599del NP_001120983.2:p.Lys1533ArgfsTer7
NM_001354895.2:c.4652_4653del NP_001341824.1:p.Lys1551ArgfsTer7
NM_001354896.2:c.4706_4707del NP_001341825.1:p.Lys1569ArgfsTer7
NM_001354897.2:c.4682_4683del NP_001341826.1:p.Lys1561ArgfsTer7
NM_001354898.2:c.4577_4578del NP_001341827.1:p.Lys1526ArgfsTer7
NM_001354899.2:c.4568_4569del NP_001341828.1:p.Lys1523ArgfsTer7
NM_001354900.2:c.4529_4530del NP_001341829.1:p.Lys1510ArgfsTer7
NM_001354901.2:c.4475_4476del NP_001341830.1:p.Lys1492ArgfsTer7
NM_001354902.2:c.4379_4380del NP_001341831.1:p.Lys1460ArgfsTer7
NM_001354903.2:c.4349_4350del NP_001341832.1:p.Lys1450ArgfsTer7
NM_001354904.2:c.4274_4275del NP_001341833.1:p.Lys1425ArgfsTer7
NM_001354905.2:c.4172_4173del NP_001341834.1:p.Lys1391ArgfsTer7
NM_001354906.2:c.3803_3804del NP_001341835.1:p.Lys1268ArgfsTer7