Canonical Allele Identifier: CA2582341429
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583496
ClinVar RCV Id: RCV003337167

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840904_112840968del , CM000667.2:g.112840904_112840968del GRCh38
NC_000005.9:g.112176601_112176665del , CM000667.1:g.112176601_112176665del GRCh37
NC_000005.8:g.112204500_112204564del NCBI36
NG_008481.4:g.153384_153448del , LRG_130:g.153384_153448del

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.5364_5428del ENSP00000473355.2:p.Lys1789CysfsTer6
ENST00000505350.2:c.*5316_*5380del ENSP00000481752.1:n.*5316_*5380del
ENST00000507379.6:c.5256_5320del ENSP00000423224.2:p.Lys1753CysfsTer6
ENST00000509732.6:c.5310_5374del ENSP00000426541.2:p.Lys1771CysfsTer6
ENST00000512211.7:c.5310_5374del ENSP00000423828.3:p.Lys1771CysfsTer6
ENST00000257430.9:c.5310_5374del MANE Select ENSP00000257430.4:p.Lys1771CysfsTer6
ENST00000257430.8:c.5310_5374del ENSP00000257430.4:p.Lys1771CysfsTer6
ENST00000508376.6:c.5310_5374del ENSP00000427089.2:p.Lys1771CysfsTer6
ENST00000508624.5:c.*4632_*4696del ENSP00000424265.1:n.*4632_*4696del
ENST00000520401.1:c.230+11932_230+11996del
NM_000038.5:c.5310_5374del NP_000029.2:p.Lys1771CysfsTer6
NM_001127510.2:c.5310_5374del NP_001120982.1:p.Lys1771CysfsTer6
NM_001127511.2:c.5256_5320del NP_001120983.2:p.Lys1753CysfsTer6
NM_001354895.1:c.5310_5374del NP_001341824.1:p.Lys1771CysfsTer6
NM_001354896.1:c.5364_5428del NP_001341825.1:p.Lys1789CysfsTer6
NM_001354897.1:c.5340_5404del NP_001341826.1:p.Lys1781CysfsTer6
NM_001354898.1:c.5235_5299del NP_001341827.1:p.Lys1746CysfsTer6
NM_001354899.1:c.5226_5290del NP_001341828.1:p.Lys1743CysfsTer6
NM_001354900.1:c.5187_5251del NP_001341829.1:p.Lys1730CysfsTer6
NM_001354901.1:c.5133_5197del NP_001341830.1:p.Lys1712CysfsTer6
NM_001354902.1:c.5037_5101del NP_001341831.1:p.Lys1680CysfsTer6
NM_001354903.1:c.5007_5071del NP_001341832.1:p.Lys1670CysfsTer6
NM_001354904.1:c.4932_4996del NP_001341833.1:p.Lys1645CysfsTer6
NM_001354905.1:c.4830_4894del NP_001341834.1:p.Lys1611CysfsTer6
NM_001354906.1:c.4461_4525del NP_001341835.1:p.Lys1488CysfsTer6
NM_000038.6:c.5310_5374del MANE Select NP_000029.2:p.Lys1771CysfsTer6
NM_001127510.3:c.5310_5374del NP_001120982.1:p.Lys1771CysfsTer6
NM_001127511.3:c.5256_5320del NP_001120983.2:p.Lys1753CysfsTer6
NM_001354895.2:c.5310_5374del NP_001341824.1:p.Lys1771CysfsTer6
NM_001354896.2:c.5364_5428del NP_001341825.1:p.Lys1789CysfsTer6
NM_001354897.2:c.5340_5404del NP_001341826.1:p.Lys1781CysfsTer6
NM_001354898.2:c.5235_5299del NP_001341827.1:p.Lys1746CysfsTer6
NM_001354899.2:c.5226_5290del NP_001341828.1:p.Lys1743CysfsTer6
NM_001354900.2:c.5187_5251del NP_001341829.1:p.Lys1730CysfsTer6
NM_001354901.2:c.5133_5197del NP_001341830.1:p.Lys1712CysfsTer6
NM_001354902.2:c.5037_5101del NP_001341831.1:p.Lys1680CysfsTer6
NM_001354903.2:c.5007_5071del NP_001341832.1:p.Lys1670CysfsTer6
NM_001354904.2:c.4932_4996del NP_001341833.1:p.Lys1645CysfsTer6
NM_001354905.2:c.4830_4894del NP_001341834.1:p.Lys1611CysfsTer6
NM_001354906.2:c.4461_4525del NP_001341835.1:p.Lys1488CysfsTer6