Canonical Allele Identifier: CA2582341625
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583460
ClinVar RCV Id: RCV003337131

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843022del , CM000667.2:g.112843022del GRCh38
NC_000005.9:g.112178719del , CM000667.1:g.112178719del GRCh37
NC_000005.8:g.112206618del NCBI36
NG_008481.4:g.155502del , LRG_130:g.155502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7482del ENSP00000473355.2:p.Arg2494SerfsTer9
ENST00000505350.2:c.*7434del ENSP00000481752.1:n.*7434del
ENST00000507379.6:c.7374del ENSP00000423224.2:p.Arg2458SerfsTer9
ENST00000509732.6:c.7428del ENSP00000426541.2:p.Arg2476SerfsTer9
ENST00000512211.7:c.7428del ENSP00000423828.3:p.Arg2476SerfsTer9
ENST00000257430.9:c.7428del MANE Select ENSP00000257430.4:p.Arg2476SerfsTer9
ENST00000257430.8:c.7428del ENSP00000257430.4:p.Arg2476SerfsTer9
ENST00000508376.6:c.7428del ENSP00000427089.2:p.Arg2476SerfsTer9
ENST00000520401.1:c.231-13627del
NM_000038.5:c.7428del NP_000029.2:p.Arg2476SerfsTer9
NM_001127510.2:c.7428del NP_001120982.1:p.Arg2476SerfsTer9
NM_001127511.2:c.7374del NP_001120983.2:p.Arg2458SerfsTer9
NM_001354895.1:c.7428del NP_001341824.1:p.Arg2476SerfsTer9
NM_001354896.1:c.7482del NP_001341825.1:p.Arg2494SerfsTer9
NM_001354897.1:c.7458del NP_001341826.1:p.Arg2486SerfsTer9
NM_001354898.1:c.7353del NP_001341827.1:p.Arg2451SerfsTer9
NM_001354899.1:c.7344del NP_001341828.1:p.Arg2448SerfsTer9
NM_001354900.1:c.7305del NP_001341829.1:p.Arg2435SerfsTer9
NM_001354901.1:c.7251del NP_001341830.1:p.Arg2417SerfsTer9
NM_001354902.1:c.7155del NP_001341831.1:p.Arg2385SerfsTer9
NM_001354903.1:c.7125del NP_001341832.1:p.Arg2375SerfsTer9
NM_001354904.1:c.7050del NP_001341833.1:p.Arg2350SerfsTer9
NM_001354905.1:c.6948del NP_001341834.1:p.Arg2316SerfsTer9
NM_001354906.1:c.6579del NP_001341835.1:p.Arg2193SerfsTer9
NM_000038.6:c.7428del MANE Select NP_000029.2:p.Arg2476SerfsTer9
NM_001127510.3:c.7428del NP_001120982.1:p.Arg2476SerfsTer9
NM_001127511.3:c.7374del NP_001120983.2:p.Arg2458SerfsTer9
NM_001354895.2:c.7428del NP_001341824.1:p.Arg2476SerfsTer9
NM_001354896.2:c.7482del NP_001341825.1:p.Arg2494SerfsTer9
NM_001354897.2:c.7458del NP_001341826.1:p.Arg2486SerfsTer9
NM_001354898.2:c.7353del NP_001341827.1:p.Arg2451SerfsTer9
NM_001354899.2:c.7344del NP_001341828.1:p.Arg2448SerfsTer9
NM_001354900.2:c.7305del NP_001341829.1:p.Arg2435SerfsTer9
NM_001354901.2:c.7251del NP_001341830.1:p.Arg2417SerfsTer9
NM_001354902.2:c.7155del NP_001341831.1:p.Arg2385SerfsTer9
NM_001354903.2:c.7125del NP_001341832.1:p.Arg2375SerfsTer9
NM_001354904.2:c.7050del NP_001341833.1:p.Arg2350SerfsTer9
NM_001354905.2:c.6948del NP_001341834.1:p.Arg2316SerfsTer9
NM_001354906.2:c.6579del NP_001341835.1:p.Arg2193SerfsTer9