Canonical Allele Identifier: CA2697546395
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2708907
ClinVar RCV Id: RCV003536501

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112815534_112815535del , CM000667.2:g.112815534_112815535del GRCh38
NC_000005.9:g.112151231_112151232del , CM000667.1:g.112151231_112151232del GRCh37
NC_000005.8:g.112179130_112179131del NCBI36
NG_008481.4:g.128014_128015del , LRG_130:g.128014_128015del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.874_875del ENSP00000484935.2:p.Leu292GlufsTer3
ENST00000504915.3:c.874_875del ENSP00000473355.2:p.Leu292GlufsTer3
ENST00000505084.2:n.930_931del
ENST00000505350.2:c.*880_*881del ENSP00000481752.1:n.*880_*881del
ENST00000507379.6:c.820_821del ENSP00000423224.2:p.Leu274GlufsTer3
ENST00000509732.6:c.874_875del ENSP00000426541.2:p.Leu292GlufsTer3
ENST00000512211.7:c.874_875del ENSP00000423828.3:p.Leu292GlufsTer3
ENST00000257430.9:c.874_875del MANE Select ENSP00000257430.4:p.Leu292GlufsTer3
ENST00000257430.8:c.874_875del ENSP00000257430.4:p.Leu292GlufsTer3
ENST00000507379.5:c.820_821del ENSP00000423224.1:p.Leu274GlufsTer3
ENST00000508376.6:c.874_875del ENSP00000427089.2:p.Leu292GlufsTer3
ENST00000508624.5:c.*196_*197del ENSP00000424265.1:n.*196_*197del
ENST00000512211.6:c.874_875del ENSP00000423828.2:p.Leu292GlufsTer3
NM_000038.5:c.874_875del NP_000029.2:p.Leu292GlufsTer3
NM_001127510.2:c.874_875del NP_001120982.1:p.Leu292GlufsTer3
NM_001127511.2:c.820_821del NP_001120983.2:p.Leu274GlufsTer3
NM_001354895.1:c.874_875del NP_001341824.1:p.Leu292GlufsTer3
NM_001354896.1:c.874_875del NP_001341825.1:p.Leu292GlufsTer3
NM_001354897.1:c.904_905del NP_001341826.1:p.Leu302GlufsTer3
NM_001354898.1:c.799_800del NP_001341827.1:p.Leu267GlufsTer3
NM_001354899.1:c.790_791del NP_001341828.1:p.Leu264GlufsTer3
NM_001354900.1:c.697_698del NP_001341829.1:p.Leu233GlufsTer3
NM_001354901.1:c.697_698del NP_001341830.1:p.Leu233GlufsTer3
NM_001354902.1:c.904_905del NP_001341831.1:p.Leu302GlufsTer3
NM_001354903.1:c.874_875del NP_001341832.1:p.Leu292GlufsTer3
NM_001354904.1:c.799_800del NP_001341833.1:p.Leu267GlufsTer3
NM_001354905.1:c.697_698del NP_001341834.1:p.Leu233GlufsTer3
NM_001354906.1:c.25_26del NP_001341835.1:p.Leu9GlufsTer3
NM_000038.6:c.874_875del MANE Select NP_000029.2:p.Leu292GlufsTer3
NM_001127510.3:c.874_875del NP_001120982.1:p.Leu292GlufsTer3
NM_001127511.3:c.820_821del NP_001120983.2:p.Leu274GlufsTer3
NM_001354895.2:c.874_875del NP_001341824.1:p.Leu292GlufsTer3
NM_001354896.2:c.874_875del NP_001341825.1:p.Leu292GlufsTer3
NM_001354897.2:c.904_905del NP_001341826.1:p.Leu302GlufsTer3
NM_001354898.2:c.799_800del NP_001341827.1:p.Leu267GlufsTer3
NM_001354899.2:c.790_791del NP_001341828.1:p.Leu264GlufsTer3
NM_001354900.2:c.697_698del NP_001341829.1:p.Leu233GlufsTer3
NM_001354901.2:c.697_698del NP_001341830.1:p.Leu233GlufsTer3
NM_001354902.2:c.904_905del NP_001341831.1:p.Leu302GlufsTer3
NM_001354903.2:c.874_875del NP_001341832.1:p.Leu292GlufsTer3
NM_001354904.2:c.799_800del NP_001341833.1:p.Leu267GlufsTer3
NM_001354905.2:c.697_698del NP_001341834.1:p.Leu233GlufsTer3
NM_001354906.2:c.25_26del NP_001341835.1:p.Leu9GlufsTer3