Canonical Allele Identifier: CA2582341395
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583791
ClinVar RCV Id: RCV003334713

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840502_112840514del , CM000667.2:g.112840502_112840514del GRCh38
NC_000005.9:g.112176199_112176211del , CM000667.1:g.112176199_112176211del GRCh37
NC_000005.8:g.112204098_112204110del NCBI36
NG_008481.4:g.152982_152994del , LRG_130:g.152982_152994del

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.4962_4974del ENSP00000473355.2:p.Asp1654GlufsTer10
ENST00000505350.2:c.*4914_*4926del ENSP00000481752.1:n.*4914_*4926del
ENST00000507379.6:c.4854_4866del ENSP00000423224.2:p.Asp1618GlufsTer10
ENST00000509732.6:c.4908_4920del ENSP00000426541.2:p.Asp1636GlufsTer10
ENST00000512211.7:c.4908_4920del ENSP00000423828.3:p.Asp1636GlufsTer10
ENST00000257430.9:c.4908_4920del MANE Select ENSP00000257430.4:p.Asp1636GlufsTer10
ENST00000257430.8:c.4908_4920del ENSP00000257430.4:p.Asp1636GlufsTer10
ENST00000508376.6:c.4908_4920del ENSP00000427089.2:p.Asp1636GlufsTer10
ENST00000508624.5:c.*4230_*4242del ENSP00000424265.1:n.*4230_*4242del
ENST00000520401.1:c.230+11530_230+11542del
NM_000038.5:c.4908_4920del NP_000029.2:p.Asp1636GlufsTer10
NM_001127510.2:c.4908_4920del NP_001120982.1:p.Asp1636GlufsTer10
NM_001127511.2:c.4854_4866del NP_001120983.2:p.Asp1618GlufsTer10
NM_001354895.1:c.4908_4920del NP_001341824.1:p.Asp1636GlufsTer10
NM_001354896.1:c.4962_4974del NP_001341825.1:p.Asp1654GlufsTer10
NM_001354897.1:c.4938_4950del NP_001341826.1:p.Asp1646GlufsTer10
NM_001354898.1:c.4833_4845del NP_001341827.1:p.Asp1611GlufsTer10
NM_001354899.1:c.4824_4836del NP_001341828.1:p.Asp1608GlufsTer10
NM_001354900.1:c.4785_4797del NP_001341829.1:p.Asp1595GlufsTer10
NM_001354901.1:c.4731_4743del NP_001341830.1:p.Asp1577GlufsTer10
NM_001354902.1:c.4635_4647del NP_001341831.1:p.Asp1545GlufsTer10
NM_001354903.1:c.4605_4617del NP_001341832.1:p.Asp1535GlufsTer10
NM_001354904.1:c.4530_4542del NP_001341833.1:p.Asp1510GlufsTer10
NM_001354905.1:c.4428_4440del NP_001341834.1:p.Asp1476GlufsTer10
NM_001354906.1:c.4059_4071del NP_001341835.1:p.Asp1353GlufsTer10
NM_000038.6:c.4908_4920del MANE Select NP_000029.2:p.Asp1636GlufsTer10
NM_001127510.3:c.4908_4920del NP_001120982.1:p.Asp1636GlufsTer10
NM_001127511.3:c.4854_4866del NP_001120983.2:p.Asp1618GlufsTer10
NM_001354895.2:c.4908_4920del NP_001341824.1:p.Asp1636GlufsTer10
NM_001354896.2:c.4962_4974del NP_001341825.1:p.Asp1654GlufsTer10
NM_001354897.2:c.4938_4950del NP_001341826.1:p.Asp1646GlufsTer10
NM_001354898.2:c.4833_4845del NP_001341827.1:p.Asp1611GlufsTer10
NM_001354899.2:c.4824_4836del NP_001341828.1:p.Asp1608GlufsTer10
NM_001354900.2:c.4785_4797del NP_001341829.1:p.Asp1595GlufsTer10
NM_001354901.2:c.4731_4743del NP_001341830.1:p.Asp1577GlufsTer10
NM_001354902.2:c.4635_4647del NP_001341831.1:p.Asp1545GlufsTer10
NM_001354903.2:c.4605_4617del NP_001341832.1:p.Asp1535GlufsTer10
NM_001354904.2:c.4530_4542del NP_001341833.1:p.Asp1510GlufsTer10
NM_001354905.2:c.4428_4440del NP_001341834.1:p.Asp1476GlufsTer10
NM_001354906.2:c.4059_4071del NP_001341835.1:p.Asp1353GlufsTer10