Canonical Allele Identifier: CA2825001375
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 3230626
ClinVar RCV Id: RCV004520777

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840677_112840693del , CM000667.2:g.112840677_112840693del GRCh38
NC_000005.9:g.112176374_112176390del , CM000667.1:g.112176374_112176390del GRCh37
NC_000005.8:g.112204273_112204289del NCBI36
NG_008481.4:g.153157_153173del , LRG_130:g.153157_153173del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5137_5153del ENSP00000473355.2:p.Arg1713SerfsTer12
ENST00000505350.2:c.*5089_*5105del ENSP00000481752.1:n.*5089_*5105del
ENST00000507379.6:c.5029_5045del ENSP00000423224.2:p.Arg1677SerfsTer12
ENST00000509732.6:c.5083_5099del ENSP00000426541.2:p.Arg1695SerfsTer12
ENST00000512211.7:c.5083_5099del ENSP00000423828.3:p.Arg1695SerfsTer12
ENST00000257430.9:c.5083_5099del MANE Select ENSP00000257430.4:p.Arg1695SerfsTer12
ENST00000257430.8:c.5083_5099del ENSP00000257430.4:p.Arg1695SerfsTer12
ENST00000508376.6:c.5083_5099del ENSP00000427089.2:p.Arg1695SerfsTer12
ENST00000508624.5:c.*4405_*4421del ENSP00000424265.1:n.*4405_*4421del
ENST00000520401.1:c.230+11705_230+11721del
NM_000038.5:c.5083_5099del NP_000029.2:p.Arg1695SerfsTer12
NM_001127510.2:c.5083_5099del NP_001120982.1:p.Arg1695SerfsTer12
NM_001127511.2:c.5029_5045del NP_001120983.2:p.Arg1677SerfsTer12
NM_001354895.1:c.5083_5099del NP_001341824.1:p.Arg1695SerfsTer12
NM_001354896.1:c.5137_5153del NP_001341825.1:p.Arg1713SerfsTer12
NM_001354897.1:c.5113_5129del NP_001341826.1:p.Arg1705SerfsTer12
NM_001354898.1:c.5008_5024del NP_001341827.1:p.Arg1670SerfsTer12
NM_001354899.1:c.4999_5015del NP_001341828.1:p.Arg1667SerfsTer12
NM_001354900.1:c.4960_4976del NP_001341829.1:p.Arg1654SerfsTer12
NM_001354901.1:c.4906_4922del NP_001341830.1:p.Arg1636SerfsTer12
NM_001354902.1:c.4810_4826del NP_001341831.1:p.Arg1604SerfsTer12
NM_001354903.1:c.4780_4796del NP_001341832.1:p.Arg1594SerfsTer12
NM_001354904.1:c.4705_4721del NP_001341833.1:p.Arg1569SerfsTer12
NM_001354905.1:c.4603_4619del NP_001341834.1:p.Arg1535SerfsTer12
NM_001354906.1:c.4234_4250del NP_001341835.1:p.Arg1412SerfsTer12
NM_000038.6:c.5083_5099del MANE Select NP_000029.2:p.Arg1695SerfsTer12
NM_001127510.3:c.5083_5099del NP_001120982.1:p.Arg1695SerfsTer12
NM_001127511.3:c.5029_5045del NP_001120983.2:p.Arg1677SerfsTer12
NM_001354895.2:c.5083_5099del NP_001341824.1:p.Arg1695SerfsTer12
NM_001354896.2:c.5137_5153del NP_001341825.1:p.Arg1713SerfsTer12
NM_001354897.2:c.5113_5129del NP_001341826.1:p.Arg1705SerfsTer12
NM_001354898.2:c.5008_5024del NP_001341827.1:p.Arg1670SerfsTer12
NM_001354899.2:c.4999_5015del NP_001341828.1:p.Arg1667SerfsTer12
NM_001354900.2:c.4960_4976del NP_001341829.1:p.Arg1654SerfsTer12
NM_001354901.2:c.4906_4922del NP_001341830.1:p.Arg1636SerfsTer12
NM_001354902.2:c.4810_4826del NP_001341831.1:p.Arg1604SerfsTer12
NM_001354903.2:c.4780_4796del NP_001341832.1:p.Arg1594SerfsTer12
NM_001354904.2:c.4705_4721del NP_001341833.1:p.Arg1569SerfsTer12
NM_001354905.2:c.4603_4619del NP_001341834.1:p.Arg1535SerfsTer12
NM_001354906.2:c.4234_4250del NP_001341835.1:p.Arg1412SerfsTer12