Canonical Allele Identifier: CA2580613638
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2567052
ClinVar RCV Id: RCV003306881

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840567_112840575del , CM000667.2:g.112840567_112840575del GRCh38
NC_000005.9:g.112176264_112176272del , CM000667.1:g.112176264_112176272del GRCh37
NC_000005.8:g.112204163_112204171del NCBI36
NG_008481.4:g.153047_153055del , LRG_130:g.153047_153055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5027_5035del ENSP00000473355.2:p.Ser1676_Leu1678del
ENST00000505350.2:c.*4979_*4987del ENSP00000481752.1:n.*4979_*4987del
ENST00000507379.6:c.4919_4927del ENSP00000423224.2:p.Ser1640_Leu1642del
ENST00000509732.6:c.4973_4981del ENSP00000426541.2:p.Ser1658_Leu1660del
ENST00000512211.7:c.4973_4981del ENSP00000423828.3:p.Ser1658_Leu1660del
ENST00000257430.9:c.4973_4981del MANE Select ENSP00000257430.4:p.Ser1658_Leu1660del
ENST00000257430.8:c.4973_4981del ENSP00000257430.4:p.Ser1658_Leu1660del
ENST00000508376.6:c.4973_4981del ENSP00000427089.2:p.Ser1658_Leu1660del
ENST00000508624.5:c.*4295_*4303del ENSP00000424265.1:n.*4295_*4303del
ENST00000520401.1:c.230+11595_230+11603del
NM_000038.5:c.4973_4981del NP_000029.2:p.Ser1658_Leu1660del
NM_001127510.2:c.4973_4981del NP_001120982.1:p.Ser1658_Leu1660del
NM_001127511.2:c.4919_4927del NP_001120983.2:p.Ser1640_Leu1642del
NM_001354895.1:c.4973_4981del NP_001341824.1:p.Ser1658_Leu1660del
NM_001354896.1:c.5027_5035del NP_001341825.1:p.Ser1676_Leu1678del
NM_001354897.1:c.5003_5011del NP_001341826.1:p.Ser1668_Leu1670del
NM_001354898.1:c.4898_4906del NP_001341827.1:p.Ser1633_Leu1635del
NM_001354899.1:c.4889_4897del NP_001341828.1:p.Ser1630_Leu1632del
NM_001354900.1:c.4850_4858del NP_001341829.1:p.Ser1617_Leu1619del
NM_001354901.1:c.4796_4804del NP_001341830.1:p.Ser1599_Leu1601del
NM_001354902.1:c.4700_4708del NP_001341831.1:p.Ser1567_Leu1569del
NM_001354903.1:c.4670_4678del NP_001341832.1:p.Ser1557_Leu1559del
NM_001354904.1:c.4595_4603del NP_001341833.1:p.Ser1532_Leu1534del
NM_001354905.1:c.4493_4501del NP_001341834.1:p.Ser1498_Leu1500del
NM_001354906.1:c.4124_4132del NP_001341835.1:p.Ser1375_Leu1377del
NM_000038.6:c.4973_4981del MANE Select NP_000029.2:p.Ser1658_Leu1660del
NM_001127510.3:c.4973_4981del NP_001120982.1:p.Ser1658_Leu1660del
NM_001127511.3:c.4919_4927del NP_001120983.2:p.Ser1640_Leu1642del
NM_001354895.2:c.4973_4981del NP_001341824.1:p.Ser1658_Leu1660del
NM_001354896.2:c.5027_5035del NP_001341825.1:p.Ser1676_Leu1678del
NM_001354897.2:c.5003_5011del NP_001341826.1:p.Ser1668_Leu1670del
NM_001354898.2:c.4898_4906del NP_001341827.1:p.Ser1633_Leu1635del
NM_001354899.2:c.4889_4897del NP_001341828.1:p.Ser1630_Leu1632del
NM_001354900.2:c.4850_4858del NP_001341829.1:p.Ser1617_Leu1619del
NM_001354901.2:c.4796_4804del NP_001341830.1:p.Ser1599_Leu1601del
NM_001354902.2:c.4700_4708del NP_001341831.1:p.Ser1567_Leu1569del
NM_001354903.2:c.4670_4678del NP_001341832.1:p.Ser1557_Leu1559del
NM_001354904.2:c.4595_4603del NP_001341833.1:p.Ser1532_Leu1534del
NM_001354905.2:c.4493_4501del NP_001341834.1:p.Ser1498_Leu1500del
NM_001354906.2:c.4124_4132del NP_001341835.1:p.Ser1375_Leu1377del