Canonical Allele Identifier: CA2739273273
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2825108
ClinVar RCV Id: RCV003744230

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839613_112839614dup , CM000667.2:g.112839613_112839614dup GRCh38
NC_000005.9:g.112175310_112175311dup , CM000667.1:g.112175310_112175311dup GRCh37
NC_000005.8:g.112203209_112203210dup NCBI36
NG_008481.4:g.152093_152094dup , LRG_130:g.152093_152094dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.3684_3685dup ENSP00000484935.2:n.3684_3685dup
ENST00000504915.3:c.4073_4074dup ENSP00000473355.2:p.Ser1359LeufsTer?
ENST00000505350.2:c.*4025_*4026dup ENSP00000481752.1:n.*4025_*4026dup
ENST00000507379.6:c.3965_3966dup ENSP00000423224.2:p.Ser1323LeufsTer?
ENST00000509732.6:c.4019_4020dup ENSP00000426541.2:p.Ser1341LeufsTer?
ENST00000512211.7:c.4019_4020dup ENSP00000423828.3:p.Ser1341LeufsTer?
ENST00000257430.9:c.4019_4020dup MANE Select ENSP00000257430.4:p.Ser1341LeufsTer?
ENST00000257430.8:c.4019_4020dup ENSP00000257430.4:p.Ser1341LeufsTer?
ENST00000502371.2:c.2372_2373dup
ENST00000508376.6:c.4019_4020dup ENSP00000427089.2:p.Ser1341LeufsTer?
ENST00000508624.5:c.*3341_*3342dup ENSP00000424265.1:n.*3341_*3342dup
ENST00000520401.1:c.230+10641_230+10642dup
NM_000038.5:c.4019_4020dup NP_000029.2:p.Ser1341LeufsTer?
NM_001127510.2:c.4019_4020dup NP_001120982.1:p.Ser1341LeufsTer?
NM_001127511.2:c.3965_3966dup NP_001120983.2:p.Ser1323LeufsTer?
NM_001354895.1:c.4019_4020dup NP_001341824.1:p.Ser1341LeufsTer?
NM_001354896.1:c.4073_4074dup NP_001341825.1:p.Ser1359LeufsTer?
NM_001354897.1:c.4049_4050dup NP_001341826.1:p.Ser1351LeufsTer?
NM_001354898.1:c.3944_3945dup NP_001341827.1:p.Ser1316LeufsTer?
NM_001354899.1:c.3935_3936dup NP_001341828.1:p.Ser1313LeufsTer?
NM_001354900.1:c.3896_3897dup NP_001341829.1:p.Ser1300LeufsTer?
NM_001354901.1:c.3842_3843dup NP_001341830.1:p.Ser1282LeufsTer?
NM_001354902.1:c.3746_3747dup NP_001341831.1:p.Ser1250LeufsTer?
NM_001354903.1:c.3716_3717dup NP_001341832.1:p.Ser1240LeufsTer?
NM_001354904.1:c.3641_3642dup NP_001341833.1:p.Ser1215LeufsTer?
NM_001354905.1:c.3539_3540dup NP_001341834.1:p.Ser1181LeufsTer?
NM_001354906.1:c.3170_3171dup NP_001341835.1:p.Ser1058LeufsTer?
NM_000038.6:c.4019_4020dup MANE Select NP_000029.2:p.Ser1341LeufsTer?
NM_001127510.3:c.4019_4020dup NP_001120982.1:p.Ser1341LeufsTer?
NM_001127511.3:c.3965_3966dup NP_001120983.2:p.Ser1323LeufsTer?
NM_001354895.2:c.4019_4020dup NP_001341824.1:p.Ser1341LeufsTer?
NM_001354896.2:c.4073_4074dup NP_001341825.1:p.Ser1359LeufsTer?
NM_001354897.2:c.4049_4050dup NP_001341826.1:p.Ser1351LeufsTer?
NM_001354898.2:c.3944_3945dup NP_001341827.1:p.Ser1316LeufsTer?
NM_001354899.2:c.3935_3936dup NP_001341828.1:p.Ser1313LeufsTer?
NM_001354900.2:c.3896_3897dup NP_001341829.1:p.Ser1300LeufsTer?
NM_001354901.2:c.3842_3843dup NP_001341830.1:p.Ser1282LeufsTer?
NM_001354902.2:c.3746_3747dup NP_001341831.1:p.Ser1250LeufsTer?
NM_001354903.2:c.3716_3717dup NP_001341832.1:p.Ser1240LeufsTer?
NM_001354904.2:c.3641_3642dup NP_001341833.1:p.Ser1215LeufsTer?
NM_001354905.2:c.3539_3540dup NP_001341834.1:p.Ser1181LeufsTer?
NM_001354906.2:c.3170_3171dup NP_001341835.1:p.Ser1058LeufsTer?