Canonical Allele Identifier: CA16618084
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 419999
dbSNP Id: rs1064794229

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839514_112839518del , CM000667.2:g.112839514_112839518del GRCh38
NC_000005.9:g.112175211_112175215del , CM000667.1:g.112175211_112175215del GRCh37
NC_000005.8:g.112203110_112203114del NCBI36
NG_008481.4:g.151994_151998del , LRG_130:g.151994_151998del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.3585_3589del ENSP00000484935.2:n.3585_3589del
ENST00000504915.3:c.3974_3978del ENSP00000473355.2:p.Ile1325ArgfsTer6
ENST00000505350.2:c.*3926_*3930del ENSP00000481752.1:n.*3926_*3930del
ENST00000507379.6:c.3866_3870del ENSP00000423224.2:p.Ile1289ArgfsTer6
ENST00000509732.6:c.3920_3924del ENSP00000426541.2:p.Ile1307ArgfsTer6
ENST00000512211.7:c.3920_3924del ENSP00000423828.3:p.Ile1307ArgfsTer6
ENST00000257430.9:c.3920_3924del MANE Select ENSP00000257430.4:p.Ile1307ArgfsTer6
ENST00000257430.8:c.3920_3924del ENSP00000257430.4:p.Ile1307ArgfsTer6
ENST00000502371.2:c.2273_2277del
ENST00000508376.6:c.3920_3924del ENSP00000427089.2:p.Ile1307ArgfsTer6
ENST00000508624.5:c.*3242_*3246del ENSP00000424265.1:n.*3242_*3246del
ENST00000520401.1:c.230+10542_230+10546del
NM_000038.5:c.3920_3924del NP_000029.2:p.Ile1307ArgfsTer6
NM_001127510.2:c.3920_3924del NP_001120982.1:p.Ile1307ArgfsTer6
NM_001127511.2:c.3866_3870del NP_001120983.2:p.Ile1289ArgfsTer6
NM_001354895.1:c.3920_3924del NP_001341824.1:p.Ile1307ArgfsTer6
NM_001354896.1:c.3974_3978del NP_001341825.1:p.Ile1325ArgfsTer6
NM_001354897.1:c.3950_3954del NP_001341826.1:p.Ile1317ArgfsTer6
NM_001354898.1:c.3845_3849del NP_001341827.1:p.Ile1282ArgfsTer6
NM_001354899.1:c.3836_3840del NP_001341828.1:p.Ile1279ArgfsTer6
NM_001354900.1:c.3797_3801del NP_001341829.1:p.Ile1266ArgfsTer6
NM_001354901.1:c.3743_3747del NP_001341830.1:p.Ile1248ArgfsTer6
NM_001354902.1:c.3647_3651del NP_001341831.1:p.Ile1216ArgfsTer6
NM_001354903.1:c.3617_3621del NP_001341832.1:p.Ile1206ArgfsTer6
NM_001354904.1:c.3542_3546del NP_001341833.1:p.Ile1181ArgfsTer6
NM_001354905.1:c.3440_3444del NP_001341834.1:p.Ile1147ArgfsTer6
NM_001354906.1:c.3071_3075del NP_001341835.1:p.Ile1024ArgfsTer6
NM_000038.6:c.3920_3924del MANE Select NP_000029.2:p.Ile1307ArgfsTer6
NM_001127510.3:c.3920_3924del NP_001120982.1:p.Ile1307ArgfsTer6
NM_001127511.3:c.3866_3870del NP_001120983.2:p.Ile1289ArgfsTer6
NM_001354895.2:c.3920_3924del NP_001341824.1:p.Ile1307ArgfsTer6
NM_001354896.2:c.3974_3978del NP_001341825.1:p.Ile1325ArgfsTer6
NM_001354897.2:c.3950_3954del NP_001341826.1:p.Ile1317ArgfsTer6
NM_001354898.2:c.3845_3849del NP_001341827.1:p.Ile1282ArgfsTer6
NM_001354899.2:c.3836_3840del NP_001341828.1:p.Ile1279ArgfsTer6
NM_001354900.2:c.3797_3801del NP_001341829.1:p.Ile1266ArgfsTer6
NM_001354901.2:c.3743_3747del NP_001341830.1:p.Ile1248ArgfsTer6
NM_001354902.2:c.3647_3651del NP_001341831.1:p.Ile1216ArgfsTer6
NM_001354903.2:c.3617_3621del NP_001341832.1:p.Ile1206ArgfsTer6
NM_001354904.2:c.3542_3546del NP_001341833.1:p.Ile1181ArgfsTer6
NM_001354905.2:c.3440_3444del NP_001341834.1:p.Ile1147ArgfsTer6
NM_001354906.2:c.3071_3075del NP_001341835.1:p.Ile1024ArgfsTer6