Canonical Allele Identifier: CA2580073053
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1735281

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839417_112839419del , CM000667.2:g.112839417_112839419del GRCh38
NC_000005.9:g.112175114_112175116del , CM000667.1:g.112175114_112175116del GRCh37
NC_000005.8:g.112203013_112203015del NCBI36
NG_008481.4:g.151897_151899del , LRG_130:g.151897_151899del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.3488_3490del ENSP00000484935.2:n.3488_3490del
ENST00000504915.3:c.3877_3879del ENSP00000473355.2:p.Ser1293del
ENST00000505350.2:c.*3829_*3831del ENSP00000481752.1:n.*3829_*3831del
ENST00000507379.6:c.3769_3771del ENSP00000423224.2:p.Ser1257del
ENST00000509732.6:c.3823_3825del ENSP00000426541.2:p.Ser1275del
ENST00000512211.7:c.3823_3825del ENSP00000423828.3:p.Ser1275del
ENST00000257430.9:c.3823_3825del MANE Select ENSP00000257430.4:p.Ser1275del
ENST00000257430.8:c.3823_3825del ENSP00000257430.4:p.Ser1275del
ENST00000502371.2:c.2176_2178del
ENST00000508376.6:c.3823_3825del ENSP00000427089.2:p.Ser1275del
ENST00000508624.5:c.*3145_*3147del ENSP00000424265.1:n.*3145_*3147del
ENST00000512211.6:c.3823_3825del ENSP00000423828.2:p.Ser1275del
ENST00000520401.1:c.230+10445_230+10447del
NM_000038.5:c.3823_3825del NP_000029.2:p.Ser1275del
NM_001127510.2:c.3823_3825del NP_001120982.1:p.Ser1275del
NM_001127511.2:c.3769_3771del NP_001120983.2:p.Ser1257del
NM_001354895.1:c.3823_3825del NP_001341824.1:p.Ser1275del
NM_001354896.1:c.3877_3879del NP_001341825.1:p.Ser1293del
NM_001354897.1:c.3853_3855del NP_001341826.1:p.Ser1285del
NM_001354898.1:c.3748_3750del NP_001341827.1:p.Ser1250del
NM_001354899.1:c.3739_3741del NP_001341828.1:p.Ser1247del
NM_001354900.1:c.3700_3702del NP_001341829.1:p.Ser1234del
NM_001354901.1:c.3646_3648del NP_001341830.1:p.Ser1216del
NM_001354902.1:c.3550_3552del NP_001341831.1:p.Ser1184del
NM_001354903.1:c.3520_3522del NP_001341832.1:p.Ser1174del
NM_001354904.1:c.3445_3447del NP_001341833.1:p.Ser1149del
NM_001354905.1:c.3343_3345del NP_001341834.1:p.Ser1115del
NM_001354906.1:c.2974_2976del NP_001341835.1:p.Ser992del
NM_000038.6:c.3823_3825del MANE Select NP_000029.2:p.Ser1275del
NM_001127510.3:c.3823_3825del NP_001120982.1:p.Ser1275del
NM_001127511.3:c.3769_3771del NP_001120983.2:p.Ser1257del
NM_001354895.2:c.3823_3825del NP_001341824.1:p.Ser1275del
NM_001354896.2:c.3877_3879del NP_001341825.1:p.Ser1293del
NM_001354897.2:c.3853_3855del NP_001341826.1:p.Ser1285del
NM_001354898.2:c.3748_3750del NP_001341827.1:p.Ser1250del
NM_001354899.2:c.3739_3741del NP_001341828.1:p.Ser1247del
NM_001354900.2:c.3700_3702del NP_001341829.1:p.Ser1234del
NM_001354901.2:c.3646_3648del NP_001341830.1:p.Ser1216del
NM_001354902.2:c.3550_3552del NP_001341831.1:p.Ser1184del
NM_001354903.2:c.3520_3522del NP_001341832.1:p.Ser1174del
NM_001354904.2:c.3445_3447del NP_001341833.1:p.Ser1149del
NM_001354905.2:c.3343_3345del NP_001341834.1:p.Ser1115del
NM_001354906.2:c.2974_2976del NP_001341835.1:p.Ser992del