Canonical Allele Identifier: CA2580072948
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1731124
ClinVar RCV Id: RCV002452130

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839000_112839017dup , CM000667.2:g.112839000_112839017dup GRCh38
NC_000005.9:g.112174697_112174714dup , CM000667.1:g.112174697_112174714dup GRCh37
NC_000005.8:g.112202596_112202613dup NCBI36
NG_008481.4:g.151480_151497dup , LRG_130:g.151480_151497dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.3071_3088dup ENSP00000484935.2:n.3071_3088dup
ENST00000504915.3:c.3460_3477dup ENSP00000473355.2:p.Thr1159_Asn1160insGluAspAspLysProThr
ENST00000505350.2:c.*3412_*3429dup ENSP00000481752.1:n.*3412_*3429dup
ENST00000507379.6:c.3352_3369dup ENSP00000423224.2:p.Thr1123_Asn1124insGluAspAspLysProThr
ENST00000509732.6:c.3406_3423dup ENSP00000426541.2:p.Thr1141_Asn1142insGluAspAspLysProThr
ENST00000512211.7:c.3406_3423dup ENSP00000423828.3:p.Thr1141_Asn1142insGluAspAspLysProThr
ENST00000257430.9:c.3406_3423dup MANE Select ENSP00000257430.4:p.Thr1141_Asn1142insGluAspAspLysProThr
ENST00000257430.8:c.3406_3423dup ENSP00000257430.4:p.Thr1141_Asn1142insGluAspAspLysProThr
ENST00000502371.2:c.1759_1776dup
ENST00000507379.5:c.3352_3369dup ENSP00000423224.1:p.Thr1123_Asn1124insGluAspAspLysProThr
ENST00000508376.6:c.3406_3423dup ENSP00000427089.2:p.Thr1141_Asn1142insGluAspAspLysProThr
ENST00000508624.5:c.*2728_*2745dup ENSP00000424265.1:n.*2728_*2745dup
ENST00000512211.6:c.3406_3423dup ENSP00000423828.2:p.Thr1141_Asn1142insGluAspAspLysProThr
ENST00000520401.1:c.230+10028_230+10045dup
NM_000038.5:c.3406_3423dup NP_000029.2:p.Thr1141_Asn1142insGluAspAspLysProThr
NM_001127510.2:c.3406_3423dup NP_001120982.1:p.Thr1141_Asn1142insGluAspAspLysProThr
NM_001127511.2:c.3352_3369dup NP_001120983.2:p.Thr1123_Asn1124insGluAspAspLysProThr
NM_001354895.1:c.3406_3423dup NP_001341824.1:p.Thr1141_Asn1142insGluAspAspLysProThr
NM_001354896.1:c.3460_3477dup NP_001341825.1:p.Thr1159_Asn1160insGluAspAspLysProThr
NM_001354897.1:c.3436_3453dup NP_001341826.1:p.Thr1151_Asn1152insGluAspAspLysProThr
NM_001354898.1:c.3331_3348dup NP_001341827.1:p.Thr1116_Asn1117insGluAspAspLysProThr
NM_001354899.1:c.3322_3339dup NP_001341828.1:p.Thr1113_Asn1114insGluAspAspLysProThr
NM_001354900.1:c.3283_3300dup NP_001341829.1:p.Thr1100_Asn1101insGluAspAspLysProThr
NM_001354901.1:c.3229_3246dup NP_001341830.1:p.Thr1082_Asn1083insGluAspAspLysProThr
NM_001354902.1:c.3133_3150dup NP_001341831.1:p.Thr1050_Asn1051insGluAspAspLysProThr
NM_001354903.1:c.3103_3120dup NP_001341832.1:p.Thr1040_Asn1041insGluAspAspLysProThr
NM_001354904.1:c.3028_3045dup NP_001341833.1:p.Thr1015_Asn1016insGluAspAspLysProThr
NM_001354905.1:c.2926_2943dup NP_001341834.1:p.Thr981_Asn982insGluAspAspLysProThr
NM_001354906.1:c.2557_2574dup NP_001341835.1:p.Thr858_Asn859insGluAspAspLysProThr
NM_000038.6:c.3406_3423dup MANE Select NP_000029.2:p.Thr1141_Asn1142insGluAspAspLysProThr
NM_001127510.3:c.3406_3423dup NP_001120982.1:p.Thr1141_Asn1142insGluAspAspLysProThr
NM_001127511.3:c.3352_3369dup NP_001120983.2:p.Thr1123_Asn1124insGluAspAspLysProThr
NM_001354895.2:c.3406_3423dup NP_001341824.1:p.Thr1141_Asn1142insGluAspAspLysProThr
NM_001354896.2:c.3460_3477dup NP_001341825.1:p.Thr1159_Asn1160insGluAspAspLysProThr
NM_001354897.2:c.3436_3453dup NP_001341826.1:p.Thr1151_Asn1152insGluAspAspLysProThr
NM_001354898.2:c.3331_3348dup NP_001341827.1:p.Thr1116_Asn1117insGluAspAspLysProThr
NM_001354899.2:c.3322_3339dup NP_001341828.1:p.Thr1113_Asn1114insGluAspAspLysProThr
NM_001354900.2:c.3283_3300dup NP_001341829.1:p.Thr1100_Asn1101insGluAspAspLysProThr
NM_001354901.2:c.3229_3246dup NP_001341830.1:p.Thr1082_Asn1083insGluAspAspLysProThr
NM_001354902.2:c.3133_3150dup NP_001341831.1:p.Thr1050_Asn1051insGluAspAspLysProThr
NM_001354903.2:c.3103_3120dup NP_001341832.1:p.Thr1040_Asn1041insGluAspAspLysProThr
NM_001354904.2:c.3028_3045dup NP_001341833.1:p.Thr1015_Asn1016insGluAspAspLysProThr
NM_001354905.2:c.2926_2943dup NP_001341834.1:p.Thr981_Asn982insGluAspAspLysProThr
NM_001354906.2:c.2557_2574dup NP_001341835.1:p.Thr858_Asn859insGluAspAspLysProThr