Canonical Allele Identifier: CA16611800
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411441
ClinVar RCV Id: RCV002230157
dbSNP Id: rs1060503307

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838504_112838505del , CM000667.2:g.112838504_112838505del GRCh38
NC_000005.9:g.112174201_112174202del , CM000667.1:g.112174201_112174202del GRCh37
NC_000005.8:g.112202100_112202101del NCBI36
NG_008481.4:g.150984_150985del , LRG_130:g.150984_150985del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.2575_2576del ENSP00000484935.2:n.2575_2576del
ENST00000504915.3:c.2964_2965del ENSP00000473355.2:p.Ser988ArgfsTer5
ENST00000505350.2:c.*2916_*2917del ENSP00000481752.1:n.*2916_*2917del
ENST00000507379.6:c.2856_2857del ENSP00000423224.2:p.Ser952ArgfsTer5
ENST00000509732.6:c.2910_2911del ENSP00000426541.2:p.Ser970ArgfsTer5
ENST00000512211.7:c.2910_2911del ENSP00000423828.3:p.Ser970ArgfsTer5
ENST00000257430.9:c.2910_2911del MANE Select ENSP00000257430.4:p.Ser970ArgfsTer5
ENST00000257430.8:c.2910_2911del ENSP00000257430.4:p.Ser970ArgfsTer5
ENST00000502371.2:c.1263_1264del
ENST00000507379.5:c.2856_2857del ENSP00000423224.1:p.Ser952ArgfsTer5
ENST00000508376.6:c.2910_2911del ENSP00000427089.2:p.Ser970ArgfsTer5
ENST00000508624.5:c.*2232_*2233del ENSP00000424265.1:n.*2232_*2233del
ENST00000512211.6:c.2910_2911del ENSP00000423828.2:p.Ser970ArgfsTer5
ENST00000520401.1:c.230+9532_230+9533del
NM_000038.5:c.2910_2911del NP_000029.2:p.Ser970ArgfsTer5
NM_001127510.2:c.2910_2911del NP_001120982.1:p.Ser970ArgfsTer5
NM_001127511.2:c.2856_2857del NP_001120983.2:p.Ser952ArgfsTer5
NM_001354895.1:c.2910_2911del NP_001341824.1:p.Ser970ArgfsTer5
NM_001354896.1:c.2964_2965del NP_001341825.1:p.Ser988ArgfsTer5
NM_001354897.1:c.2940_2941del NP_001341826.1:p.Ser980ArgfsTer5
NM_001354898.1:c.2835_2836del NP_001341827.1:p.Ser945ArgfsTer5
NM_001354899.1:c.2826_2827del NP_001341828.1:p.Ser942ArgfsTer5
NM_001354900.1:c.2787_2788del NP_001341829.1:p.Ser929ArgfsTer5
NM_001354901.1:c.2733_2734del NP_001341830.1:p.Ser911ArgfsTer5
NM_001354902.1:c.2637_2638del NP_001341831.1:p.Ser879ArgfsTer5
NM_001354903.1:c.2607_2608del NP_001341832.1:p.Ser869ArgfsTer5
NM_001354904.1:c.2532_2533del NP_001341833.1:p.Ser844ArgfsTer5
NM_001354905.1:c.2430_2431del NP_001341834.1:p.Ser810ArgfsTer5
NM_001354906.1:c.2061_2062del NP_001341835.1:p.Ser687ArgfsTer5
NM_000038.6:c.2910_2911del MANE Select NP_000029.2:p.Ser970ArgfsTer5
NM_001127510.3:c.2910_2911del NP_001120982.1:p.Ser970ArgfsTer5
NM_001127511.3:c.2856_2857del NP_001120983.2:p.Ser952ArgfsTer5
NM_001354895.2:c.2910_2911del NP_001341824.1:p.Ser970ArgfsTer5
NM_001354896.2:c.2964_2965del NP_001341825.1:p.Ser988ArgfsTer5
NM_001354897.2:c.2940_2941del NP_001341826.1:p.Ser980ArgfsTer5
NM_001354898.2:c.2835_2836del NP_001341827.1:p.Ser945ArgfsTer5
NM_001354899.2:c.2826_2827del NP_001341828.1:p.Ser942ArgfsTer5
NM_001354900.2:c.2787_2788del NP_001341829.1:p.Ser929ArgfsTer5
NM_001354901.2:c.2733_2734del NP_001341830.1:p.Ser911ArgfsTer5
NM_001354902.2:c.2637_2638del NP_001341831.1:p.Ser879ArgfsTer5
NM_001354903.2:c.2607_2608del NP_001341832.1:p.Ser869ArgfsTer5
NM_001354904.2:c.2532_2533del NP_001341833.1:p.Ser844ArgfsTer5
NM_001354905.2:c.2430_2431del NP_001341834.1:p.Ser810ArgfsTer5
NM_001354906.2:c.2061_2062del NP_001341835.1:p.Ser687ArgfsTer5