Canonical Allele Identifier: CA16611662
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411539
ClinVar RCV Id: RCV002323747 RCV002526461 RCV003651890
dbSNP Id: rs1060503362
MyVariant Identifiers: chr5:g.112174477_112174478del (hg19) chr5:g.112838780_112838781del (hg38)
PubMed: PMID:9341879 PMID:14961559 PMID:16134147 PMID:20223039 PMID:20685668
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838780_112838781del , CM000667.2:g.112838780_112838781del GRCh38
NC_000005.9:g.112174477_112174478del , CM000667.1:g.112174477_112174478del GRCh37
NC_000005.8:g.112202376_112202377del NCBI36
NG_008481.4:g.151260_151261del , LRG_130:g.151260_151261del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.2851_2852del ENSP00000484935.2:n.2851_2852del
ENST00000504915.3:c.3240_3241del ENSP00000473355.2:p.Ser1081Ter
ENST00000505350.2:c.*3192_*3193del ENSP00000481752.1:n.*3192_*3193del
ENST00000507379.6:c.3132_3133del ENSP00000423224.2:p.Ser1045Ter
ENST00000509732.6:c.3186_3187del ENSP00000426541.2:p.Ser1063Ter
ENST00000512211.7:c.3186_3187del ENSP00000423828.3:p.Ser1063Ter
ENST00000257430.9:c.3186_3187del MANE Select ENSP00000257430.4:p.Ser1063Ter
ENST00000257430.8:c.3186_3187del ENSP00000257430.4:p.Ser1063Ter
ENST00000502371.2:c.1539_1540del
ENST00000507379.5:c.3132_3133del ENSP00000423224.1:p.Ser1045Ter
ENST00000508376.6:c.3186_3187del ENSP00000427089.2:p.Ser1063Ter
ENST00000508624.5:c.*2508_*2509del ENSP00000424265.1:n.*2508_*2509del
ENST00000512211.6:c.3186_3187del ENSP00000423828.2:p.Ser1063Ter
ENST00000520401.1:c.230+9808_230+9809del
NM_000038.5:c.3186_3187del NP_000029.2:p.Ser1063Ter
NM_001127510.2:c.3186_3187del NP_001120982.1:p.Ser1063Ter
NM_001127511.2:c.3132_3133del NP_001120983.2:p.Ser1045Ter
NM_001354895.1:c.3186_3187del NP_001341824.1:p.Ser1063Ter
NM_001354896.1:c.3240_3241del NP_001341825.1:p.Ser1081Ter
NM_001354897.1:c.3216_3217del NP_001341826.1:p.Ser1073Ter
NM_001354898.1:c.3111_3112del NP_001341827.1:p.Ser1038Ter
NM_001354899.1:c.3102_3103del NP_001341828.1:p.Ser1035Ter
NM_001354900.1:c.3063_3064del NP_001341829.1:p.Ser1022Ter
NM_001354901.1:c.3009_3010del NP_001341830.1:p.Ser1004Ter
NM_001354902.1:c.2913_2914del NP_001341831.1:p.Ser972Ter
NM_001354903.1:c.2883_2884del NP_001341832.1:p.Ser962Ter
NM_001354904.1:c.2808_2809del NP_001341833.1:p.Ser937Ter
NM_001354905.1:c.2706_2707del NP_001341834.1:p.Ser903Ter
NM_001354906.1:c.2337_2338del NP_001341835.1:p.Ser780Ter
NM_000038.6:c.3186_3187del MANE Select NP_000029.2:p.Ser1063Ter
NM_001127510.3:c.3186_3187del NP_001120982.1:p.Ser1063Ter
NM_001127511.3:c.3132_3133del NP_001120983.2:p.Ser1045Ter
NM_001354895.2:c.3186_3187del NP_001341824.1:p.Ser1063Ter
NM_001354896.2:c.3240_3241del NP_001341825.1:p.Ser1081Ter
NM_001354897.2:c.3216_3217del NP_001341826.1:p.Ser1073Ter
NM_001354898.2:c.3111_3112del NP_001341827.1:p.Ser1038Ter
NM_001354899.2:c.3102_3103del NP_001341828.1:p.Ser1035Ter
NM_001354900.2:c.3063_3064del NP_001341829.1:p.Ser1022Ter
NM_001354901.2:c.3009_3010del NP_001341830.1:p.Ser1004Ter
NM_001354902.2:c.2913_2914del NP_001341831.1:p.Ser972Ter
NM_001354903.2:c.2883_2884del NP_001341832.1:p.Ser962Ter
NM_001354904.2:c.2808_2809del NP_001341833.1:p.Ser937Ter
NM_001354905.2:c.2706_2707del NP_001341834.1:p.Ser903Ter
NM_001354906.2:c.2337_2338del NP_001341835.1:p.Ser780Ter
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