Canonical Allele Identifier: CA16611810
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411475
ClinVar RCV Id: RCV001567918 RCV002230555 RCV002460078
dbSNP Id: rs1060503326
COSMIC: COSM5010238
MyVariant Identifiers: chr5:g.112174868_112174869del (hg19) chr5:g.112839171_112839172del (hg38)
PubMed: PMID:8730280 PMID:9950360 PMID:18433509 PMID:20223039
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839171_112839172del , CM000667.2:g.112839171_112839172del GRCh38
NC_000005.9:g.112174868_112174869del , CM000667.1:g.112174868_112174869del GRCh37
NC_000005.8:g.112202767_112202768del NCBI36
NG_008481.4:g.151651_151652del , LRG_130:g.151651_151652del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.3242_3243del ENSP00000484935.2:n.3242_3243del
ENST00000504915.3:c.3631_3632del ENSP00000473355.2:p.Gln1211ValfsTer14
ENST00000505350.2:c.*3583_*3584del ENSP00000481752.1:n.*3583_*3584del
ENST00000507379.6:c.3523_3524del ENSP00000423224.2:p.Gln1175ValfsTer14
ENST00000509732.6:c.3577_3578del ENSP00000426541.2:p.Gln1193ValfsTer14
ENST00000512211.7:c.3577_3578del ENSP00000423828.3:p.Gln1193ValfsTer14
ENST00000257430.9:c.3577_3578del MANE Select ENSP00000257430.4:p.Gln1193ValfsTer14
ENST00000257430.8:c.3577_3578del ENSP00000257430.4:p.Gln1193ValfsTer14
ENST00000502371.2:c.1930_1931del
ENST00000508376.6:c.3577_3578del ENSP00000427089.2:p.Gln1193ValfsTer14
ENST00000508624.5:c.*2899_*2900del ENSP00000424265.1:n.*2899_*2900del
ENST00000512211.6:c.3577_3578del ENSP00000423828.2:p.Gln1193ValfsTer14
ENST00000520401.1:c.230+10199_230+10200del
NM_000038.5:c.3577_3578del NP_000029.2:p.Gln1193ValfsTer14
NM_001127510.2:c.3577_3578del NP_001120982.1:p.Gln1193ValfsTer14
NM_001127511.2:c.3523_3524del NP_001120983.2:p.Gln1175ValfsTer14
NM_001354895.1:c.3577_3578del NP_001341824.1:p.Gln1193ValfsTer14
NM_001354896.1:c.3631_3632del NP_001341825.1:p.Gln1211ValfsTer14
NM_001354897.1:c.3607_3608del NP_001341826.1:p.Gln1203ValfsTer14
NM_001354898.1:c.3502_3503del NP_001341827.1:p.Gln1168ValfsTer14
NM_001354899.1:c.3493_3494del NP_001341828.1:p.Gln1165ValfsTer14
NM_001354900.1:c.3454_3455del NP_001341829.1:p.Gln1152ValfsTer14
NM_001354901.1:c.3400_3401del NP_001341830.1:p.Gln1134ValfsTer14
NM_001354902.1:c.3304_3305del NP_001341831.1:p.Gln1102ValfsTer14
NM_001354903.1:c.3274_3275del NP_001341832.1:p.Gln1092ValfsTer14
NM_001354904.1:c.3199_3200del NP_001341833.1:p.Gln1067ValfsTer14
NM_001354905.1:c.3097_3098del NP_001341834.1:p.Gln1033ValfsTer14
NM_001354906.1:c.2728_2729del NP_001341835.1:p.Gln910ValfsTer14
NM_000038.6:c.3577_3578del MANE Select NP_000029.2:p.Gln1193ValfsTer14
NM_001127510.3:c.3577_3578del NP_001120982.1:p.Gln1193ValfsTer14
NM_001127511.3:c.3523_3524del NP_001120983.2:p.Gln1175ValfsTer14
NM_001354895.2:c.3577_3578del NP_001341824.1:p.Gln1193ValfsTer14
NM_001354896.2:c.3631_3632del NP_001341825.1:p.Gln1211ValfsTer14
NM_001354897.2:c.3607_3608del NP_001341826.1:p.Gln1203ValfsTer14
NM_001354898.2:c.3502_3503del NP_001341827.1:p.Gln1168ValfsTer14
NM_001354899.2:c.3493_3494del NP_001341828.1:p.Gln1165ValfsTer14
NM_001354900.2:c.3454_3455del NP_001341829.1:p.Gln1152ValfsTer14
NM_001354901.2:c.3400_3401del NP_001341830.1:p.Gln1134ValfsTer14
NM_001354902.2:c.3304_3305del NP_001341831.1:p.Gln1102ValfsTer14
NM_001354903.2:c.3274_3275del NP_001341832.1:p.Gln1092ValfsTer14
NM_001354904.2:c.3199_3200del NP_001341833.1:p.Gln1067ValfsTer14
NM_001354905.2:c.3097_3098del NP_001341834.1:p.Gln1033ValfsTer14
NM_001354906.2:c.2728_2729del NP_001341835.1:p.Gln910ValfsTer14
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