Canonical Allele Identifier: CA16611758
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411346
ClinVar RCV Id: RCV002230455
dbSNP Id: rs1060503263
MyVariant Identifiers: chr5:g.112151231_112151237del (hg19) chr5:g.112815534_112815540del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112815534_112815540del , CM000667.2:g.112815534_112815540del GRCh38
NC_000005.9:g.112151231_112151237del , CM000667.1:g.112151231_112151237del GRCh37
NC_000005.8:g.112179130_112179136del NCBI36
NG_008481.4:g.128014_128020del , LRG_130:g.128014_128020del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.874_880del ENSP00000484935.2:p.Ser293ValfsTer10
ENST00000504915.3:c.874_880del ENSP00000473355.2:p.Ser293ValfsTer10
ENST00000505084.2:n.930_936del
ENST00000505350.2:c.*880_*886del ENSP00000481752.1:n.*880_*886del
ENST00000507379.6:c.820_826del ENSP00000423224.2:p.Ser275ValfsTer10
ENST00000509732.6:c.874_880del ENSP00000426541.2:p.Ser293ValfsTer10
ENST00000512211.7:c.874_880del ENSP00000423828.3:p.Ser293ValfsTer10
ENST00000257430.9:c.874_880del MANE Select ENSP00000257430.4:p.Ser293ValfsTer10
ENST00000257430.8:c.874_880del ENSP00000257430.4:p.Ser293ValfsTer10
ENST00000507379.5:c.820_826del ENSP00000423224.1:p.Ser275ValfsTer10
ENST00000508376.6:c.874_880del ENSP00000427089.2:p.Ser293ValfsTer10
ENST00000508624.5:c.*196_*202del ENSP00000424265.1:n.*196_*202del
ENST00000512211.6:c.874_880del ENSP00000423828.2:p.Ser293ValfsTer10
NM_000038.5:c.874_880del NP_000029.2:p.Ser293ValfsTer10
NM_001127510.2:c.874_880del NP_001120982.1:p.Ser293ValfsTer10
NM_001127511.2:c.820_826del NP_001120983.2:p.Ser275ValfsTer10
NM_001354895.1:c.874_880del NP_001341824.1:p.Ser293ValfsTer10
NM_001354896.1:c.874_880del NP_001341825.1:p.Ser293ValfsTer10
NM_001354897.1:c.904_910del NP_001341826.1:p.Ser303ValfsTer10
NM_001354898.1:c.799_805del NP_001341827.1:p.Ser268ValfsTer10
NM_001354899.1:c.790_796del NP_001341828.1:p.Ser265ValfsTer10
NM_001354900.1:c.697_703del NP_001341829.1:p.Ser234ValfsTer10
NM_001354901.1:c.697_703del NP_001341830.1:p.Ser234ValfsTer10
NM_001354902.1:c.904_910del NP_001341831.1:p.Ser303ValfsTer10
NM_001354903.1:c.874_880del NP_001341832.1:p.Ser293ValfsTer10
NM_001354904.1:c.799_805del NP_001341833.1:p.Ser268ValfsTer10
NM_001354905.1:c.697_703del NP_001341834.1:p.Ser234ValfsTer10
NM_001354906.1:c.25_31del NP_001341835.1:p.Ser10ValfsTer10
NM_000038.6:c.874_880del MANE Select NP_000029.2:p.Ser293ValfsTer10
NM_001127510.3:c.874_880del NP_001120982.1:p.Ser293ValfsTer10
NM_001127511.3:c.820_826del NP_001120983.2:p.Ser275ValfsTer10
NM_001354895.2:c.874_880del NP_001341824.1:p.Ser293ValfsTer10
NM_001354896.2:c.874_880del NP_001341825.1:p.Ser293ValfsTer10
NM_001354897.2:c.904_910del NP_001341826.1:p.Ser303ValfsTer10
NM_001354898.2:c.799_805del NP_001341827.1:p.Ser268ValfsTer10
NM_001354899.2:c.790_796del NP_001341828.1:p.Ser265ValfsTer10
NM_001354900.2:c.697_703del NP_001341829.1:p.Ser234ValfsTer10
NM_001354901.2:c.697_703del NP_001341830.1:p.Ser234ValfsTer10
NM_001354902.2:c.904_910del NP_001341831.1:p.Ser303ValfsTer10
NM_001354903.2:c.874_880del NP_001341832.1:p.Ser293ValfsTer10
NM_001354904.2:c.799_805del NP_001341833.1:p.Ser268ValfsTer10
NM_001354905.2:c.697_703del NP_001341834.1:p.Ser234ValfsTer10
NM_001354906.2:c.25_31del NP_001341835.1:p.Ser10ValfsTer10
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