Canonical Allele Identifier: CA279738
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 217953
ClinVar RCV Id: RCV000202122
dbSNP Id: rs863225331

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838353del , CM000667.2:g.112838353del GRCh38
NC_000005.9:g.112174050del , CM000667.1:g.112174050del GRCh37
NC_000005.8:g.112201949del NCBI36
NG_008481.4:g.150833del , LRG_130:g.150833del

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.2424del ENSP00000484935.2:n.2424del
ENST00000504915.3:c.2813del ENSP00000473355.2:p.Asn938MetfsTer?
ENST00000505350.2:c.*2765del ENSP00000481752.1:n.*2765del
ENST00000507379.6:c.2705del ENSP00000423224.2:p.Asn902MetfsTer?
ENST00000509732.6:c.2759del ENSP00000426541.2:p.Asn920MetfsTer?
ENST00000512211.7:c.2759del ENSP00000423828.3:p.Asn920MetfsTer?
ENST00000257430.9:c.2759del MANE Select ENSP00000257430.4:p.Asn920MetfsTer?
ENST00000257430.8:c.2759del ENSP00000257430.4:p.Asn920MetfsTer?
ENST00000502371.2:c.1112del
ENST00000507379.5:c.2705del ENSP00000423224.1:p.Asn902MetfsTer?
ENST00000508376.6:c.2759del ENSP00000427089.2:p.Asn920MetfsTer?
ENST00000508624.5:c.*2081del ENSP00000424265.1:n.*2081del
ENST00000512211.6:c.2759del ENSP00000423828.2:p.Asn920MetfsTer?
ENST00000520401.1:c.230+9381del
NM_000038.5:c.2759del NP_000029.2:p.Asn920MetfsTer?
NM_001127510.2:c.2759del NP_001120982.1:p.Asn920MetfsTer?
NM_001127511.2:c.2705del NP_001120983.2:p.Asn902MetfsTer?
NM_001354895.1:c.2759del NP_001341824.1:p.Asn920MetfsTer?
NM_001354896.1:c.2813del NP_001341825.1:p.Asn938MetfsTer?
NM_001354897.1:c.2789del NP_001341826.1:p.Asn930MetfsTer?
NM_001354898.1:c.2684del NP_001341827.1:p.Asn895MetfsTer?
NM_001354899.1:c.2675del NP_001341828.1:p.Asn892MetfsTer?
NM_001354900.1:c.2636del NP_001341829.1:p.Asn879MetfsTer?
NM_001354901.1:c.2582del NP_001341830.1:p.Asn861MetfsTer?
NM_001354902.1:c.2486del NP_001341831.1:p.Asn829MetfsTer?
NM_001354903.1:c.2456del NP_001341832.1:p.Asn819MetfsTer?
NM_001354904.1:c.2381del NP_001341833.1:p.Asn794MetfsTer?
NM_001354905.1:c.2279del NP_001341834.1:p.Asn760MetfsTer?
NM_001354906.1:c.1910del NP_001341835.1:p.Asn637MetfsTer?
NM_000038.6:c.2759del MANE Select NP_000029.2:p.Asn920MetfsTer?
NM_001127510.3:c.2759del NP_001120982.1:p.Asn920MetfsTer?
NM_001127511.3:c.2705del NP_001120983.2:p.Asn902MetfsTer?
NM_001354895.2:c.2759del NP_001341824.1:p.Asn920MetfsTer?
NM_001354896.2:c.2813del NP_001341825.1:p.Asn938MetfsTer?
NM_001354897.2:c.2789del NP_001341826.1:p.Asn930MetfsTer?
NM_001354898.2:c.2684del NP_001341827.1:p.Asn895MetfsTer?
NM_001354899.2:c.2675del NP_001341828.1:p.Asn892MetfsTer?
NM_001354900.2:c.2636del NP_001341829.1:p.Asn879MetfsTer?
NM_001354901.2:c.2582del NP_001341830.1:p.Asn861MetfsTer?
NM_001354902.2:c.2486del NP_001341831.1:p.Asn829MetfsTer?
NM_001354903.2:c.2456del NP_001341832.1:p.Asn819MetfsTer?
NM_001354904.2:c.2381del NP_001341833.1:p.Asn794MetfsTer?
NM_001354905.2:c.2279del NP_001341834.1:p.Asn760MetfsTer?
NM_001354906.2:c.1910del NP_001341835.1:p.Asn637MetfsTer?