Canonical Allele Identifier: CA2499217453
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1075049
ClinVar RCV Id: RCV001388532

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828867del , CM000667.2:g.112828867del GRCh38
NC_000005.9:g.112164564del , CM000667.1:g.112164564del GRCh37
NC_000005.8:g.112192463del NCBI36
NG_008481.4:g.141347del , LRG_130:g.141347del

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1638del MANE Select ENSP00000257430.4:p.Ser546ArgfsTer3
ENST00000257430.8:c.1638del ENSP00000257430.4:p.Ser546ArgfsTer3
ENST00000502371.2:n.97-6084del
ENST00000504915.2:n.327del ENSP00000473355.1:p.Ser109ArgfsTer3
ENST00000505084.1:n.125del
ENST00000507379.5:c.1584del ENSP00000423224.1:p.Ser528ArgfsTer3
ENST00000508376.6:c.1638del ENSP00000427089.2:p.Ser546ArgfsTer3
ENST00000508624.5:c.*960del ENSP00000424265.1:n.*960del
ENST00000512211.6:c.1638del ENSP00000423828.2:p.Ser546ArgfsTer3
ENST00000520401.1:n.125del
NM_000038.5:c.1638del NP_000029.2:p.Ser546ArgfsTer3
NM_001127510.2:c.1638del NP_001120982.1:p.Ser546ArgfsTer3
NM_001127511.2:c.1584del NP_001120983.2:p.Ser528ArgfsTer3
NM_001354895.1:c.1638del NP_001341824.1:p.Ser546ArgfsTer3
NM_001354896.1:c.1692del NP_001341825.1:p.Ser564ArgfsTer3
NM_001354897.1:c.1668del NP_001341826.1:p.Ser556ArgfsTer3
NM_001354898.1:c.1563del NP_001341827.1:p.Ser521ArgfsTer3
NM_001354899.1:c.1554del NP_001341828.1:p.Ser518ArgfsTer3
NM_001354900.1:c.1515del NP_001341829.1:p.Ser505ArgfsTer3
NM_001354901.1:c.1461del NP_001341830.1:p.Ser487ArgfsTer3
NM_001354902.1:c.1365del NP_001341831.1:p.Ser455ArgfsTer3
NM_001354903.1:c.1335del NP_001341832.1:p.Ser445ArgfsTer3
NM_001354904.1:c.1260del NP_001341833.1:p.Ser420ArgfsTer3
NM_001354905.1:c.1158del NP_001341834.1:p.Ser386ArgfsTer3
NM_001354906.1:c.789del NP_001341835.1:p.Ser263ArgfsTer3
NM_000038.6:c.1638del MANE Select NP_000029.2:p.Ser546ArgfsTer3
NM_001127510.3:c.1638del NP_001120982.1:p.Ser546ArgfsTer3
NM_001127511.3:c.1584del NP_001120983.2:p.Ser528ArgfsTer3
NM_001354895.2:c.1638del NP_001341824.1:p.Ser546ArgfsTer3
NM_001354896.2:c.1692del NP_001341825.1:p.Ser564ArgfsTer3
NM_001354897.2:c.1668del NP_001341826.1:p.Ser556ArgfsTer3
NM_001354898.2:c.1563del NP_001341827.1:p.Ser521ArgfsTer3
NM_001354899.2:c.1554del NP_001341828.1:p.Ser518ArgfsTer3
NM_001354900.2:c.1515del NP_001341829.1:p.Ser505ArgfsTer3
NM_001354901.2:c.1461del NP_001341830.1:p.Ser487ArgfsTer3
NM_001354902.2:c.1365del NP_001341831.1:p.Ser455ArgfsTer3
NM_001354903.2:c.1335del NP_001341832.1:p.Ser445ArgfsTer3
NM_001354904.2:c.1260del NP_001341833.1:p.Ser420ArgfsTer3
NM_001354905.2:c.1158del NP_001341834.1:p.Ser386ArgfsTer3
NM_001354906.2:c.789del NP_001341835.1:p.Ser263ArgfsTer3