Canonical Allele Identifier: CA16611772
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 411536
dbSNP Id: rs1060503360

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835086_112835089del , CM000667.2:g.112835086_112835089del GRCh38
NC_000005.9:g.112170783_112170786del , CM000667.1:g.112170783_112170786del GRCh37
NC_000005.8:g.112198682_112198685del NCBI36
NG_008481.4:g.147566_147569del , LRG_130:g.147566_147569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1544_1547del ENSP00000484935.2:n.1544_1547del
ENST00000504915.3:c.1933_1936del ENSP00000473355.2:p.Asn645LeufsTer2
ENST00000505350.2:c.*1885_*1888del ENSP00000481752.1:n.*1885_*1888del
ENST00000507379.6:c.1825_1828del ENSP00000423224.2:p.Asn609LeufsTer2
ENST00000509732.6:c.1879_1882del ENSP00000426541.2:p.Asn627LeufsTer2
ENST00000512211.7:c.1879_1882del ENSP00000423828.3:p.Asn627LeufsTer2
ENST00000257430.9:c.1879_1882del MANE Select ENSP00000257430.4:p.Asn627LeufsTer2
ENST00000257430.8:c.1879_1882del ENSP00000257430.4:p.Asn627LeufsTer2
ENST00000502371.2:c.232_235del
ENST00000504915.2:c.568_571del ENSP00000473355.1:p.Asn190LeufsTer2
ENST00000507379.5:c.1825_1828del ENSP00000423224.1:p.Asn609LeufsTer2
ENST00000508376.6:c.1879_1882del ENSP00000427089.2:p.Asn627LeufsTer2
ENST00000508624.5:c.*1201_*1204del ENSP00000424265.1:n.*1201_*1204del
ENST00000512211.6:c.1879_1882del ENSP00000423828.2:p.Asn627LeufsTer2
ENST00000520401.1:c.230+6114_230+6117del
NM_000038.5:c.1879_1882del NP_000029.2:p.Asn627LeufsTer2
NM_001127510.2:c.1879_1882del NP_001120982.1:p.Asn627LeufsTer2
NM_001127511.2:c.1825_1828del NP_001120983.2:p.Asn609LeufsTer2
NM_001354895.1:c.1879_1882del NP_001341824.1:p.Asn627LeufsTer2
NM_001354896.1:c.1933_1936del NP_001341825.1:p.Asn645LeufsTer2
NM_001354897.1:c.1909_1912del NP_001341826.1:p.Asn637LeufsTer2
NM_001354898.1:c.1804_1807del NP_001341827.1:p.Asn602LeufsTer2
NM_001354899.1:c.1795_1798del NP_001341828.1:p.Asn599LeufsTer2
NM_001354900.1:c.1756_1759del NP_001341829.1:p.Asn586LeufsTer2
NM_001354901.1:c.1702_1705del NP_001341830.1:p.Asn568LeufsTer2
NM_001354902.1:c.1606_1609del NP_001341831.1:p.Asn536LeufsTer2
NM_001354903.1:c.1576_1579del NP_001341832.1:p.Asn526LeufsTer2
NM_001354904.1:c.1501_1504del NP_001341833.1:p.Asn501LeufsTer2
NM_001354905.1:c.1399_1402del NP_001341834.1:p.Asn467LeufsTer2
NM_001354906.1:c.1030_1033del NP_001341835.1:p.Asn344LeufsTer2
NM_000038.6:c.1879_1882del MANE Select NP_000029.2:p.Asn627LeufsTer2
NM_001127510.3:c.1879_1882del NP_001120982.1:p.Asn627LeufsTer2
NM_001127511.3:c.1825_1828del NP_001120983.2:p.Asn609LeufsTer2
NM_001354895.2:c.1879_1882del NP_001341824.1:p.Asn627LeufsTer2
NM_001354896.2:c.1933_1936del NP_001341825.1:p.Asn645LeufsTer2
NM_001354897.2:c.1909_1912del NP_001341826.1:p.Asn637LeufsTer2
NM_001354898.2:c.1804_1807del NP_001341827.1:p.Asn602LeufsTer2
NM_001354899.2:c.1795_1798del NP_001341828.1:p.Asn599LeufsTer2
NM_001354900.2:c.1756_1759del NP_001341829.1:p.Asn586LeufsTer2
NM_001354901.2:c.1702_1705del NP_001341830.1:p.Asn568LeufsTer2
NM_001354902.2:c.1606_1609del NP_001341831.1:p.Asn536LeufsTer2
NM_001354903.2:c.1576_1579del NP_001341832.1:p.Asn526LeufsTer2
NM_001354904.2:c.1501_1504del NP_001341833.1:p.Asn501LeufsTer2
NM_001354905.2:c.1399_1402del NP_001341834.1:p.Asn467LeufsTer2
NM_001354906.2:c.1030_1033del NP_001341835.1:p.Asn344LeufsTer2