Canonical Allele Identifier: CA2580072573
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1743208
ClinVar RCV Id: RCV002337891

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840396del , CM000667.2:g.112840396del GRCh38
NC_000005.9:g.112176093del , CM000667.1:g.112176093del GRCh37
NC_000005.8:g.112203992del NCBI36
NG_008481.4:g.152876del , LRG_130:g.152876del

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.4856del ENSP00000473355.2:p.Leu1619TyrfsTer?
ENST00000505350.2:c.*4808del ENSP00000481752.1:n.*4808del
ENST00000507379.6:c.4748del ENSP00000423224.2:p.Leu1583TyrfsTer?
ENST00000509732.6:c.4802del ENSP00000426541.2:p.Leu1601TyrfsTer?
ENST00000512211.7:c.4802del ENSP00000423828.3:p.Leu1601TyrfsTer?
ENST00000257430.9:c.4802del MANE Select ENSP00000257430.4:p.Leu1601TyrfsTer?
ENST00000257430.8:c.4802del ENSP00000257430.4:p.Leu1601TyrfsTer?
ENST00000508376.6:c.4802del ENSP00000427089.2:p.Leu1601TyrfsTer?
ENST00000508624.5:c.*4124del ENSP00000424265.1:n.*4124del
ENST00000520401.1:c.230+11424del
NM_000038.5:c.4802del NP_000029.2:p.Leu1601TyrfsTer?
NM_001127510.2:c.4802del NP_001120982.1:p.Leu1601TyrfsTer?
NM_001127511.2:c.4748del NP_001120983.2:p.Leu1583TyrfsTer?
NM_001354895.1:c.4802del NP_001341824.1:p.Leu1601TyrfsTer?
NM_001354896.1:c.4856del NP_001341825.1:p.Leu1619TyrfsTer?
NM_001354897.1:c.4832del NP_001341826.1:p.Leu1611TyrfsTer?
NM_001354898.1:c.4727del NP_001341827.1:p.Leu1576TyrfsTer?
NM_001354899.1:c.4718del NP_001341828.1:p.Leu1573TyrfsTer?
NM_001354900.1:c.4679del NP_001341829.1:p.Leu1560TyrfsTer?
NM_001354901.1:c.4625del NP_001341830.1:p.Leu1542TyrfsTer?
NM_001354902.1:c.4529del NP_001341831.1:p.Leu1510TyrfsTer?
NM_001354903.1:c.4499del NP_001341832.1:p.Leu1500TyrfsTer?
NM_001354904.1:c.4424del NP_001341833.1:p.Leu1475TyrfsTer?
NM_001354905.1:c.4322del NP_001341834.1:p.Leu1441TyrfsTer?
NM_001354906.1:c.3953del NP_001341835.1:p.Leu1318TyrfsTer?
NM_000038.6:c.4802del MANE Select NP_000029.2:p.Leu1601TyrfsTer?
NM_001127510.3:c.4802del NP_001120982.1:p.Leu1601TyrfsTer?
NM_001127511.3:c.4748del NP_001120983.2:p.Leu1583TyrfsTer?
NM_001354895.2:c.4802del NP_001341824.1:p.Leu1601TyrfsTer?
NM_001354896.2:c.4856del NP_001341825.1:p.Leu1619TyrfsTer?
NM_001354897.2:c.4832del NP_001341826.1:p.Leu1611TyrfsTer?
NM_001354898.2:c.4727del NP_001341827.1:p.Leu1576TyrfsTer?
NM_001354899.2:c.4718del NP_001341828.1:p.Leu1573TyrfsTer?
NM_001354900.2:c.4679del NP_001341829.1:p.Leu1560TyrfsTer?
NM_001354901.2:c.4625del NP_001341830.1:p.Leu1542TyrfsTer?
NM_001354902.2:c.4529del NP_001341831.1:p.Leu1510TyrfsTer?
NM_001354903.2:c.4499del NP_001341832.1:p.Leu1500TyrfsTer?
NM_001354904.2:c.4424del NP_001341833.1:p.Leu1475TyrfsTer?
NM_001354905.2:c.4322del NP_001341834.1:p.Leu1441TyrfsTer?
NM_001354906.2:c.3953del NP_001341835.1:p.Leu1318TyrfsTer?