Canonical Allele Identifier: CA3054215280
Gene: APC HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828869_112828873del , CM000667.2:g.112828869_112828873del GRCh38
NC_000005.9:g.112164566_112164570del , CM000667.1:g.112164566_112164570del GRCh37
NC_000005.8:g.112192465_112192469del NCBI36
NG_008481.4:g.141349_141353del , LRG_130:g.141349_141353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1409-6082_1409-6078del ENSP00000484935.2:n.1409-6082_1409-6078del
ENST00000504915.3:c.1694_1698del ENSP00000473355.2:p.Val565GlufsTer11
ENST00000505084.2:n.1696_1700del
ENST00000505350.2:c.*1646_*1650del ENSP00000481752.1:n.*1646_*1650del
ENST00000507379.6:c.1586_1590del ENSP00000423224.2:p.Val529GlufsTer11
ENST00000509732.6:c.1640_1644del ENSP00000426541.2:p.Val547GlufsTer11
ENST00000512211.7:c.1640_1644del ENSP00000423828.3:p.Val547GlufsTer11
ENST00000257430.9:c.1640_1644del MANE Select ENSP00000257430.4:p.Val547GlufsTer11
ENST00000257430.8:c.1640_1644del ENSP00000257430.4:p.Val547GlufsTer11
ENST00000502371.2:c.97-6082_97-6078del
ENST00000504915.2:c.329_333del ENSP00000473355.1:p.Val110GlufsTer11
ENST00000505084.1:n.127_131del
ENST00000507379.5:c.1586_1590del ENSP00000423224.1:p.Val529GlufsTer11
ENST00000508376.6:c.1640_1644del ENSP00000427089.2:p.Val547GlufsTer11
ENST00000508624.5:c.*962_*966del ENSP00000424265.1:n.*962_*966del
ENST00000512211.6:c.1640_1644del ENSP00000423828.2:p.Val547GlufsTer11
ENST00000520401.1:c.127_131del
NM_000038.5:c.1640_1644del NP_000029.2:p.Val547GlufsTer11
NM_001127510.2:c.1640_1644del NP_001120982.1:p.Val547GlufsTer11
NM_001127511.2:c.1586_1590del NP_001120983.2:p.Val529GlufsTer11
NM_001354895.1:c.1640_1644del NP_001341824.1:p.Val547GlufsTer11
NM_001354896.1:c.1694_1698del NP_001341825.1:p.Val565GlufsTer11
NM_001354897.1:c.1670_1674del NP_001341826.1:p.Val557GlufsTer11
NM_001354898.1:c.1565_1569del NP_001341827.1:p.Val522GlufsTer11
NM_001354899.1:c.1556_1560del NP_001341828.1:p.Val519GlufsTer11
NM_001354900.1:c.1517_1521del NP_001341829.1:p.Val506GlufsTer11
NM_001354901.1:c.1463_1467del NP_001341830.1:p.Val488GlufsTer11
NM_001354902.1:c.1367_1371del NP_001341831.1:p.Val456GlufsTer11
NM_001354903.1:c.1337_1341del NP_001341832.1:p.Val446GlufsTer11
NM_001354904.1:c.1262_1266del NP_001341833.1:p.Val421GlufsTer11
NM_001354905.1:c.1160_1164del NP_001341834.1:p.Val387GlufsTer11
NM_001354906.1:c.791_795del NP_001341835.1:p.Val264GlufsTer11
NM_000038.6:c.1640_1644del MANE Select NP_000029.2:p.Val547GlufsTer11
NM_001127510.3:c.1640_1644del NP_001120982.1:p.Val547GlufsTer11
NM_001127511.3:c.1586_1590del NP_001120983.2:p.Val529GlufsTer11
NM_001354895.2:c.1640_1644del NP_001341824.1:p.Val547GlufsTer11
NM_001354896.2:c.1694_1698del NP_001341825.1:p.Val565GlufsTer11
NM_001354897.2:c.1670_1674del NP_001341826.1:p.Val557GlufsTer11
NM_001354898.2:c.1565_1569del NP_001341827.1:p.Val522GlufsTer11
NM_001354899.2:c.1556_1560del NP_001341828.1:p.Val519GlufsTer11
NM_001354900.2:c.1517_1521del NP_001341829.1:p.Val506GlufsTer11
NM_001354901.2:c.1463_1467del NP_001341830.1:p.Val488GlufsTer11
NM_001354902.2:c.1367_1371del NP_001341831.1:p.Val456GlufsTer11
NM_001354903.2:c.1337_1341del NP_001341832.1:p.Val446GlufsTer11
NM_001354904.2:c.1262_1266del NP_001341833.1:p.Val421GlufsTer11
NM_001354905.2:c.1160_1164del NP_001341834.1:p.Val387GlufsTer11
NM_001354906.2:c.791_795del NP_001341835.1:p.Val264GlufsTer11