Canonical Allele Identifier: CA3046517139
Gene: APC HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828882del , CM000667.2:g.112828882del GRCh38
NC_000005.9:g.112164579del , CM000667.1:g.112164579del GRCh37
NC_000005.8:g.112192478del NCBI36
NG_008481.4:g.141362del , LRG_130:g.141362del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1409-6069del ENSP00000484935.2:n.1409-6069del
ENST00000504915.3:c.1707del ENSP00000473355.2:p.Leu569PhefsTer7
ENST00000505084.2:n.1709del
ENST00000505350.2:c.*1659del ENSP00000481752.1:n.*1659del
ENST00000507379.6:c.1599del ENSP00000423224.2:p.Leu533PhefsTer7
ENST00000509732.6:c.1653del ENSP00000426541.2:p.Leu551PhefsTer7
ENST00000512211.7:c.1653del ENSP00000423828.3:p.Leu551PhefsTer7
ENST00000257430.9:c.1653del MANE Select ENSP00000257430.4:p.Leu551PhefsTer7
ENST00000257430.8:c.1653del ENSP00000257430.4:p.Leu551PhefsTer7
ENST00000502371.2:c.97-6069del
ENST00000504915.2:c.342del ENSP00000473355.1:p.Leu114PhefsTer7
ENST00000505084.1:n.140del
ENST00000507379.5:c.1599del ENSP00000423224.1:p.Leu533PhefsTer7
ENST00000508376.6:c.1653del ENSP00000427089.2:p.Leu551PhefsTer7
ENST00000508624.5:c.*975del ENSP00000424265.1:n.*975del
ENST00000512211.6:c.1653del ENSP00000423828.2:p.Leu551PhefsTer7
ENST00000520401.1:c.140del
NM_000038.5:c.1653del NP_000029.2:p.Leu551PhefsTer7
NM_001127510.2:c.1653del NP_001120982.1:p.Leu551PhefsTer7
NM_001127511.2:c.1599del NP_001120983.2:p.Leu533PhefsTer7
NM_001354895.1:c.1653del NP_001341824.1:p.Leu551PhefsTer7
NM_001354896.1:c.1707del NP_001341825.1:p.Leu569PhefsTer7
NM_001354897.1:c.1683del NP_001341826.1:p.Leu561PhefsTer7
NM_001354898.1:c.1578del NP_001341827.1:p.Leu526PhefsTer7
NM_001354899.1:c.1569del NP_001341828.1:p.Leu523PhefsTer7
NM_001354900.1:c.1530del NP_001341829.1:p.Leu510PhefsTer7
NM_001354901.1:c.1476del NP_001341830.1:p.Leu492PhefsTer7
NM_001354902.1:c.1380del NP_001341831.1:p.Leu460PhefsTer7
NM_001354903.1:c.1350del NP_001341832.1:p.Leu450PhefsTer7
NM_001354904.1:c.1275del NP_001341833.1:p.Leu425PhefsTer7
NM_001354905.1:c.1173del NP_001341834.1:p.Leu391PhefsTer7
NM_001354906.1:c.804del NP_001341835.1:p.Leu268PhefsTer7
NM_000038.6:c.1653del MANE Select NP_000029.2:p.Leu551PhefsTer7
NM_001127510.3:c.1653del NP_001120982.1:p.Leu551PhefsTer7
NM_001127511.3:c.1599del NP_001120983.2:p.Leu533PhefsTer7
NM_001354895.2:c.1653del NP_001341824.1:p.Leu551PhefsTer7
NM_001354896.2:c.1707del NP_001341825.1:p.Leu569PhefsTer7
NM_001354897.2:c.1683del NP_001341826.1:p.Leu561PhefsTer7
NM_001354898.2:c.1578del NP_001341827.1:p.Leu526PhefsTer7
NM_001354899.2:c.1569del NP_001341828.1:p.Leu523PhefsTer7
NM_001354900.2:c.1530del NP_001341829.1:p.Leu510PhefsTer7
NM_001354901.2:c.1476del NP_001341830.1:p.Leu492PhefsTer7
NM_001354902.2:c.1380del NP_001341831.1:p.Leu460PhefsTer7
NM_001354903.2:c.1350del NP_001341832.1:p.Leu450PhefsTer7
NM_001354904.2:c.1275del NP_001341833.1:p.Leu425PhefsTer7
NM_001354905.2:c.1173del NP_001341834.1:p.Leu391PhefsTer7
NM_001354906.2:c.804del NP_001341835.1:p.Leu268PhefsTer7