Canonical Allele Identifier: CA2739272572
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2811788
ClinVar RCV Id: RCV003744067

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841509_112842085del , CM000667.2:g.112841509_112842085del GRCh38
NC_000005.9:g.112177206_112177782del , CM000667.1:g.112177206_112177782del GRCh37
NC_000005.8:g.112205105_112205681del NCBI36
NG_008481.4:g.153989_154565del , LRG_130:g.153989_154565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5969_6545del ENSP00000473355.2:p.Leu1990ProfsTer5
ENST00000505350.2:c.*5921_*6497del ENSP00000481752.1:n.*5921_*6497del
ENST00000507379.6:c.5861_6437del ENSP00000423224.2:p.Leu1954ProfsTer5
ENST00000509732.6:c.5915_6491del ENSP00000426541.2:p.Leu1972ProfsTer5
ENST00000512211.7:c.5915_6491del ENSP00000423828.3:p.Leu1972ProfsTer5
ENST00000257430.9:c.5915_6491del MANE Select ENSP00000257430.4:p.Leu1972ProfsTer5
ENST00000257430.8:c.5915_6491del ENSP00000257430.4:p.Leu1972ProfsTer5
ENST00000508376.6:c.5915_6491del ENSP00000427089.2:p.Leu1972ProfsTer5
ENST00000508624.5:c.*5237_*5813del ENSP00000424265.1:n.*5237_*5813del
ENST00000520401.1:c.230+12537_230+13113del
NM_000038.5:c.5915_6491del NP_000029.2:p.Leu1972ProfsTer5
NM_001127510.2:c.5915_6491del NP_001120982.1:p.Leu1972ProfsTer5
NM_001127511.2:c.5861_6437del NP_001120983.2:p.Leu1954ProfsTer5
NM_001354895.1:c.5915_6491del NP_001341824.1:p.Leu1972ProfsTer5
NM_001354896.1:c.5969_6545del NP_001341825.1:p.Leu1990ProfsTer5
NM_001354897.1:c.5945_6521del NP_001341826.1:p.Leu1982ProfsTer5
NM_001354898.1:c.5840_6416del NP_001341827.1:p.Leu1947ProfsTer5
NM_001354899.1:c.5831_6407del NP_001341828.1:p.Leu1944ProfsTer5
NM_001354900.1:c.5792_6368del NP_001341829.1:p.Leu1931ProfsTer5
NM_001354901.1:c.5738_6314del NP_001341830.1:p.Leu1913ProfsTer5
NM_001354902.1:c.5642_6218del NP_001341831.1:p.Leu1881ProfsTer5
NM_001354903.1:c.5612_6188del NP_001341832.1:p.Leu1871ProfsTer5
NM_001354904.1:c.5537_6113del NP_001341833.1:p.Leu1846ProfsTer5
NM_001354905.1:c.5435_6011del NP_001341834.1:p.Leu1812ProfsTer5
NM_001354906.1:c.5066_5642del NP_001341835.1:p.Leu1689ProfsTer5
NM_000038.6:c.5915_6491del MANE Select NP_000029.2:p.Leu1972ProfsTer5
NM_001127510.3:c.5915_6491del NP_001120982.1:p.Leu1972ProfsTer5
NM_001127511.3:c.5861_6437del NP_001120983.2:p.Leu1954ProfsTer5
NM_001354895.2:c.5915_6491del NP_001341824.1:p.Leu1972ProfsTer5
NM_001354896.2:c.5969_6545del NP_001341825.1:p.Leu1990ProfsTer5
NM_001354897.2:c.5945_6521del NP_001341826.1:p.Leu1982ProfsTer5
NM_001354898.2:c.5840_6416del NP_001341827.1:p.Leu1947ProfsTer5
NM_001354899.2:c.5831_6407del NP_001341828.1:p.Leu1944ProfsTer5
NM_001354900.2:c.5792_6368del NP_001341829.1:p.Leu1931ProfsTer5
NM_001354901.2:c.5738_6314del NP_001341830.1:p.Leu1913ProfsTer5
NM_001354902.2:c.5642_6218del NP_001341831.1:p.Leu1881ProfsTer5
NM_001354903.2:c.5612_6188del NP_001341832.1:p.Leu1871ProfsTer5
NM_001354904.2:c.5537_6113del NP_001341833.1:p.Leu1846ProfsTer5
NM_001354905.2:c.5435_6011del NP_001341834.1:p.Leu1812ProfsTer5
NM_001354906.2:c.5066_5642del NP_001341835.1:p.Leu1689ProfsTer5