Canonical Allele Identifier: CA2582341423
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2583990
ClinVar RCV Id: RCV003334912

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840847_112840852delinsTT , CM000667.2:g.112840847_112840852delinsTT GRCh38
NC_000005.9:g.112176544_112176549delinsTT , CM000667.1:g.112176544_112176549delinsTT GRCh37
NC_000005.8:g.112204443_112204448delinsTT NCBI36
NG_008481.4:g.153327_153332delinsTT , LRG_130:g.153327_153332delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5307_5312delinsTT ENSP00000473355.2:p.Gln1769HisfsTer14
ENST00000505350.2:c.*5259_*5264delinsTT ENSP00000481752.1:n.*5259_*5264delinsTT
ENST00000507379.6:c.5199_5204delinsTT ENSP00000423224.2:p.Gln1733HisfsTer14
ENST00000509732.6:c.5253_5258delinsTT ENSP00000426541.2:p.Gln1751HisfsTer14
ENST00000512211.7:c.5253_5258delinsTT ENSP00000423828.3:p.Gln1751HisfsTer14
ENST00000257430.9:c.5253_5258delinsTT MANE Select ENSP00000257430.4:p.Gln1751HisfsTer14
ENST00000257430.8:c.5253_5258delinsTT ENSP00000257430.4:p.Gln1751HisfsTer14
ENST00000508376.6:c.5253_5258delinsTT ENSP00000427089.2:p.Gln1751HisfsTer14
ENST00000508624.5:c.*4575_*4580delinsTT ENSP00000424265.1:n.*4575_*4580delinsTT
ENST00000520401.1:c.230+11875_230+11880delinsTT
NM_000038.5:c.5253_5258delinsTT NP_000029.2:p.Gln1751HisfsTer14
NM_001127510.2:c.5253_5258delinsTT NP_001120982.1:p.Gln1751HisfsTer14
NM_001127511.2:c.5199_5204delinsTT NP_001120983.2:p.Gln1733HisfsTer14
NM_001354895.1:c.5253_5258delinsTT NP_001341824.1:p.Gln1751HisfsTer14
NM_001354896.1:c.5307_5312delinsTT NP_001341825.1:p.Gln1769HisfsTer14
NM_001354897.1:c.5283_5288delinsTT NP_001341826.1:p.Gln1761HisfsTer14
NM_001354898.1:c.5178_5183delinsTT NP_001341827.1:p.Gln1726HisfsTer14
NM_001354899.1:c.5169_5174delinsTT NP_001341828.1:p.Gln1723HisfsTer14
NM_001354900.1:c.5130_5135delinsTT NP_001341829.1:p.Gln1710HisfsTer14
NM_001354901.1:c.5076_5081delinsTT NP_001341830.1:p.Gln1692HisfsTer14
NM_001354902.1:c.4980_4985delinsTT NP_001341831.1:p.Gln1660HisfsTer14
NM_001354903.1:c.4950_4955delinsTT NP_001341832.1:p.Gln1650HisfsTer14
NM_001354904.1:c.4875_4880delinsTT NP_001341833.1:p.Gln1625HisfsTer14
NM_001354905.1:c.4773_4778delinsTT NP_001341834.1:p.Gln1591HisfsTer14
NM_001354906.1:c.4404_4409delinsTT NP_001341835.1:p.Gln1468HisfsTer14
NM_000038.6:c.5253_5258delinsTT MANE Select NP_000029.2:p.Gln1751HisfsTer14
NM_001127510.3:c.5253_5258delinsTT NP_001120982.1:p.Gln1751HisfsTer14
NM_001127511.3:c.5199_5204delinsTT NP_001120983.2:p.Gln1733HisfsTer14
NM_001354895.2:c.5253_5258delinsTT NP_001341824.1:p.Gln1751HisfsTer14
NM_001354896.2:c.5307_5312delinsTT NP_001341825.1:p.Gln1769HisfsTer14
NM_001354897.2:c.5283_5288delinsTT NP_001341826.1:p.Gln1761HisfsTer14
NM_001354898.2:c.5178_5183delinsTT NP_001341827.1:p.Gln1726HisfsTer14
NM_001354899.2:c.5169_5174delinsTT NP_001341828.1:p.Gln1723HisfsTer14
NM_001354900.2:c.5130_5135delinsTT NP_001341829.1:p.Gln1710HisfsTer14
NM_001354901.2:c.5076_5081delinsTT NP_001341830.1:p.Gln1692HisfsTer14
NM_001354902.2:c.4980_4985delinsTT NP_001341831.1:p.Gln1660HisfsTer14
NM_001354903.2:c.4950_4955delinsTT NP_001341832.1:p.Gln1650HisfsTer14
NM_001354904.2:c.4875_4880delinsTT NP_001341833.1:p.Gln1625HisfsTer14
NM_001354905.2:c.4773_4778delinsTT NP_001341834.1:p.Gln1591HisfsTer14
NM_001354906.2:c.4404_4409delinsTT NP_001341835.1:p.Gln1468HisfsTer14