Canonical Allele Identifier: CA3261345288
Community Standard Title: NM_000038.6(APC):c.6038_6111del (p.His2013ProfsTer22)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841632_112841705del , CM000667.2:g.112841632_112841705del GRCh38
NC_000005.9:g.112177329_112177402del , CM000667.1:g.112177329_112177402del GRCh37
NC_000005.8:g.112205228_112205301del NCBI36
NG_008481.4:g.154112_154185del , LRG_130:g.154112_154185del

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6038_6111del MANE Select NP_000029.2:p.His2013ProfsTer22
ENST00000257430.9:c.6038_6111del MANE Select ENSP00000257430.4:p.His2013ProfsTer22
NM_000038.5:c.6038_6111del NP_000029.2:p.His2013ProfsTer22
NM_001127510.2:c.6038_6111del NP_001120982.1:p.His2013ProfsTer22
NM_001127510.3:c.6038_6111del NP_001120982.1:p.His2013ProfsTer22
NM_001127511.2:c.5984_6057del NP_001120983.2:p.His1995ProfsTer22
NM_001127511.3:c.5984_6057del NP_001120983.2:p.His1995ProfsTer22
NM_001354895.1:c.6038_6111del NP_001341824.1:p.His2013ProfsTer22
NM_001354895.2:c.6038_6111del NP_001341824.1:p.His2013ProfsTer22
NM_001354896.1:c.6092_6165del NP_001341825.1:p.His2031ProfsTer22
NM_001354896.2:c.6092_6165del NP_001341825.1:p.His2031ProfsTer22
NM_001354897.1:c.6068_6141del NP_001341826.1:p.His2023ProfsTer22
NM_001354897.2:c.6068_6141del NP_001341826.1:p.His2023ProfsTer22
NM_001354898.1:c.5963_6036del NP_001341827.1:p.His1988ProfsTer22
NM_001354898.2:c.5963_6036del NP_001341827.1:p.His1988ProfsTer22
NM_001354899.1:c.5954_6027del NP_001341828.1:p.His1985ProfsTer22
NM_001354899.2:c.5954_6027del NP_001341828.1:p.His1985ProfsTer22
NM_001354900.1:c.5915_5988del NP_001341829.1:p.His1972ProfsTer22
NM_001354900.2:c.5915_5988del NP_001341829.1:p.His1972ProfsTer22
NM_001354901.1:c.5861_5934del NP_001341830.1:p.His1954ProfsTer22
NM_001354901.2:c.5861_5934del NP_001341830.1:p.His1954ProfsTer22
NM_001354902.1:c.5765_5838del NP_001341831.1:p.His1922ProfsTer22
NM_001354902.2:c.5765_5838del NP_001341831.1:p.His1922ProfsTer22
NM_001354903.1:c.5735_5808del NP_001341832.1:p.His1912ProfsTer22
NM_001354903.2:c.5735_5808del NP_001341832.1:p.His1912ProfsTer22
NM_001354904.1:c.5660_5733del NP_001341833.1:p.His1887ProfsTer22
NM_001354904.2:c.5660_5733del NP_001341833.1:p.His1887ProfsTer22
NM_001354905.1:c.5558_5631del NP_001341834.1:p.His1853ProfsTer22
NM_001354905.2:c.5558_5631del NP_001341834.1:p.His1853ProfsTer22
NM_001354906.1:c.5189_5262del NP_001341835.1:p.His1730ProfsTer22
NM_001354906.2:c.5189_5262del NP_001341835.1:p.His1730ProfsTer22
ENST00000257430.8:c.6038_6111del ENSP00000257430.4:p.His2013ProfsTer22
ENST00000504915.3:c.6092_6165del ENSP00000473355.2:p.His2031ProfsTer22
ENST00000505350.2:c.*6044_*6117del ENSP00000481752.1:n.*6044_*6117del
ENST00000507379.6:c.5984_6057del ENSP00000423224.2:p.His1995ProfsTer22
ENST00000508376.6:c.6038_6111del ENSP00000427089.2:p.His2013ProfsTer22
ENST00000508624.5:c.*5360_*5433del ENSP00000424265.1:n.*5360_*5433del
ENST00000509732.6:c.6038_6111del ENSP00000426541.2:p.His2013ProfsTer22
ENST00000512211.7:c.6038_6111del ENSP00000423828.3:p.His2013ProfsTer22
ENST00000520401.1:c.230+12660_230+12733del