Canonical Allele Identifier: CA3261345292
Community Standard Title: NM_000038.6(APC):c.6044_6117del (p.Glu2015AlafsTer20)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841638_112841711del , CM000667.2:g.112841638_112841711del GRCh38
NC_000005.9:g.112177335_112177408del , CM000667.1:g.112177335_112177408del GRCh37
NC_000005.8:g.112205234_112205307del NCBI36
NG_008481.4:g.154118_154191del , LRG_130:g.154118_154191del

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6044_6117del MANE Select NP_000029.2:p.Glu2015AlafsTer20
ENST00000257430.9:c.6044_6117del MANE Select ENSP00000257430.4:p.Glu2015AlafsTer20
NM_000038.5:c.6044_6117del NP_000029.2:p.Glu2015AlafsTer20
NM_001127510.2:c.6044_6117del NP_001120982.1:p.Glu2015AlafsTer20
NM_001127510.3:c.6044_6117del NP_001120982.1:p.Glu2015AlafsTer20
NM_001127511.2:c.5990_6063del NP_001120983.2:p.Glu1997AlafsTer20
NM_001127511.3:c.5990_6063del NP_001120983.2:p.Glu1997AlafsTer20
NM_001354895.1:c.6044_6117del NP_001341824.1:p.Glu2015AlafsTer20
NM_001354895.2:c.6044_6117del NP_001341824.1:p.Glu2015AlafsTer20
NM_001354896.1:c.6098_6171del NP_001341825.1:p.Glu2033AlafsTer20
NM_001354896.2:c.6098_6171del NP_001341825.1:p.Glu2033AlafsTer20
NM_001354897.1:c.6074_6147del NP_001341826.1:p.Glu2025AlafsTer20
NM_001354897.2:c.6074_6147del NP_001341826.1:p.Glu2025AlafsTer20
NM_001354898.1:c.5969_6042del NP_001341827.1:p.Glu1990AlafsTer20
NM_001354898.2:c.5969_6042del NP_001341827.1:p.Glu1990AlafsTer20
NM_001354899.1:c.5960_6033del NP_001341828.1:p.Glu1987AlafsTer20
NM_001354899.2:c.5960_6033del NP_001341828.1:p.Glu1987AlafsTer20
NM_001354900.1:c.5921_5994del NP_001341829.1:p.Glu1974AlafsTer20
NM_001354900.2:c.5921_5994del NP_001341829.1:p.Glu1974AlafsTer20
NM_001354901.1:c.5867_5940del NP_001341830.1:p.Glu1956AlafsTer20
NM_001354901.2:c.5867_5940del NP_001341830.1:p.Glu1956AlafsTer20
NM_001354902.1:c.5771_5844del NP_001341831.1:p.Glu1924AlafsTer20
NM_001354902.2:c.5771_5844del NP_001341831.1:p.Glu1924AlafsTer20
NM_001354903.1:c.5741_5814del NP_001341832.1:p.Glu1914AlafsTer20
NM_001354903.2:c.5741_5814del NP_001341832.1:p.Glu1914AlafsTer20
NM_001354904.1:c.5666_5739del NP_001341833.1:p.Glu1889AlafsTer20
NM_001354904.2:c.5666_5739del NP_001341833.1:p.Glu1889AlafsTer20
NM_001354905.1:c.5564_5637del NP_001341834.1:p.Glu1855AlafsTer20
NM_001354905.2:c.5564_5637del NP_001341834.1:p.Glu1855AlafsTer20
NM_001354906.1:c.5195_5268del NP_001341835.1:p.Glu1732AlafsTer20
NM_001354906.2:c.5195_5268del NP_001341835.1:p.Glu1732AlafsTer20
ENST00000257430.8:c.6044_6117del ENSP00000257430.4:p.Glu2015AlafsTer20
ENST00000504915.3:c.6098_6171del ENSP00000473355.2:p.Glu2033AlafsTer20
ENST00000505350.2:c.*6050_*6123del ENSP00000481752.1:n.*6050_*6123del
ENST00000507379.6:c.5990_6063del ENSP00000423224.2:p.Glu1997AlafsTer20
ENST00000508376.6:c.6044_6117del ENSP00000427089.2:p.Glu2015AlafsTer20
ENST00000508624.5:c.*5366_*5439del ENSP00000424265.1:n.*5366_*5439del
ENST00000509732.6:c.6044_6117del ENSP00000426541.2:p.Glu2015AlafsTer20
ENST00000512211.7:c.6044_6117del ENSP00000423828.3:p.Glu2015AlafsTer20
ENST00000520401.1:c.230+12666_230+12739del