Canonical Allele Identifier: CA3266643900
Community Standard Title: NM_000038.6(APC):c.4285_6065dup (p.Arg2023LysfsTer44)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839879_112841659dup , CM000667.2:g.112839879_112841659dup GRCh38
NC_000005.9:g.112175576_112177356dup , CM000667.1:g.112175576_112177356dup GRCh37
NC_000005.8:g.112203475_112205255dup NCBI36
NG_008481.4:g.152359_154139dup , LRG_130:g.152359_154139dup

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4285_6065dup MANE Select NP_000029.2:p.Arg2023LysfsTer44
ENST00000257430.9:c.4285_6065dup MANE Select ENSP00000257430.4:p.Arg2023LysfsTer44
NM_000038.5:c.4285_6065dup NP_000029.2:p.Arg2023LysfsTer44
NM_001127510.2:c.4285_6065dup NP_001120982.1:p.Arg2023LysfsTer44
NM_001127510.3:c.4285_6065dup NP_001120982.1:p.Arg2023LysfsTer44
NM_001127511.2:c.4231_6011dup NP_001120983.2:p.Arg2005LysfsTer44
NM_001127511.3:c.4231_6011dup NP_001120983.2:p.Arg2005LysfsTer44
NM_001354895.1:c.4285_6065dup NP_001341824.1:p.Arg2023LysfsTer44
NM_001354895.2:c.4285_6065dup NP_001341824.1:p.Arg2023LysfsTer44
NM_001354896.1:c.4339_6119dup NP_001341825.1:p.Arg2041LysfsTer44
NM_001354896.2:c.4339_6119dup NP_001341825.1:p.Arg2041LysfsTer44
NM_001354897.1:c.4315_6095dup NP_001341826.1:p.Arg2033LysfsTer44
NM_001354897.2:c.4315_6095dup NP_001341826.1:p.Arg2033LysfsTer44
NM_001354898.1:c.4210_5990dup NP_001341827.1:p.Arg1998LysfsTer44
NM_001354898.2:c.4210_5990dup NP_001341827.1:p.Arg1998LysfsTer44
NM_001354899.1:c.4201_5981dup NP_001341828.1:p.Arg1995LysfsTer44
NM_001354899.2:c.4201_5981dup NP_001341828.1:p.Arg1995LysfsTer44
NM_001354900.1:c.4162_5942dup NP_001341829.1:p.Arg1982LysfsTer44
NM_001354900.2:c.4162_5942dup NP_001341829.1:p.Arg1982LysfsTer44
NM_001354901.1:c.4108_5888dup NP_001341830.1:p.Arg1964LysfsTer44
NM_001354901.2:c.4108_5888dup NP_001341830.1:p.Arg1964LysfsTer44
NM_001354902.1:c.4012_5792dup NP_001341831.1:p.Arg1932LysfsTer44
NM_001354902.2:c.4012_5792dup NP_001341831.1:p.Arg1932LysfsTer44
NM_001354903.1:c.3982_5762dup NP_001341832.1:p.Arg1922LysfsTer44
NM_001354903.2:c.3982_5762dup NP_001341832.1:p.Arg1922LysfsTer44
NM_001354904.1:c.3907_5687dup NP_001341833.1:p.Arg1897LysfsTer44
NM_001354904.2:c.3907_5687dup NP_001341833.1:p.Arg1897LysfsTer44
NM_001354905.1:c.3805_5585dup NP_001341834.1:p.Arg1863LysfsTer44
NM_001354905.2:c.3805_5585dup NP_001341834.1:p.Arg1863LysfsTer44
NM_001354906.1:c.3436_5216dup NP_001341835.1:p.Arg1740LysfsTer44
NM_001354906.2:c.3436_5216dup NP_001341835.1:p.Arg1740LysfsTer44
ENST00000257430.8:c.4285_6065dup ENSP00000257430.4:p.Arg2023LysfsTer44
ENST00000504915.3:c.4339_6119dup ENSP00000473355.2:p.Arg2041LysfsTer44
ENST00000505350.2:c.*4291_*6071dup ENSP00000481752.1:n.*4291_*6071dup
ENST00000507379.6:c.4231_6011dup ENSP00000423224.2:p.Arg2005LysfsTer44
ENST00000508376.6:c.4285_6065dup ENSP00000427089.2:p.Arg2023LysfsTer44
ENST00000508624.5:c.*3607_*5387dup ENSP00000424265.1:n.*3607_*5387dup
ENST00000509732.6:c.4285_6065dup ENSP00000426541.2:p.Arg2023LysfsTer44
ENST00000512211.7:c.4285_6065dup ENSP00000423828.3:p.Arg2023LysfsTer44
ENST00000520401.1:c.230+10907_230+12687dup