Canonical Allele Identifier: CA3266643902
Community Standard Title: NM_000038.6(APC):c.4289_6065dup (p.Arg2023HisfsTer7)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839883_112841659dup , CM000667.2:g.112839883_112841659dup GRCh38
NC_000005.9:g.112175580_112177356dup , CM000667.1:g.112175580_112177356dup GRCh37
NC_000005.8:g.112203479_112205255dup NCBI36
NG_008481.4:g.152363_154139dup , LRG_130:g.152363_154139dup

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4289_6065dup MANE Select NP_000029.2:p.Arg2023HisfsTer7
ENST00000257430.9:c.4289_6065dup MANE Select ENSP00000257430.4:p.Arg2023HisfsTer7
NM_000038.5:c.4289_6065dup NP_000029.2:p.Arg2023HisfsTer7
NM_001127510.2:c.4289_6065dup NP_001120982.1:p.Arg2023HisfsTer7
NM_001127510.3:c.4289_6065dup NP_001120982.1:p.Arg2023HisfsTer7
NM_001127511.2:c.4235_6011dup NP_001120983.2:p.Arg2005HisfsTer7
NM_001127511.3:c.4235_6011dup NP_001120983.2:p.Arg2005HisfsTer7
NM_001354895.1:c.4289_6065dup NP_001341824.1:p.Arg2023HisfsTer7
NM_001354895.2:c.4289_6065dup NP_001341824.1:p.Arg2023HisfsTer7
NM_001354896.1:c.4343_6119dup NP_001341825.1:p.Arg2041HisfsTer7
NM_001354896.2:c.4343_6119dup NP_001341825.1:p.Arg2041HisfsTer7
NM_001354897.1:c.4319_6095dup NP_001341826.1:p.Arg2033HisfsTer7
NM_001354897.2:c.4319_6095dup NP_001341826.1:p.Arg2033HisfsTer7
NM_001354898.1:c.4214_5990dup NP_001341827.1:p.Arg1998HisfsTer7
NM_001354898.2:c.4214_5990dup NP_001341827.1:p.Arg1998HisfsTer7
NM_001354899.1:c.4205_5981dup NP_001341828.1:p.Arg1995HisfsTer7
NM_001354899.2:c.4205_5981dup NP_001341828.1:p.Arg1995HisfsTer7
NM_001354900.1:c.4166_5942dup NP_001341829.1:p.Arg1982HisfsTer7
NM_001354900.2:c.4166_5942dup NP_001341829.1:p.Arg1982HisfsTer7
NM_001354901.1:c.4112_5888dup NP_001341830.1:p.Arg1964HisfsTer7
NM_001354901.2:c.4112_5888dup NP_001341830.1:p.Arg1964HisfsTer7
NM_001354902.1:c.4016_5792dup NP_001341831.1:p.Arg1932HisfsTer7
NM_001354902.2:c.4016_5792dup NP_001341831.1:p.Arg1932HisfsTer7
NM_001354903.1:c.3986_5762dup NP_001341832.1:p.Arg1922HisfsTer7
NM_001354903.2:c.3986_5762dup NP_001341832.1:p.Arg1922HisfsTer7
NM_001354904.1:c.3911_5687dup NP_001341833.1:p.Arg1897HisfsTer7
NM_001354904.2:c.3911_5687dup NP_001341833.1:p.Arg1897HisfsTer7
NM_001354905.1:c.3809_5585dup NP_001341834.1:p.Arg1863HisfsTer7
NM_001354905.2:c.3809_5585dup NP_001341834.1:p.Arg1863HisfsTer7
NM_001354906.1:c.3440_5216dup NP_001341835.1:p.Arg1740HisfsTer7
NM_001354906.2:c.3440_5216dup NP_001341835.1:p.Arg1740HisfsTer7
ENST00000257430.8:c.4289_6065dup ENSP00000257430.4:p.Arg2023HisfsTer7
ENST00000504915.3:c.4343_6119dup ENSP00000473355.2:p.Arg2041HisfsTer7
ENST00000505350.2:c.*4295_*6071dup ENSP00000481752.1:n.*4295_*6071dup
ENST00000507379.6:c.4235_6011dup ENSP00000423224.2:p.Arg2005HisfsTer7
ENST00000508376.6:c.4289_6065dup ENSP00000427089.2:p.Arg2023HisfsTer7
ENST00000508624.5:c.*3611_*5387dup ENSP00000424265.1:n.*3611_*5387dup
ENST00000509732.6:c.4289_6065dup ENSP00000426541.2:p.Arg2023HisfsTer7
ENST00000512211.7:c.4289_6065dup ENSP00000423828.3:p.Arg2023HisfsTer7
ENST00000520401.1:c.230+10911_230+12687dup