Canonical Allele Identifier:
CA3266643874
Community Standard Title: NM_000038.6(APC):c.4167_6065dup (p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839761_112841659dup , CM000667.2:g.112839761_112841659dup | GRCh38 |
| NC_000005.9:g.112175458_112177356dup , CM000667.1:g.112175458_112177356dup | GRCh37 |
| NC_000005.8:g.112203357_112205255dup | NCBI36 |
| NG_008481.4:g.152241_154139dup , LRG_130:g.152241_154139dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000038.6:c.4167_6065dup MANE Select | NP_000029.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerAr... |
| ENST00000257430.9:c.4167_6065dup MANE Select | ENSP00000257430.4:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGl... |
| NM_000038.5:c.4167_6065dup | NP_000029.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerAr... |
| NM_001127510.2:c.4167_6065dup | NP_001120982.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSe... |
| NM_001127510.3:c.4167_6065dup | NP_001120982.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSe... |
| NM_001127511.2:c.4113_6011dup | NP_001120983.2:p.Ser2004_Arg2005insValSerSerLeuAspSerPheGluSe... |
| NM_001127511.3:c.4113_6011dup | NP_001120983.2:p.Ser2004_Arg2005insValSerSerLeuAspSerPheGluSe... |
| NM_001354895.1:c.4167_6065dup | NP_001341824.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSe... |
| NM_001354895.2:c.4167_6065dup | NP_001341824.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSe... |
| NM_001354896.1:c.4221_6119dup | NP_001341825.1:p.Ser2040_Arg2041insValSerSerLeuAspSerPheGluSe... |
| NM_001354896.2:c.4221_6119dup | NP_001341825.1:p.Ser2040_Arg2041insValSerSerLeuAspSerPheGluSe... |
| NM_001354897.1:c.4197_6095dup | NP_001341826.1:p.Ser2032_Arg2033insValSerSerLeuAspSerPheGluSe... |
| NM_001354897.2:c.4197_6095dup | NP_001341826.1:p.Ser2032_Arg2033insValSerSerLeuAspSerPheGluSe... |
| NM_001354898.1:c.4092_5990dup | NP_001341827.1:p.Ser1997_Arg1998insValSerSerLeuAspSerPheGluSe... |
| NM_001354898.2:c.4092_5990dup | NP_001341827.1:p.Ser1997_Arg1998insValSerSerLeuAspSerPheGluSe... |
| NM_001354899.1:c.4083_5981dup | NP_001341828.1:p.Ser1994_Arg1995insValSerSerLeuAspSerPheGluSe... |
| NM_001354899.2:c.4083_5981dup | NP_001341828.1:p.Ser1994_Arg1995insValSerSerLeuAspSerPheGluSe... |
| NM_001354900.1:c.4044_5942dup | NP_001341829.1:p.Ser1981_Arg1982insValSerSerLeuAspSerPheGluSe... |
| NM_001354900.2:c.4044_5942dup | NP_001341829.1:p.Ser1981_Arg1982insValSerSerLeuAspSerPheGluSe... |
| NM_001354901.1:c.3990_5888dup | NP_001341830.1:p.Ser1963_Arg1964insValSerSerLeuAspSerPheGluSe... |
| NM_001354901.2:c.3990_5888dup | NP_001341830.1:p.Ser1963_Arg1964insValSerSerLeuAspSerPheGluSe... |
| NM_001354902.1:c.3894_5792dup | NP_001341831.1:p.Ser1931_Arg1932insValSerSerLeuAspSerPheGluSe... |
| NM_001354902.2:c.3894_5792dup | NP_001341831.1:p.Ser1931_Arg1932insValSerSerLeuAspSerPheGluSe... |
| NM_001354903.1:c.3864_5762dup | NP_001341832.1:p.Ser1921_Arg1922insValSerSerLeuAspSerPheGluSe... |
| NM_001354903.2:c.3864_5762dup | NP_001341832.1:p.Ser1921_Arg1922insValSerSerLeuAspSerPheGluSe... |
| NM_001354904.1:c.3789_5687dup | NP_001341833.1:p.Ser1896_Arg1897insValSerSerLeuAspSerPheGluSe... |
| NM_001354904.2:c.3789_5687dup | NP_001341833.1:p.Ser1896_Arg1897insValSerSerLeuAspSerPheGluSe... |
| NM_001354905.1:c.3687_5585dup | NP_001341834.1:p.Ser1862_Arg1863insValSerSerLeuAspSerPheGluSe... |
| NM_001354905.2:c.3687_5585dup | NP_001341834.1:p.Ser1862_Arg1863insValSerSerLeuAspSerPheGluSe... |
| NM_001354906.1:c.3318_5216dup | NP_001341835.1:p.Ser1739_Arg1740insValSerSerLeuAspSerPheGluSe... |
| NM_001354906.2:c.3318_5216dup | NP_001341835.1:p.Ser1739_Arg1740insValSerSerLeuAspSerPheGluSe... |
| ENST00000257430.8:c.4167_6065dup | ENSP00000257430.4:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGl... |
| ENST00000504915.3:c.4221_6119dup | ENSP00000473355.2:p.Ser2040_Arg2041insValSerSerLeuAspSerPheGl... |
| ENST00000505350.2:c.*4173_*6071dup | ENSP00000481752.1:n.*4173_*6071dup |
| ENST00000507379.6:c.4113_6011dup | ENSP00000423224.2:p.Ser2004_Arg2005insValSerSerLeuAspSerPheGl... |
| ENST00000508376.6:c.4167_6065dup | ENSP00000427089.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGl... |
| ENST00000508624.5:c.*3489_*5387dup | ENSP00000424265.1:n.*3489_*5387dup |
| ENST00000509732.6:c.4167_6065dup | ENSP00000426541.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGl... |
| ENST00000512211.7:c.4167_6065dup | ENSP00000423828.3:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGl... |
| ENST00000520401.1:c.230+10789_230+12687dup |