Canonical Allele Identifier:
CA3266643802
Community Standard Title: NM_000038.6(APC):c.3982_6093dup (p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839576_112841687dup , CM000667.2:g.112839576_112841687dup | GRCh38 |
| NC_000005.9:g.112175273_112177384dup , CM000667.1:g.112175273_112177384dup | GRCh37 |
| NC_000005.8:g.112203172_112205283dup | NCBI36 |
| NG_008481.4:g.152056_154167dup , LRG_130:g.152056_154167dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000038.6:c.3982_6093dup MANE Select | NP_000029.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLe... |
| ENST00000257430.9:c.3982_6093dup MANE Select | ENSP00000257430.4:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSe... |
| NM_000038.5:c.3982_6093dup | NP_000029.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLe... |
| NM_001127510.2:c.3982_6093dup | NP_001120982.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerAr... |
| NM_001127510.3:c.3982_6093dup | NP_001120982.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerAr... |
| NM_001127511.2:c.3928_6039dup | NP_001120983.2:p.Ser2013_Ile2014insGlnHisProArgThrLysSerSerAr... |
| NM_001127511.3:c.3928_6039dup | NP_001120983.2:p.Ser2013_Ile2014insGlnHisProArgThrLysSerSerAr... |
| NM_001354895.1:c.3982_6093dup | NP_001341824.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerAr... |
| NM_001354895.2:c.3982_6093dup | NP_001341824.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerAr... |
| NM_001354896.1:c.4036_6147dup | NP_001341825.1:p.Ser2049_Ile2050insGlnHisProArgThrLysSerSerAr... |
| NM_001354896.2:c.4036_6147dup | NP_001341825.1:p.Ser2049_Ile2050insGlnHisProArgThrLysSerSerAr... |
| NM_001354897.1:c.4012_6123dup | NP_001341826.1:p.Ser2041_Ile2042insGlnHisProArgThrLysSerSerAr... |
| NM_001354897.2:c.4012_6123dup | NP_001341826.1:p.Ser2041_Ile2042insGlnHisProArgThrLysSerSerAr... |
| NM_001354898.1:c.3907_6018dup | NP_001341827.1:p.Ser2006_Ile2007insGlnHisProArgThrLysSerSerAr... |
| NM_001354898.2:c.3907_6018dup | NP_001341827.1:p.Ser2006_Ile2007insGlnHisProArgThrLysSerSerAr... |
| NM_001354899.1:c.3898_6009dup | NP_001341828.1:p.Ser2003_Ile2004insGlnHisProArgThrLysSerSerAr... |
| NM_001354899.2:c.3898_6009dup | NP_001341828.1:p.Ser2003_Ile2004insGlnHisProArgThrLysSerSerAr... |
| NM_001354900.1:c.3859_5970dup | NP_001341829.1:p.Ser1990_Ile1991insGlnHisProArgThrLysSerSerAr... |
| NM_001354900.2:c.3859_5970dup | NP_001341829.1:p.Ser1990_Ile1991insGlnHisProArgThrLysSerSerAr... |
| NM_001354901.1:c.3805_5916dup | NP_001341830.1:p.Ser1972_Ile1973insGlnHisProArgThrLysSerSerAr... |
| NM_001354901.2:c.3805_5916dup | NP_001341830.1:p.Ser1972_Ile1973insGlnHisProArgThrLysSerSerAr... |
| NM_001354902.1:c.3709_5820dup | NP_001341831.1:p.Ser1940_Ile1941insGlnHisProArgThrLysSerSerAr... |
| NM_001354902.2:c.3709_5820dup | NP_001341831.1:p.Ser1940_Ile1941insGlnHisProArgThrLysSerSerAr... |
| NM_001354903.1:c.3679_5790dup | NP_001341832.1:p.Ser1930_Ile1931insGlnHisProArgThrLysSerSerAr... |
| NM_001354903.2:c.3679_5790dup | NP_001341832.1:p.Ser1930_Ile1931insGlnHisProArgThrLysSerSerAr... |
| NM_001354904.1:c.3604_5715dup | NP_001341833.1:p.Ser1905_Ile1906insGlnHisProArgThrLysSerSerAr... |
| NM_001354904.2:c.3604_5715dup | NP_001341833.1:p.Ser1905_Ile1906insGlnHisProArgThrLysSerSerAr... |
| NM_001354905.1:c.3502_5613dup | NP_001341834.1:p.Ser1871_Ile1872insGlnHisProArgThrLysSerSerAr... |
| NM_001354905.2:c.3502_5613dup | NP_001341834.1:p.Ser1871_Ile1872insGlnHisProArgThrLysSerSerAr... |
| NM_001354906.1:c.3133_5244dup | NP_001341835.1:p.Ser1748_Ile1749insGlnHisProArgThrLysSerSerAr... |
| NM_001354906.2:c.3133_5244dup | NP_001341835.1:p.Ser1748_Ile1749insGlnHisProArgThrLysSerSerAr... |
| ENST00000257430.8:c.3982_6093dup | ENSP00000257430.4:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSe... |
| ENST00000504915.3:c.4036_6147dup | ENSP00000473355.2:p.Ser2049_Ile2050insGlnHisProArgThrLysSerSe... |
| ENST00000505350.2:c.*3988_*6099dup | ENSP00000481752.1:n.*3988_*6099dup |
| ENST00000507379.6:c.3928_6039dup | ENSP00000423224.2:p.Ser2013_Ile2014insGlnHisProArgThrLysSerSe... |
| ENST00000508376.6:c.3982_6093dup | ENSP00000427089.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSe... |
| ENST00000508624.5:c.*3304_*5415dup | ENSP00000424265.1:n.*3304_*5415dup |
| ENST00000509732.6:c.3982_6093dup | ENSP00000426541.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSe... |
| ENST00000512211.7:c.3982_6093dup | ENSP00000423828.3:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSe... |
| ENST00000520401.1:c.230+10604_230+12715dup |