UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540238_117540249dup | CA326363 | CFTR | c.1008_1019dup (p.Ile340_Ser341insPheThrThrIle) c.*905_*916dup (n.*905_*916dup) c.*832_*843dup (n.*832_*843dup) c.765_776dup (p.Ile259_Ser260insPheThrThrIle) c.918_929dup (p.Ile310_Ser311insPheThrThrIle) c.1098_1109dup (p.Ile370_Ser371insPheThrThrIle) | ClinVar dbSNP |
| 7 | g.117540246_117540248del | CA2695208309 | CFTR | c.1016_1018del (p.Thr339del) c.*913_*915del (n.*913_*915del) c.*840_*842del (n.*840_*842del) c.773_775del (p.Thr258del) c.926_928del (p.Thr309del) c.1106_1108del (p.Thr369del) | |
| 7 | g.117540247C>A | CA457448754 | CFTR | c.1017C>A (p.Thr339=) c.*914C>A (n.*914C>A) c.*841C>A (n.*841C>A) c.774C>A (p.Thr258=) c.927C>A (p.Thr309=) c.1107C>A (p.Thr369=) | dbSNP |
| 7 | g.117540247C= | CA1737332211 | CFTR | c.1017C= (p.Thr339=) c.*914C= (n.*914C=) c.*841C= (n.*841C=) c.774C= (p.Thr258=) c.927C= (p.Thr309=) c.1107C= (p.Thr369=) | |
| 7 | g.117540247C>G | CA457448755 | CFTR | c.1017C>G (p.Thr339=) c.*914C>G (n.*914C>G) c.*841C>G (n.*841C>G) c.774C>G (p.Thr258=) c.927C>G (p.Thr309=) c.1107C>G (p.Thr369=) | |
| 7 | g.117540247C>T | CA457448756 | CFTR | c.1017C>T (p.Thr339=) c.*914C>T (n.*914C>T) c.*841C>T (n.*841C>T) c.774C>T (p.Thr258=) c.927C>T (p.Thr309=) c.1107C>T (p.Thr369=) | ClinVar dbSNP |
| 7 | g.117540247_117540248delinsCA | CA1737332212 | CFTR | c.1017_1018delinsCA (p.Thr339=) c.*914_*915delinsCA (n.*914_*915delinsCA) c.*841_*842delinsCA (n.*841_*842delinsCA) c.774_775delinsCA (p.Thr258=) c.927_928delinsCA (p.Thr309=) c.1107_1108delinsCA (p.Thr369=) | |
| 7 | g.117540248del | CA326369 | CFTR | c.1018del (p.Ile340SerfsTer29) c.*915del (n.*915del) c.*842del (n.*842del) c.775del (p.Ile259SerfsTer29) c.928del (p.Ile310SerfsTer29) c.1108del (p.Ile370SerfsTer29) | dbSNP |
| 7 | g.117540248A= | CA1737332217 | CFTR | c.1018A= (p.Ile340=) c.*915A= (n.*915A=) c.*842A= (n.*842A=) c.775A= (p.Ile259=) c.928A= (p.Ile310=) c.1108A= (p.Ile370=) | |
| 7 | g.117540248A>C | CA368978795 | CFTR | c.1018A>C (p.Ile340Leu) c.*915A>C (n.*915A>C) c.*842A>C (n.*842A>C) c.775A>C (p.Ile259Leu) c.928A>C (p.Ile310Leu) c.1108A>C (p.Ile370Leu) | |
| 7 | g.117540248A>G | CA164953763 | CFTR | c.1018A>G (p.Ile340Val) c.*915A>G (n.*915A>G) c.*842A>G (n.*842A>G) c.775A>G (p.Ile259Val) c.928A>G (p.Ile310Val) c.1108A>G (p.Ile370Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540248A>T | CA368978793 | CFTR | c.1018A>T (p.Ile340Phe) c.*915A>T (n.*915A>T) c.*842A>T (n.*842A>T) c.775A>T (p.Ile259Phe) c.928A>T (p.Ile310Phe) c.1108A>T (p.Ile370Phe) | |
| 7 | g.117540249T>A | CA368978798 | CFTR | c.1019T>A (p.Ile340Asn) c.*916T>A (n.*916T>A) c.*843T>A (n.*843T>A) c.776T>A (p.Ile259Asn) c.929T>A (p.Ile310Asn) c.1109T>A (p.Ile370Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540249T>C | CA368978799 | CFTR | c.1019T>C (p.Ile340Thr) c.*916T>C (n.*916T>C) c.*843T>C (n.*843T>C) c.776T>C (p.Ile259Thr) c.929T>C (p.Ile310Thr) c.1109T>C (p.Ile370Thr) | |
| 7 | g.117540249T>G | CA368978801 | CFTR | c.1019T>G (p.Ile340Ser) c.*916T>G (n.*916T>G) c.*843T>G (n.*843T>G) c.776T>G (p.Ile259Ser) c.929T>G (p.Ile310Ser) c.1109T>G (p.Ile370Ser) | |
| 7 | g.117540249T= | CA1737332226 | CFTR | c.1019T= (p.Ile340=) c.*916T= (n.*916T=) c.*843T= (n.*843T=) c.776T= (p.Ile259=) c.929T= (p.Ile310=) c.1109T= (p.Ile370=) | |
| 7 | g.117540251_117540252dup | CA340640 | CFTR | c.1021_1022dup (p.Phe342HisfsTer28) c.*918_*919dup (n.*918_*919dup) c.*845_*846dup (n.*845_*846dup) c.778_779dup (p.Phe261HisfsTer28) c.931_932dup (p.Phe312HisfsTer28) c.1111_1112dup (p.Phe372HisfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540250C>A | CA457448758 | CFTR | c.1020C>A (p.Ile340=) c.*917C>A (n.*917C>A) c.*844C>A (n.*844C>A) c.777C>A (p.Ile259=) c.930C>A (p.Ile310=) c.1110C>A (p.Ile370=) | |
| 7 | g.117540250C>G | CA368978803 | CFTR | c.1020C>G (p.Ile340Met) c.*917C>G (n.*917C>G) c.*844C>G (n.*844C>G) c.777C>G (p.Ile259Met) c.930C>G (p.Ile310Met) c.1110C>G (p.Ile370Met) | dbSNP |
| 7 | g.117540250C>T | CA457448757 | CFTR | c.1020C>T (p.Ile340=) c.*917C>T (n.*917C>T) c.*844C>T (n.*844C>T) c.777C>T (p.Ile259=) c.930C>T (p.Ile310=) c.1110C>T (p.Ile370=) | |
| 7 | g.117540251T>A | CA368978805 | CFTR | c.1021T>A (p.Ser341Thr) c.*918T>A (n.*918T>A) c.*845T>A (n.*845T>A) c.778T>A (p.Ser260Thr) c.931T>A (p.Ser311Thr) c.1111T>A (p.Ser371Thr) | |
| 7 | g.117540251T>C | CA328077 | CFTR | c.1021T>C (p.Ser341Pro) c.*918T>C (n.*918T>C) c.*845T>C (n.*845T>C) c.778T>C (p.Ser260Pro) c.931T>C (p.Ser311Pro) c.1111T>C (p.Ser371Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540251T>G | CA368978807 | CFTR | c.1021T>G (p.Ser341Ala) c.*918T>G (n.*918T>G) c.*845T>G (n.*845T>G) c.778T>G (p.Ser260Ala) c.931T>G (p.Ser311Ala) c.1111T>G (p.Ser371Ala) | |
| 7 | g.117540251T= | CA1737332236 | CFTR | c.1021T= (p.Ser341=) c.*918T= (n.*918T=) c.*845T= (n.*845T=) c.778T= (p.Ser260=) c.931T= (p.Ser311=) c.1111T= (p.Ser371=) | |
| 7 | g.117540252C>A | CA368978808 | CFTR | c.1022C>A (p.Ser341Ter) c.*919C>A (n.*919C>A) c.*846C>A (n.*846C>A) c.779C>A (p.Ser260Ter) c.932C>A (p.Ser311Ter) c.1112C>A (p.Ser371Ter) | |
| 7 | g.117540252C>G | CA368978809 | CFTR | c.1022C>G (p.Ser341Ter) c.*919C>G (n.*919C>G) c.*846C>G (n.*846C>G) c.779C>G (p.Ser260Ter) c.932C>G (p.Ser311Ter) c.1112C>G (p.Ser371Ter) | |
| 7 | g.117540252C>T | CA368978810 | CFTR | c.1022C>T (p.Ser341Leu) c.*919C>T (n.*919C>T) c.*846C>T (n.*846C>T) c.779C>T (p.Ser260Leu) c.932C>T (p.Ser311Leu) c.1112C>T (p.Ser371Leu) | |
| 7 | g.117540252dup | CA1737332247 | CFTR | c.1022dup (p.Phe342IlefsTer22) c.*919dup (n.*919dup) c.*846dup (n.*846dup) c.779dup (p.Phe261IlefsTer22) c.932dup (p.Phe312IlefsTer22) c.1112dup (p.Phe372IlefsTer22) | dbSNP |
| 7 | g.117540253A= | CA1737332250 | CFTR | c.1023A= (p.Ser341=) c.*920A= (n.*920A=) c.*847A= (n.*847A=) c.780A= (p.Ser260=) c.933A= (p.Ser311=) c.1113A= (p.Ser371=) | |
| 7 | g.117540253A>C | CA457448759 | CFTR | c.1023A>C (p.Ser341=) c.*920A>C (n.*920A>C) c.*847A>C (n.*847A>C) c.780A>C (p.Ser260=) c.933A>C (p.Ser311=) c.1113A>C (p.Ser371=) | dbSNP gnomAD v4 |
| 7 | g.117540253A>G | CA164953797 | CFTR | c.1023A>G (p.Ser341=) c.*920A>G (n.*920A>G) c.*847A>G (n.*847A>G) c.780A>G (p.Ser260=) c.933A>G (p.Ser311=) c.1113A>G (p.Ser371=) | dbSNP |
| 7 | g.117540253A>T | CA457448760 | CFTR | c.1023A>T (p.Ser341=) c.*920A>T (n.*920A>T) c.*847A>T (n.*847A>T) c.780A>T (p.Ser260=) c.933A>T (p.Ser311=) c.1113A>T (p.Ser371=) | |
| 7 | g.117540254T>A | CA368978815 | CFTR | c.1024T>A (p.Phe342Ile) c.*921T>A (n.*921T>A) c.*848T>A (n.*848T>A) c.781T>A (p.Phe261Ile) c.934T>A (p.Phe312Ile) c.1114T>A (p.Phe372Ile) | |
| 7 | g.117540254T>C | CA368978813 | CFTR | c.1024T>C (p.Phe342Leu) c.*921T>C (n.*921T>C) c.*848T>C (n.*848T>C) c.781T>C (p.Phe261Leu) c.934T>C (p.Phe312Leu) c.1114T>C (p.Phe372Leu) | |
| 7 | g.117540254T>G | CA368978814 | CFTR | c.1024T>G (p.Phe342Val) c.*921T>G (n.*921T>G) c.*848T>G (n.*848T>G) c.781T>G (p.Phe261Val) c.934T>G (p.Phe312Val) c.1114T>G (p.Phe372Val) | |
| 7 | g.117540255T>A | CA368978817 | CFTR | c.1025T>A (p.Phe342Tyr) c.*922T>A (n.*922T>A) c.*849T>A (n.*849T>A) c.782T>A (p.Phe261Tyr) c.935T>A (p.Phe312Tyr) c.1115T>A (p.Phe372Tyr) | |
| 7 | g.117540255T>C | CA368978818 | CFTR | c.1025T>C (p.Phe342Ser) c.*922T>C (n.*922T>C) c.*849T>C (n.*849T>C) c.782T>C (p.Phe261Ser) c.935T>C (p.Phe312Ser) c.1115T>C (p.Phe372Ser) | |
| 7 | g.117540255T>G | CA368978820 | CFTR | c.1025T>G (p.Phe342Cys) c.*922T>G (n.*922T>G) c.*849T>G (n.*849T>G) c.782T>G (p.Phe261Cys) c.935T>G (p.Phe312Cys) c.1115T>G (p.Phe372Cys) | |
| 7 | g.117540256_117540257dup | CA2573332342 | CFTR | c.1026_1027dup (p.Cys343SerfsTer27) c.*923_*924dup (n.*923_*924dup) c.*850_*851dup (n.*850_*851dup) c.783_784dup (p.Cys262SerfsTer27) c.936_937dup (p.Cys313SerfsTer27) c.1116_1117dup (p.Cys373SerfsTer27) | |
| 7 | g.117540256C>A | CA368978822 | CFTR | c.1026C>A (p.Phe342Leu) c.*923C>A (n.*923C>A) c.*850C>A (n.*850C>A) c.783C>A (p.Phe261Leu) c.936C>A (p.Phe312Leu) c.1116C>A (p.Phe372Leu) | |
| 7 | g.117540256C= | CA1737332253 | CFTR | c.1026C= (p.Phe342=) c.*923C= (n.*923C=) c.*850C= (n.*850C=) c.783C= (p.Phe261=) c.936C= (p.Phe312=) c.1116C= (p.Phe372=) | |
| 7 | g.117540256C>G | CA368978823 | CFTR | c.1026C>G (p.Phe342Leu) c.*923C>G (n.*923C>G) c.*850C>G (n.*850C>G) c.783C>G (p.Phe261Leu) c.936C>G (p.Phe312Leu) c.1116C>G (p.Phe372Leu) | |
| 7 | g.117540256C>T | CA164953804 | CFTR | c.1026C>T (p.Phe342=) c.*923C>T (n.*923C>T) c.*850C>T (n.*850C>T) c.783C>T (p.Phe261=) c.936C>T (p.Phe312=) c.1116C>T (p.Phe372=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540257T>A | CA368978825 | CFTR | c.1027T>A (p.Cys343Ser) c.*924T>A (n.*924T>A) c.*851T>A (n.*851T>A) c.784T>A (p.Cys262Ser) c.937T>A (p.Cys313Ser) c.1117T>A (p.Cys373Ser) | |
| 7 | g.117540257T>C | CA368978826 | CFTR | c.1027T>C (p.Cys343Arg) c.*924T>C (n.*924T>C) c.*851T>C (n.*851T>C) c.784T>C (p.Cys262Arg) c.937T>C (p.Cys313Arg) c.1117T>C (p.Cys373Arg) | ClinVar dbSNP |
| 7 | g.117540257T>G | CA368978827 | CFTR | c.1027T>G (p.Cys343Gly) c.*924T>G (n.*924T>G) c.*851T>G (n.*851T>G) c.784T>G (p.Cys262Gly) c.937T>G (p.Cys313Gly) c.1117T>G (p.Cys373Gly) | |
| 7 | g.117540258G>A | CA368978829 | CFTR | c.1028G>A (p.Cys343Tyr) c.*925G>A (n.*925G>A) c.*852G>A (n.*852G>A) c.785G>A (p.Cys262Tyr) c.938G>A (p.Cys313Tyr) c.1118G>A (p.Cys373Tyr) | |
| 7 | g.117540258G>C | CA368978830 | CFTR | c.1028G>C (p.Cys343Ser) c.*925G>C (n.*925G>C) c.*852G>C (n.*852G>C) c.785G>C (p.Cys262Ser) c.938G>C (p.Cys313Ser) c.1118G>C (p.Cys373Ser) |