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.117540293C>A | CA368978935 | CFTR | c.1063C>A (p.Pro355Thr) c.*960C>A (n.*960C>A) c.*887C>A (n.*887C>A) c.820C>A (p.Pro274Thr) c.973C>A (p.Pro325Thr) c.1153C>A (p.Pro385Thr) | |
| 7 | g.117540293C= | CA1737332495 | CFTR | c.1063C= (p.Pro355=) c.*960C= (n.*960C=) c.*887C= (n.*887C=) c.820C= (p.Pro274=) c.973C= (p.Pro325=) c.1153C= (p.Pro385=) | |
| 7 | g.117540293C>G | CA368978937 | CFTR | c.1063C>G (p.Pro355Ala) c.*960C>G (n.*960C>G) c.*887C>G (n.*887C>G) c.820C>G (p.Pro274Ala) c.973C>G (p.Pro325Ala) c.1153C>G (p.Pro385Ala) | |
| 7 | g.117540293C>T | CA164953972 | CFTR | c.1063C>T (p.Pro355Ser) c.*960C>T (n.*960C>T) c.*887C>T (n.*887C>T) c.820C>T (p.Pro274Ser) c.973C>T (p.Pro325Ser) c.1153C>T (p.Pro385Ser) | dbSNP COSMIC |
| 7 | g.117540294C>A | CA368978939 | CFTR | c.1064C>A (p.Pro355His) c.*961C>A (n.*961C>A) c.*888C>A (n.*888C>A) c.821C>A (p.Pro274His) c.974C>A (p.Pro325His) c.1154C>A (p.Pro385His) | |
| 7 | g.117540294C= | CA1737332500 | CFTR | c.1064C= (p.Pro355=) c.*961C= (n.*961C=) c.*888C= (n.*888C=) c.821C= (p.Pro274=) c.974C= (p.Pro325=) c.1154C= (p.Pro385=) | |
| 7 | g.117540294C>G | CA368978942 | CFTR | c.1064C>G (p.Pro355Arg) c.*961C>G (n.*961C>G) c.*888C>G (n.*888C>G) c.821C>G (p.Pro274Arg) c.974C>G (p.Pro325Arg) c.1154C>G (p.Pro385Arg) | |
| 7 | g.117540294C>T | CA4450884 | CFTR | c.1064C>T (p.Pro355Leu) c.*961C>T (n.*961C>T) c.*888C>T (n.*888C>T) c.821C>T (p.Pro274Leu) c.974C>T (p.Pro325Leu) c.1154C>T (p.Pro385Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540295C>A | CA457448782 | CFTR | c.1065C>A (p.Pro355=) c.*962C>A (n.*962C>A) c.*889C>A (n.*889C>A) c.822C>A (p.Pro274=) c.975C>A (p.Pro325=) c.1155C>A (p.Pro385=) | |
| 7 | g.117540295C>G | CA457448783 | CFTR | c.1065C>G (p.Pro355=) c.*962C>G (n.*962C>G) c.*889C>G (n.*889C>G) c.822C>G (p.Pro274=) c.975C>G (p.Pro325=) c.1155C>G (p.Pro385=) | |
| 7 | g.117540295C>T | CA457448784 | CFTR | c.1065C>T (p.Pro355=) c.*962C>T (n.*962C>T) c.*889C>T (n.*889C>T) c.822C>T (p.Pro274=) c.975C>T (p.Pro325=) c.1155C>T (p.Pro385=) | |
| 7 | g.117540295_117540302delinsCTGGGCTG | CA1737332504 | CFTR | c.1065_1072delinsCTGGGCTG (p.Pro355=) c.*962_*969delinsCTGGGCTG (n.*962_*969delinsCTGGGCTG) c.*889_*896delinsCTGGGCTG (n.*889_*896delinsCTGGGCTG) c.822_829delinsCTGGGCTG (p.Pro274=) c.975_982delinsCTGGGCTG (p.Pro325=) c.1155_1162delinsCTGGGCTG (p.Pro385=) | |
| 7 | g.117540296T>A | CA368978944 | CFTR | c.1066T>A (p.Trp356Arg) c.*963T>A (n.*963T>A) c.*890T>A (n.*890T>A) c.823T>A (p.Trp275Arg) c.976T>A (p.Trp326Arg) c.1156T>A (p.Trp386Arg) | dbSNP gnomAD v4 |
| 7 | g.117540296T>C | CA368978946 | CFTR | c.1066T>C (p.Trp356Arg) c.*963T>C (n.*963T>C) c.*890T>C (n.*890T>C) c.823T>C (p.Trp275Arg) c.976T>C (p.Trp326Arg) c.1156T>C (p.Trp386Arg) | gnomAD v4 |
| 7 | g.117540296T>G | CA368978948 | CFTR | c.1066T>G (p.Trp356Gly) c.*963T>G (n.*963T>G) c.*890T>G (n.*890T>G) c.823T>G (p.Trp275Gly) c.976T>G (p.Trp326Gly) c.1156T>G (p.Trp386Gly) | |
| 7 | g.117540296T= | CA1737332520 | CFTR | c.1066T= (p.Trp356=) c.*963T= (n.*963T=) c.*890T= (n.*890T=) c.823T= (p.Trp275=) c.976T= (p.Trp326=) c.1156T= (p.Trp386=) | |
| 7 | g.117540296_117540297delinsTG | CA1737332519 | CFTR | c.1066_1067delinsTG (p.Trp356=) c.*963_*964delinsTG (n.*963_*964delinsTG) c.*890_*891delinsTG (n.*890_*891delinsTG) c.823_824delinsTG (p.Trp275=) c.976_977delinsTG (p.Trp326=) c.1156_1157delinsTG (p.Trp386=) | |
| 7 | g.117540296_117540301del | CA2573141569 | CFTR | c.1066_1071del (p.Trp356_Ala357del) c.*963_*968del (n.*963_*968del) c.*890_*895del (n.*890_*895del) c.823_828del (p.Trp275_Ala276del) c.976_981del (p.Trp326_Ala327del) c.1156_1161del (p.Trp386_Ala387del) | ClinVar dbSNP |
| 7 | g.117540296_117540301delinsA | CA2695208312 | CFTR | c.1066_1071delinsA (p.Trp356SerfsTer6) c.*963_*968delinsA (n.*963_*968delinsA) c.*890_*895delinsA (n.*890_*895delinsA) c.823_828delinsA (p.Trp275SerfsTer6) c.976_981delinsA (p.Trp326SerfsTer6) c.1156_1161delinsA (p.Trp386SerfsTer6) | |
| 7 | g.117540296_117540302delinsA | CA247542 | CFTR | c.1066_1072delinsA (p.Trp356_Val358delinsIle) c.*963_*969delinsA (n.*963_*969delinsA) c.*890_*896delinsA (n.*890_*896delinsA) c.823_829delinsA (p.Trp275_Val277delinsIle) c.976_982delinsA (p.Trp326_Val328delinsIle) c.1156_1162delinsA (p.Trp386_Val388delinsIle) | ClinVar dbSNP |
| 7 | g.117540298_117540317del | CA2695208311 | CFTR | c.1068_1087del (p.Trp356Ter) c.*965_*984del (n.*965_*984del) c.*892_*911del (n.*892_*911del) c.825_844del (p.Trp275Ter) c.978_997del (p.Trp326Ter) c.1158_1177del (p.Trp386Ter) | |
| 7 | g.117540297G>A | CA368978949 | CFTR | c.1067G>A (p.Trp356Ter) c.*964G>A (n.*964G>A) c.*891G>A (n.*891G>A) c.824G>A (p.Trp275Ter) c.977G>A (p.Trp326Ter) c.1157G>A (p.Trp386Ter) | ClinVar |
| 7 | g.117540297G>C | CA4450885 | CFTR | c.1067G>C (p.Trp356Ser) c.*964G>C (n.*964G>C) c.*891G>C (n.*891G>C) c.824G>C (p.Trp275Ser) c.977G>C (p.Trp326Ser) c.1157G>C (p.Trp386Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117540297G= | CA1737332536 | CFTR | c.1067G= (p.Trp356=) c.*964G= (n.*964G=) c.*891G= (n.*891G=) c.824G= (p.Trp275=) c.977G= (p.Trp326=) c.1157G= (p.Trp386=) | |
| 7 | g.117540297G>T | CA368978950 | CFTR | c.1067G>T (p.Trp356Leu) c.*964G>T (n.*964G>T) c.*891G>T (n.*891G>T) c.824G>T (p.Trp275Leu) c.977G>T (p.Trp326Leu) c.1157G>T (p.Trp386Leu) | |
| 7 | g.117540299del | CA326386 | CFTR | c.1069del (p.Ala357LeufsTer12) c.*966del (n.*966del) c.*893del (n.*893del) c.826del (p.Ala276LeufsTer12) c.979del (p.Ala327LeufsTer12) c.1159del (p.Ala387LeufsTer12) | ClinVar dbSNP |
| 7 | g.117540298G>A | CA326384 | CFTR | c.1068G>A (p.Trp356Ter) c.*965G>A (n.*965G>A) c.*892G>A (n.*892G>A) c.825G>A (p.Trp275Ter) c.978G>A (p.Trp326Ter) c.1158G>A (p.Trp386Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540298G>C | CA368978953 | CFTR | c.1068G>C (p.Trp356Cys) c.*965G>C (n.*965G>C) c.*892G>C (n.*892G>C) c.825G>C (p.Trp275Cys) c.978G>C (p.Trp326Cys) c.1158G>C (p.Trp386Cys) | |
| 7 | g.117540298G= | CA1737332540 | CFTR | c.1068G= (p.Trp356=) c.*965G= (n.*965G=) c.*892G= (n.*892G=) c.825G= (p.Trp275=) c.978G= (p.Trp326=) c.1158G= (p.Trp386=) | |
| 7 | g.117540298G>T | CA368978955 | CFTR | c.1068G>T (p.Trp356Cys) c.*965G>T (n.*965G>T) c.*892G>T (n.*892G>T) c.825G>T (p.Trp275Cys) c.978G>T (p.Trp326Cys) c.1158G>T (p.Trp386Cys) | |
| 7 | g.117540299G>A | CA368978956 | CFTR | c.1069G>A (p.Ala357Thr) c.*966G>A (n.*966G>A) c.*893G>A (n.*893G>A) c.826G>A (p.Ala276Thr) c.979G>A (p.Ala327Thr) c.1159G>A (p.Ala387Thr) | |
| 7 | g.117540299G>C | CA368978957 | CFTR | c.1069G>C (p.Ala357Pro) c.*966G>C (n.*966G>C) c.*893G>C (n.*893G>C) c.826G>C (p.Ala276Pro) c.979G>C (p.Ala327Pro) c.1159G>C (p.Ala387Pro) | |
| 7 | g.117540299G>T | CA368978958 | CFTR | c.1069G>T (p.Ala357Ser) c.*966G>T (n.*966G>T) c.*893G>T (n.*893G>T) c.826G>T (p.Ala276Ser) c.979G>T (p.Ala327Ser) c.1159G>T (p.Ala387Ser) | |
| 7 | g.117540300C>A | CA368978961 | CFTR | c.1070C>A (p.Ala357Asp) c.*967C>A (n.*967C>A) c.*894C>A (n.*894C>A) c.827C>A (p.Ala276Asp) c.980C>A (p.Ala327Asp) c.1160C>A (p.Ala387Asp) | |
| 7 | g.117540300C>G | CA368978962 | CFTR | c.1070C>G (p.Ala357Gly) c.*967C>G (n.*967C>G) c.*894C>G (n.*894C>G) c.827C>G (p.Ala276Gly) c.980C>G (p.Ala327Gly) c.1160C>G (p.Ala387Gly) | |
| 7 | g.117540300C>T | CA368978964 | CFTR | c.1070C>T (p.Ala357Val) c.*967C>T (n.*967C>T) c.*894C>T (n.*894C>T) c.827C>T (p.Ala276Val) c.980C>T (p.Ala327Val) c.1160C>T (p.Ala387Val) | ClinVar |
| 7 | g.117540301T>A | CA457448785 | CFTR | c.1071T>A (p.Ala357=) c.*968T>A (n.*968T>A) c.*895T>A (n.*895T>A) c.828T>A (p.Ala276=) c.981T>A (p.Ala327=) c.1161T>A (p.Ala387=) | |
| 7 | g.117540301T>C | CA457448786 | CFTR | c.1071T>C (p.Ala357=) c.*968T>C (n.*968T>C) c.*895T>C (n.*895T>C) c.828T>C (p.Ala276=) c.981T>C (p.Ala327=) c.1161T>C (p.Ala387=) | ClinVar |
| 7 | g.117540301T>G | CA457448787 | CFTR | c.1071T>G (p.Ala357=) c.*968T>G (n.*968T>G) c.*895T>G (n.*895T>G) c.828T>G (p.Ala276=) c.981T>G (p.Ala327=) c.1161T>G (p.Ala387=) | |
| 7 | g.117540302G>A | CA368978967 | CFTR | c.1072G>A (p.Val358Ile) c.*969G>A (n.*969G>A) c.*896G>A (n.*896G>A) c.829G>A (p.Val277Ile) c.982G>A (p.Val328Ile) c.1162G>A (p.Val388Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540302G>C | CA368978966 | CFTR | c.1072G>C (p.Val358Leu) c.*969G>C (n.*969G>C) c.*896G>C (n.*896G>C) c.829G>C (p.Val277Leu) c.982G>C (p.Val328Leu) c.1162G>C (p.Val388Leu) | |
| 7 | g.117540302G= | CA1737332547 | CFTR | c.1072G= (p.Val358=) c.*969G= (n.*969G=) c.*896G= (n.*896G=) c.829G= (p.Val277=) c.982G= (p.Val328=) c.1162G= (p.Val388=) | |
| 7 | g.117540302G>T | CA368978965 | CFTR | c.1072G>T (p.Val358Leu) c.*969G>T (n.*969G>T) c.*896G>T (n.*896G>T) c.829G>T (p.Val277Leu) c.982G>T (p.Val328Leu) c.1162G>T (p.Val388Leu) | |
| 7 | g.117540303T>A | CA368978969 | CFTR | c.1073T>A (p.Val358Glu) c.*970T>A (n.*970T>A) c.*897T>A (n.*897T>A) c.830T>A (p.Val277Glu) c.983T>A (p.Val328Glu) c.1163T>A (p.Val388Glu) | |
| 7 | g.117540303T>C | CA164954011 | CFTR | c.1073T>C (p.Val358Ala) c.*970T>C (n.*970T>C) c.*897T>C (n.*897T>C) c.830T>C (p.Val277Ala) c.983T>C (p.Val328Ala) c.1163T>C (p.Val388Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540303T>G | CA368978970 | CFTR | c.1073T>G (p.Val358Gly) c.*970T>G (n.*970T>G) c.*897T>G (n.*897T>G) c.830T>G (p.Val277Gly) c.983T>G (p.Val328Gly) c.1163T>G (p.Val388Gly) | |
| 7 | g.117540303T= | CA1737332550 | CFTR | c.1073T= (p.Val358=) c.*970T= (n.*970T=) c.*897T= (n.*897T=) c.830T= (p.Val277=) c.983T= (p.Val328=) c.1163T= (p.Val388=) | |
| 7 | g.117540304A= | CA1737332551 | CFTR | c.1074A= (p.Val358=) c.*971A= (n.*971A=) c.*898A= (n.*898A=) c.831A= (p.Val277=) c.984A= (p.Val328=) c.1164A= (p.Val388=) |