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.117540223C>A | CA457448738 | CFTR | c.993C>A (p.Ile331=) c.*890C>A (n.*890C>A) c.*817C>A (n.*817C>A) c.750C>A (p.Ile250=) c.903C>A (p.Ile301=) c.1083C>A (p.Ile361=) | |
| 7 | g.117540223C>G | CA368978678 | CFTR | c.993C>G (p.Ile331Met) c.*890C>G (n.*890C>G) c.*817C>G (n.*817C>G) c.750C>G (p.Ile250Met) c.903C>G (p.Ile301Met) c.1083C>G (p.Ile361Met) | |
| 7 | g.117540223C>T | CA457448739 | CFTR | c.993C>T (p.Ile331=) c.*890C>T (n.*890C>T) c.*817C>T (n.*817C>T) c.750C>T (p.Ile250=) c.903C>T (p.Ile301=) c.1083C>T (p.Ile361=) | ClinVar dbSNP |
| 7 | g.117540224A>C | CA368978679 | CFTR | c.994A>C (p.Ile332Leu) c.*891A>C (n.*891A>C) c.*818A>C (n.*818A>C) c.751A>C (p.Ile251Leu) c.904A>C (p.Ile302Leu) c.1084A>C (p.Ile362Leu) | |
| 7 | g.117540224A>G | CA368978682 | CFTR | c.994A>G (p.Ile332Val) c.*891A>G (n.*891A>G) c.*818A>G (n.*818A>G) c.751A>G (p.Ile251Val) c.904A>G (p.Ile302Val) c.1084A>G (p.Ile362Val) | |
| 7 | g.117540224A>T | CA368978685 | CFTR | c.994A>T (p.Ile332Phe) c.*891A>T (n.*891A>T) c.*818A>T (n.*818A>T) c.751A>T (p.Ile251Phe) c.904A>T (p.Ile302Phe) c.1084A>T (p.Ile362Phe) | |
| 7 | g.117540225T>A | CA368978687 | CFTR | c.995T>A (p.Ile332Asn) c.*892T>A (n.*892T>A) c.*819T>A (n.*819T>A) c.752T>A (p.Ile251Asn) c.905T>A (p.Ile302Asn) c.1085T>A (p.Ile362Asn) | |
| 7 | g.117540225T>C | CA368978688 | CFTR | c.995T>C (p.Ile332Thr) c.*892T>C (n.*892T>C) c.*819T>C (n.*819T>C) c.752T>C (p.Ile251Thr) c.905T>C (p.Ile302Thr) c.1085T>C (p.Ile362Thr) | |
| 7 | g.117540225T>G | CA368978691 | CFTR | c.995T>G (p.Ile332Ser) c.*892T>G (n.*892T>G) c.*819T>G (n.*819T>G) c.752T>G (p.Ile251Ser) c.905T>G (p.Ile302Ser) c.1085T>G (p.Ile362Ser) | |
| 7 | g.117540226C>A | CA457448740 | CFTR | c.996C>A (p.Ile332=) c.*893C>A (n.*893C>A) c.*820C>A (n.*820C>A) c.753C>A (p.Ile251=) c.906C>A (p.Ile302=) c.1086C>A (p.Ile362=) | ClinVar |
| 7 | g.117540226C>G | CA368978693 | CFTR | c.996C>G (p.Ile332Met) c.*893C>G (n.*893C>G) c.*820C>G (n.*820C>G) c.753C>G (p.Ile251Met) c.906C>G (p.Ile302Met) c.1086C>G (p.Ile362Met) | |
| 7 | g.117540226C>T | CA457448741 | CFTR | c.996C>T (p.Ile332=) c.*893C>T (n.*893C>T) c.*820C>T (n.*820C>T) c.753C>T (p.Ile251=) c.906C>T (p.Ile302=) c.1086C>T (p.Ile362=) | ClinVar COSMIC |
| 7 | g.117540227C>A | CA368978696 | CFTR | c.997C>A (p.Leu333Ile) c.*894C>A (n.*894C>A) c.*821C>A (n.*821C>A) c.754C>A (p.Leu252Ile) c.907C>A (p.Leu303Ile) c.1087C>A (p.Leu363Ile) | |
| 7 | g.117540227C= | CA1737332092 | CFTR | c.997C= (p.Leu333=) c.*894C= (n.*894C=) c.*821C= (n.*821C=) c.754C= (p.Leu252=) c.907C= (p.Leu303=) c.1087C= (p.Leu363=) | |
| 7 | g.117540227C>G | CA368978724 | CFTR | c.997C>G (p.Leu333Val) c.*894C>G (n.*894C>G) c.*821C>G (n.*821C>G) c.754C>G (p.Leu252Val) c.907C>G (p.Leu303Val) c.1087C>G (p.Leu363Val) | |
| 7 | g.117540227C>T | CA260262 | CFTR | c.997C>T (p.Leu333Phe) c.*894C>T (n.*894C>T) c.*821C>T (n.*821C>T) c.754C>T (p.Leu252Phe) c.907C>T (p.Leu303Phe) c.1087C>T (p.Leu363Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540228T>A | CA368978727 | CFTR | c.998T>A (p.Leu333His) c.*895T>A (n.*895T>A) c.*822T>A (n.*822T>A) c.755T>A (p.Leu252His) c.908T>A (p.Leu303His) c.1088T>A (p.Leu363His) | gnomAD v4 |
| 7 | g.117540228T>C | CA368978731 | CFTR | c.998T>C (p.Leu333Pro) c.*895T>C (n.*895T>C) c.*822T>C (n.*822T>C) c.755T>C (p.Leu252Pro) c.908T>C (p.Leu303Pro) c.1088T>C (p.Leu363Pro) | gnomAD v4 |
| 7 | g.117540228T>G | CA368978730 | CFTR | c.998T>G (p.Leu333Arg) c.*895T>G (n.*895T>G) c.*822T>G (n.*822T>G) c.755T>G (p.Leu252Arg) c.908T>G (p.Leu303Arg) c.1088T>G (p.Leu363Arg) | |
| 7 | g.117540229C>A | CA457448742 | CFTR | c.999C>A (p.Leu333=) c.*896C>A (n.*896C>A) c.*823C>A (n.*823C>A) c.756C>A (p.Leu252=) c.909C>A (p.Leu303=) c.1089C>A (p.Leu363=) | |
| 7 | g.117540229C>G | CA457448743 | CFTR | c.999C>G (p.Leu333=) c.*896C>G (n.*896C>G) c.*823C>G (n.*823C>G) c.756C>G (p.Leu252=) c.909C>G (p.Leu303=) c.1089C>G (p.Leu363=) | |
| 7 | g.117540229C>T | CA457448744 | CFTR | c.999C>T (p.Leu333=) c.*896C>T (n.*896C>T) c.*823C>T (n.*823C>T) c.756C>T (p.Leu252=) c.909C>T (p.Leu303=) c.1089C>T (p.Leu363=) | COSMIC |
| 7 | g.117540230C>A | CA457448745 | CFTR | c.1000C>A (p.Arg334=) c.*897C>A (n.*897C>A) c.*824C>A (n.*824C>A) c.757C>A (p.Arg253=) c.910C>A (p.Arg304=) c.1090C>A (p.Arg364=) | |
| 7 | g.117540230C= | CA1737332096 | CFTR | c.1000C= (p.Arg334=) c.*897C= (n.*897C=) c.*824C= (n.*824C=) c.757C= (p.Arg253=) c.910C= (p.Arg304=) c.1090C= (p.Arg364=) | |
| 7 | g.117540230C>G | CA368978733 | CFTR | c.1000C>G (p.Arg334Gly) c.*897C>G (n.*897C>G) c.*824C>G (n.*824C>G) c.757C>G (p.Arg253Gly) c.910C>G (p.Arg304Gly) c.1090C>G (p.Arg364Gly) | |
| 7 | g.117540230C>T | CA340644 | CFTR | c.1000C>T (p.Arg334Trp) c.*897C>T (n.*897C>T) c.*824C>T (n.*824C>T) c.757C>T (p.Arg253Trp) c.910C>T (p.Arg304Trp) c.1090C>T (p.Arg364Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540231G>A | CA326358 | CFTR | c.1001G>A (p.Arg334Gln) c.*898G>A (n.*898G>A) c.*825G>A (n.*825G>A) c.758G>A (p.Arg253Gln) c.911G>A (p.Arg304Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540231G>C | CA368978737 | CFTR | c.1001G>C (p.Arg334Pro) c.*898G>C (n.*898G>C) c.*825G>C (n.*825G>C) c.758G>C (p.Arg253Pro) c.911G>C (p.Arg304Pro) c.1091G>C (p.Arg364Pro) | |
| 7 | g.117540231G= | CA1737332108 | CFTR | c.1001G= (p.Arg334=) c.*898G= (n.*898G=) c.*825G= (n.*825G=) c.758G= (p.Arg253=) c.911G= (p.Arg304=) c.1091G= (p.Arg364=) | |
| 7 | g.117540231G>T | CA326360 | CFTR | c.1001G>T (p.Arg334Leu) c.*898G>T (n.*898G>T) c.*825G>T (n.*825G>T) c.758G>T (p.Arg253Leu) c.911G>T (p.Arg304Leu) c.1091G>T (p.Arg364Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540232G>A | CA164953708 | CFTR | c.1002G>A (p.Arg334=) c.*899G>A (n.*899G>A) c.*826G>A (n.*826G>A) c.759G>A (p.Arg253=) c.912G>A (p.Arg304=) c.1092G>A (p.Arg364=) | dbSNP |
| 7 | g.117540232G>C | CA457448746 | CFTR | c.1002G>C (p.Arg334=) c.*899G>C (n.*899G>C) c.*826G>C (n.*826G>C) c.759G>C (p.Arg253=) c.912G>C (p.Arg304=) c.1092G>C (p.Arg364=) | |
| 7 | g.117540232G= | CA1737332123 | CFTR | c.1002G= (p.Arg334=) c.*899G= (n.*899G=) c.*826G= (n.*826G=) c.759G= (p.Arg253=) c.912G= (p.Arg304=) c.1092G= (p.Arg364=) | |
| 7 | g.117540232G>T | CA457448747 | CFTR | c.1002G>T (p.Arg334=) c.*899G>T (n.*899G>T) c.*826G>T (n.*826G>T) c.759G>T (p.Arg253=) c.912G>T (p.Arg304=) c.1092G>T (p.Arg364=) | |
| 7 | g.117540233A= | CA1737332131 | CFTR | c.1003A= (p.Lys335=) c.*900A= (n.*900A=) c.*827A= (n.*827A=) c.760A= (p.Lys254=) c.913A= (p.Lys305=) c.1093A= (p.Lys365=) | |
| 7 | g.117540233A>C | CA368978740 | CFTR | c.1003A>C (p.Lys335Gln) c.*900A>C (n.*900A>C) c.*827A>C (n.*827A>C) c.760A>C (p.Lys254Gln) c.913A>C (p.Lys305Gln) c.1093A>C (p.Lys365Gln) | |
| 7 | g.117540233A>G | CA368978742 | CFTR | c.1003A>G (p.Lys335Glu) c.*900A>G (n.*900A>G) c.*827A>G (n.*827A>G) c.760A>G (p.Lys254Glu) c.913A>G (p.Lys305Glu) c.1093A>G (p.Lys365Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540233A>T | CA368978744 | CFTR | c.1003A>T (p.Lys335Ter) c.*900A>T (n.*900A>T) c.*827A>T (n.*827A>T) c.760A>T (p.Lys254Ter) c.913A>T (p.Lys305Ter) c.1093A>T (p.Lys365Ter) | |
| 7 | g.117540236del | CA2695208308 | CFTR | c.1006del (p.Ile336TyrfsTer?) c.*903del (n.*903del) c.*830del (n.*830del) c.763del (p.Ile255TyrfsTer?) c.916del (p.Ile306TyrfsTer?) c.1096del (p.Ile366TyrfsTer?) | |
| 7 | g.117540234A>C | CA368978745 | CFTR | c.1004A>C (p.Lys335Thr) c.*901A>C (n.*901A>C) c.*828A>C (n.*828A>C) c.761A>C (p.Lys254Thr) c.914A>C (p.Lys305Thr) c.1094A>C (p.Lys365Thr) | |
| 7 | g.117540234A>G | CA368978747 | CFTR | c.1004A>G (p.Lys335Arg) c.*901A>G (n.*901A>G) c.*828A>G (n.*828A>G) c.761A>G (p.Lys254Arg) c.914A>G (p.Lys305Arg) c.1094A>G (p.Lys365Arg) | |
| 7 | g.117540234A>T | CA368978748 | CFTR | c.1004A>T (p.Lys335Ile) c.*901A>T (n.*901A>T) c.*828A>T (n.*828A>T) c.761A>T (p.Lys254Ile) c.914A>T (p.Lys305Ile) c.1094A>T (p.Lys365Ile) | COSMIC |
| 7 | g.117540235A= | CA1737332135 | CFTR | c.1005A= (p.Lys335=) c.*902A= (n.*902A=) c.*829A= (n.*829A=) c.762A= (p.Lys254=) c.915A= (p.Lys305=) c.1095A= (p.Lys365=) | |
| 7 | g.117540235A>C | CA368978751 | CFTR | c.1005A>C (p.Lys335Asn) c.*902A>C (n.*902A>C) c.*829A>C (n.*829A>C) c.762A>C (p.Lys254Asn) c.915A>C (p.Lys305Asn) c.1095A>C (p.Lys365Asn) | |
| 7 | g.117540235A>G | CA457448748 | CFTR | c.1005A>G (p.Lys335=) c.*902A>G (n.*902A>G) c.*829A>G (n.*829A>G) c.762A>G (p.Lys254=) c.915A>G (p.Lys305=) c.1095A>G (p.Lys365=) | |
| 7 | g.117540235A>T | CA368978750 | CFTR | c.1005A>T (p.Lys335Asn) c.*902A>T (n.*902A>T) c.*829A>T (n.*829A>T) c.762A>T (p.Lys254Asn) c.915A>T (p.Lys305Asn) c.1095A>T (p.Lys365Asn) | |
| 7 | g.117540236A= | CA1737332152 | CFTR | c.1006A= (p.Ile336=) c.*903A= (n.*903A=) c.*830A= (n.*830A=) c.763A= (p.Ile255=) c.916A= (p.Ile306=) c.1096A= (p.Ile366=) | |
| 7 | g.117540236A>C | CA368978752 | CFTR | c.1006A>C (p.Ile336Leu) c.*903A>C (n.*903A>C) c.*830A>C (n.*830A>C) c.763A>C (p.Ile255Leu) c.916A>C (p.Ile306Leu) c.1096A>C (p.Ile366Leu) |