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.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
| 7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
| 7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
| 7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
| 7 | g.117530919_117530960del | CA2695208292 | CFTR | c.294_335del (p.Gln98_Asp112delinsHis) c.*191_*232del (n.*191_*232del) c.*118_*159del (n.*118_*159del) c.51_92del (p.Gln17_Asp31delinsHis) c.384_425del (p.Gln128_Asp142delinsHis) | |
| 7 | g.117530944_117530951del | CA327090 | CFTR | c.319_326del (p.Ala107Ter) c.*216_*223del (n.*216_*223del) c.*143_*150del (n.*143_*150del) c.76_83del (p.Ala26Ter) c.409_416del (p.Ala137Ter) | ClinVar dbSNP |
| 7 | g.117530949_117530952delinsCTAT | CA1737359260 | CFTR | c.324_327delinsCTAT (p.Ser108=) c.*221_*224delinsCTAT (n.*221_*224delinsCTAT) c.*148_*151delinsCTAT (n.*148_*151delinsCTAT) c.81_84delinsCTAT (p.Ser27=) c.414_417delinsCTAT (p.Ser138=) | |
| 7 | g.117530950T>A | CA327114 | CFTR | c.325T>A (p.Tyr109Asn) c.*222T>A (n.*222T>A) c.*149T>A (n.*149T>A) c.82T>A (p.Tyr28Asn) c.415T>A (p.Tyr139Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530950T>C | CA368974380 | CFTR | c.325T>C (p.Tyr109His) c.*222T>C (n.*222T>C) c.*149T>C (n.*149T>C) c.82T>C (p.Tyr28His) c.415T>C (p.Tyr139His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530950T>G | CA368974381 | CFTR | c.325T>G (p.Tyr109Asp) c.*222T>G (n.*222T>G) c.*149T>G (n.*149T>G) c.82T>G (p.Tyr28Asp) c.415T>G (p.Tyr139Asp) | dbSNP |
| 7 | g.117530950T= | CA1737359270 | CFTR | c.325T= (p.Tyr109=) c.*222T= (n.*222T=) c.*149T= (n.*149T=) c.82T= (p.Tyr28=) c.415T= (p.Tyr139=) | |
| 7 | g.117530950_117530952delinsG | CA328112 | CFTR | c.325_327delinsG (p.Tyr109GlyfsTer4) c.*222_*224delinsG (n.*222_*224delinsG) c.*149_*151delinsG (n.*149_*151delinsG) c.82_84delinsG (p.Tyr28GlyfsTer4) c.415_417delinsG (p.Tyr139GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117530951_117530952del | CA327120 | CFTR | c.326_327del (p.Tyr109Ter) c.*223_*224del (n.*223_*224del) c.*150_*151del (n.*150_*151del) c.83_84del (p.Tyr28Ter) c.416_417del (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530950_117530951insG | CA923726135 | CFTR | c.325_326insG (p.Tyr109Ter) c.*222_*223insG (n.*222_*223insG) c.*149_*150insG (n.*149_*150insG) c.82_83insG (p.Tyr28Ter) c.415_416insG (p.Tyr139Ter) | |
| 7 | g.117530951A= | CA1737359280 | CFTR | c.326A= (p.Tyr109=) c.*223A= (n.*223A=) c.*150A= (n.*150A=) c.83A= (p.Tyr28=) c.416A= (p.Tyr139=) | |
| 7 | g.117530951A>C | CA368974382 | CFTR | c.326A>C (p.Tyr109Ser) c.*223A>C (n.*223A>C) c.*150A>C (n.*150A>C) c.83A>C (p.Tyr28Ser) c.416A>C (p.Tyr139Ser) | |
| 7 | g.117530951A>G | CA325582 | CFTR | c.326A>G (p.Tyr109Cys) c.*223A>G (n.*223A>G) c.*150A>G (n.*150A>G) c.83A>G (p.Tyr28Cys) c.416A>G (p.Tyr139Cys) | ClinVar dbSNP COSMIC |
| 7 | g.117530951A>T | CA368974383 | CFTR | c.326A>T (p.Tyr109Phe) c.*223A>T (n.*223A>T) c.*150A>T (n.*150A>T) c.83A>T (p.Tyr28Phe) c.416A>T (p.Tyr139Phe) | |
| 7 | g.117530952T>A | CA327123 | CFTR | c.327T>A (p.Tyr109Ter) c.*224T>A (n.*224T>A) c.*151T>A (n.*151T>A) c.84T>A (p.Tyr28Ter) c.417T>A (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T>C | CA457448601 | CFTR | c.327T>C (p.Tyr109=) c.*224T>C (n.*224T>C) c.*151T>C (n.*151T>C) c.84T>C (p.Tyr28=) c.417T>C (p.Tyr139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530952T>G | CA368974384 | CFTR | c.327T>G (p.Tyr109Ter) c.*224T>G (n.*224T>G) c.*151T>G (n.*151T>G) c.84T>G (p.Tyr28Ter) c.417T>G (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T= | CA1737359286 | CFTR | c.327T= (p.Tyr109=) c.*224T= (n.*224T=) c.*151T= (n.*151T=) c.84T= (p.Tyr28=) c.417T= (p.Tyr139=) | |
| 7 | g.117530952_117530953delinsTG | CA1737359289 | CFTR | c.327_328delinsTG (p.Tyr109=) c.*224_*225delinsTG (n.*224_*225delinsTG) c.*151_*152delinsTG (n.*151_*152delinsTG) c.84_85delinsTG (p.Tyr28=) c.417_418delinsTG (p.Tyr139=) | |
| 7 | g.117530953del | CA327129 | CFTR | c.328del (p.Asp110ThrfsTer14) c.*225del (n.*225del) c.*152del (n.*152del) c.85del (p.Asp29ThrfsTer14) c.85del (p.Asp29ThrfsTer?) c.418del (p.Asp140ThrfsTer14) | ClinVar dbSNP |
| 7 | g.117530953G>A | CA368974385 | CFTR | c.328G>A (p.Asp110Asn) c.*225G>A (n.*225G>A) c.*152G>A (n.*152G>A) c.85G>A (p.Asp29Asn) c.418G>A (p.Asp140Asn) | ClinVar dbSNP |
| 7 | g.117530953G>C | CA284835 | CFTR | c.328G>C (p.Asp110His) c.*225G>C (n.*225G>C) c.*152G>C (n.*152G>C) c.85G>C (p.Asp29His) c.418G>C (p.Asp140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530953G= | CA1737359299 | CFTR | c.328G= (p.Asp110=) c.*225G= (n.*225G=) c.*152G= (n.*152G=) c.85G= (p.Asp29=) c.418G= (p.Asp140=) | |
| 7 | g.117530953G>T | CA327127 | CFTR | c.328G>T (p.Asp110Tyr) c.*225G>T (n.*225G>T) c.*152G>T (n.*152G>T) c.85G>T (p.Asp29Tyr) c.418G>T (p.Asp140Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530954A>C | CA368974386 | CFTR | c.329A>C (p.Asp110Ala) c.*226A>C (n.*226A>C) c.*153A>C (n.*153A>C) c.86A>C (p.Asp29Ala) c.419A>C (p.Asp140Ala) | |
| 7 | g.117530954A>G | CA368974387 | CFTR | c.329A>G (p.Asp110Gly) c.*226A>G (n.*226A>G) c.*153A>G (n.*153A>G) c.86A>G (p.Asp29Gly) c.419A>G (p.Asp140Gly) | |
| 7 | g.117530954A>T | CA368974389 | CFTR | c.329A>T (p.Asp110Val) c.*226A>T (n.*226A>T) c.*153A>T (n.*153A>T) c.86A>T (p.Asp29Val) c.419A>T (p.Asp140Val) | ClinVar |
| 7 | g.117530955C>A | CA327140 | CFTR | c.330C>A (p.Asp110Glu) c.*227C>A (n.*227C>A) c.*154C>A (n.*154C>A) c.87C>A (p.Asp29Glu) c.420C>A (p.Asp140Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530955C= | CA1737359306 | CFTR | c.330C= (p.Asp110=) c.*227C= (n.*227C=) c.*154C= (n.*154C=) c.87C= (p.Asp29=) c.420C= (p.Asp140=) | |
| 7 | g.117530955C>G | CA368974391 | CFTR | c.330C>G (p.Asp110Glu) c.*227C>G (n.*227C>G) c.*154C>G (n.*154C>G) c.87C>G (p.Asp29Glu) c.420C>G (p.Asp140Glu) | ClinVar |
| 7 | g.117530955C>T | CA457448602 | CFTR | c.330C>T (p.Asp110=) c.*227C>T (n.*227C>T) c.*154C>T (n.*154C>T) c.87C>T (p.Asp29=) c.420C>T (p.Asp140=) | ClinVar |
| 7 | g.117530957del | CA2573141539 | CFTR | c.332del (p.Pro111ArgfsTer13) c.*229del (n.*229del) c.*156del (n.*156del) c.89del (p.Pro30ArgfsTer13) c.89del (p.Pro30ArgfsTer?) c.422del (p.Pro141ArgfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530956C>A | CA368974393 | CFTR | c.331C>A (p.Pro111Thr) c.*228C>A (n.*228C>A) c.*155C>A (n.*155C>A) c.88C>A (p.Pro30Thr) c.421C>A (p.Pro141Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530956C= | CA1737359309 | CFTR | c.331C= (p.Pro111=) c.*228C= (n.*228C=) c.*155C= (n.*155C=) c.88C= (p.Pro30=) c.421C= (p.Pro141=) | |
| 7 | g.117530956C>G | CA327145 | CFTR | c.331C>G (p.Pro111Ala) c.*228C>G (n.*228C>G) c.*155C>G (n.*155C>G) c.88C>G (p.Pro30Ala) c.421C>G (p.Pro141Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530956C>T | CA368974394 | CFTR | c.331C>T (p.Pro111Ser) c.*228C>T (n.*228C>T) c.*155C>T (n.*155C>T) c.88C>T (p.Pro30Ser) c.421C>T (p.Pro141Ser) | gnomAD v4 |
| 7 | g.117530957C>A | CA368974397 | CFTR | c.332C>A (p.Pro111Gln) c.*229C>A (n.*229C>A) c.*156C>A (n.*156C>A) c.89C>A (p.Pro30Gln) c.422C>A (p.Pro141Gln) | |
| 7 | g.117530957C= | CA1737359313 | CFTR | c.332C= (p.Pro111=) c.*229C= (n.*229C=) c.*156C= (n.*156C=) c.89C= (p.Pro30=) c.422C= (p.Pro141=) | |
| 7 | g.117530957C>G | CA10606587 | CFTR | c.332C>G (p.Pro111Arg) c.*229C>G (n.*229C>G) c.*156C>G (n.*156C>G) c.89C>G (p.Pro30Arg) c.422C>G (p.Pro141Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530957C>T | CA327149 | CFTR | c.332C>T (p.Pro111Leu) c.*229C>T (n.*229C>T) c.*156C>T (n.*156C>T) c.89C>T (p.Pro30Leu) c.422C>T (p.Pro141Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530958G>A | CA4450706 | CFTR | c.333G>A (p.Pro111=) c.*230G>A (n.*230G>A) c.*157G>A (n.*157G>A) c.90G>A (p.Pro30=) c.423G>A (p.Pro141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530958G>C | CA457448604 | CFTR | c.333G>C (p.Pro111=) c.*230G>C (n.*230G>C) c.*157G>C (n.*157G>C) c.90G>C (p.Pro30=) c.423G>C (p.Pro141=) | |
| 7 | g.117530958G= | CA1737359316 | CFTR | c.333G= (p.Pro111=) c.*230G= (n.*230G=) c.*157G= (n.*157G=) c.90G= (p.Pro30=) c.423G= (p.Pro141=) | |
| 7 | g.117530958G>T | CA457448605 | CFTR | c.333G>T (p.Pro111=) c.*230G>T (n.*230G>T) c.*157G>T (n.*157G>T) c.90G>T (p.Pro30=) c.423G>T (p.Pro141=) | |
| 7 | g.117530959G>A | CA4450707 | CFTR | c.334G>A (p.Asp112Asn) c.*231G>A (n.*231G>A) c.*158G>A (n.*158G>A) c.91G>A (p.Asp31Asn) c.424G>A (p.Asp142Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117530959G>C | CA368974401 | CFTR | c.334G>C (p.Asp112His) c.*231G>C (n.*231G>C) c.*158G>C (n.*158G>C) c.91G>C (p.Asp31His) c.424G>C (p.Asp142His) |