WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117531034_117531041delinsCTCCTACA | CA1737359531 | CFTR | c.409_416delinsCTCCTACA (p.Leu137=) c.*306_*313delinsCTCCTACA (n.*306_*313delinsCTCCTACA) c.*233_*240delinsCTCCTACA (n.*233_*240delinsCTCCTACA) c.166_173delinsCTCCTACA (p.Leu56=) c.499_506delinsCTCCTACA (p.Leu167=) | |
| 7 | g.117531035_117531041del | CA915945472 | CFTR | c.410_416del (p.Leu137ProfsTer14) c.*307_*313del (n.*307_*313del) c.*234_*240del (n.*234_*240del) c.167_173del (p.Leu56ProfsTer14) c.500_506del (p.Leu167ProfsTer14) | ClinVar dbSNP |
| 7 | g.117531038_117531040dup | CA327427 | CFTR | c.413_415dup (p.Leu138_His139insLeu) c.*310_*312dup (n.*310_*312dup) c.*237_*239dup (n.*237_*239dup) c.170_172dup (p.Leu57_His58insLeu) c.503_505dup (p.Leu168_His169insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531038T>A | CA368974724 | CFTR | c.413T>A (p.Leu138Gln) c.*310T>A (n.*310T>A) c.*237T>A (n.*237T>A) c.170T>A (p.Leu57Gln) c.503T>A (p.Leu168Gln) | |
| 7 | g.117531038T>C | CA164943773 | CFTR | c.413T>C (p.Leu138Pro) c.*310T>C (n.*310T>C) c.*237T>C (n.*237T>C) c.170T>C (p.Leu57Pro) c.503T>C (p.Leu168Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531038T>G | CA368974721 | CFTR | c.413T>G (p.Leu138Arg) c.*310T>G (n.*310T>G) c.*237T>G (n.*237T>G) c.170T>G (p.Leu57Arg) c.503T>G (p.Leu168Arg) | gnomAD v4 |
| 7 | g.117531038T= | CA1737359539 | CFTR | c.413T= (p.Leu138=) c.*310T= (n.*310T=) c.*237T= (n.*237T=) c.170T= (p.Leu57=) c.503T= (p.Leu168=) | |
| 7 | g.117531039A>C | CA457448693 | CFTR | c.414A>C (p.Leu138=) c.*311A>C (n.*311A>C) c.*238A>C (n.*238A>C) c.171A>C (p.Leu57=) c.504A>C (p.Leu168=) | |
| 7 | g.117531039A>G | CA457448691 | CFTR | c.414A>G (p.Leu138=) c.*311A>G (n.*311A>G) c.*238A>G (n.*238A>G) c.171A>G (p.Leu57=) c.504A>G (p.Leu168=) | |
| 7 | g.117531039A>T | CA457448692 | CFTR | c.414A>T (p.Leu138=) c.*311A>T (n.*311A>T) c.*238A>T (n.*238A>T) c.171A>T (p.Leu57=) c.504A>T (p.Leu168=) | |
| 7 | g.117531040C>A | CA368974727 | CFTR | c.415C>A (p.His139Asn) c.*312C>A (n.*312C>A) c.*239C>A (n.*239C>A) c.172C>A (p.His58Asn) c.505C>A (p.His169Asn) | |
| 7 | g.117531040C= | CA1737359545 | CFTR | c.415C= (p.His139=) c.*312C= (n.*312C=) c.*239C= (n.*239C=) c.172C= (p.His58=) c.505C= (p.His169=) | |
| 7 | g.117531040C>G | CA368974729 | CFTR | c.415C>G (p.His139Asp) c.*312C>G (n.*312C>G) c.*239C>G (n.*239C>G) c.172C>G (p.His58Asp) c.505C>G (p.His169Asp) | gnomAD v4 |
| 7 | g.117531040C>T | CA368974732 | CFTR | c.415C>T (p.His139Tyr) c.*312C>T (n.*312C>T) c.*239C>T (n.*239C>T) c.172C>T (p.His58Tyr) c.505C>T (p.His169Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531040dup | CA2684617327 | CFTR | c.415dup (p.His139ProfsTer20) c.*312dup (n.*312dup) c.*239dup (n.*239dup) c.172dup (p.His58ProfsTer20) c.505dup (p.His169ProfsTer20) | gnomAD v4 |
| 7 | g.117531040_117531041insGA | CA327429 | CFTR | c.415_416insGA (p.His139ArgfsTer15) c.*312_*313insGA (n.*312_*313insGA) c.*239_*240insGA (n.*239_*240insGA) c.172_173insGA (p.His58ArgfsTer15) c.505_506insGA (p.His169ArgfsTer15) | dbSNP |
| 7 | g.117531040_117531041insTA | CA2695208297 | CFTR | c.415_416insTA (p.His139LeufsTer15) c.*312_*313insTA (n.*312_*313insTA) c.*239_*240insTA (n.*239_*240insTA) c.172_173insTA (p.His58LeufsTer15) c.505_506insTA (p.His169LeufsTer15) | |
| 7 | g.117531041A= | CA1737359552 | CFTR | c.416A= (p.His139=) c.*313A= (n.*313A=) c.*240A= (n.*240A=) c.173A= (p.His58=) c.506A= (p.His169=) | |
| 7 | g.117531041A>C | CA368974738 | CFTR | c.416A>C (p.His139Pro) c.*313A>C (n.*313A>C) c.*240A>C (n.*240A>C) c.173A>C (p.His58Pro) c.506A>C (p.His169Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531041A>G | CA327434 | CFTR | c.416A>G (p.His139Arg) c.*313A>G (n.*313A>G) c.*240A>G (n.*240A>G) c.173A>G (p.His58Arg) c.506A>G (p.His169Arg) | ClinVar dbSNP |
| 7 | g.117531041A>T | CA327435 | CFTR | c.416A>T (p.His139Leu) c.*313A>T (n.*313A>T) c.*240A>T (n.*240A>T) c.173A>T (p.His58Leu) c.506A>T (p.His169Leu) | ClinVar dbSNP |
| 7 | g.117531042C>A | CA368974741 | CFTR | c.417C>A (p.His139Gln) c.*314C>A (n.*314C>A) c.*241C>A (n.*241C>A) c.174C>A (p.His58Gln) c.507C>A (p.His169Gln) | |
| 7 | g.117531042C= | CA1737359565 | CFTR | c.417C= (p.His139=) c.*314C= (n.*314C=) c.*241C= (n.*241C=) c.174C= (p.His58=) c.507C= (p.His169=) | |
| 7 | g.117531042C>G | CA368974745 | CFTR | c.417C>G (p.His139Gln) c.*314C>G (n.*314C>G) c.*241C>G (n.*241C>G) c.174C>G (p.His58Gln) c.507C>G (p.His169Gln) | |
| 7 | g.117531042C>T | CA4450719 | CFTR | c.417C>T (p.His139=) c.*314C>T (n.*314C>T) c.*241C>T (n.*241C>T) c.174C>T (p.His58=) c.507C>T (p.His169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531043C>A | CA368974750 | CFTR | c.418C>A (p.Pro140Thr) c.*315C>A (n.*315C>A) c.*242C>A (n.*242C>A) c.175C>A (p.Pro59Thr) c.508C>A (p.Pro170Thr) | |
| 7 | g.117531043C= | CA1737359568 | CFTR | c.418C= (p.Pro140=) c.*315C= (n.*315C=) c.*242C= (n.*242C=) c.175C= (p.Pro59=) c.508C= (p.Pro170=) | |
| 7 | g.117531043C>G | CA368974752 | CFTR | c.418C>G (p.Pro140Ala) c.*315C>G (n.*315C>G) c.*242C>G (n.*242C>G) c.175C>G (p.Pro59Ala) c.508C>G (p.Pro170Ala) | ClinVar |
| 7 | g.117531043C>T | CA327438 | CFTR | c.418C>T (p.Pro140Ser) c.*315C>T (n.*315C>T) c.*242C>T (n.*242C>T) c.175C>T (p.Pro59Ser) c.508C>T (p.Pro170Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531044C>A | CA368974753 | CFTR | c.419C>A (p.Pro140Gln) c.*316C>A (n.*316C>A) c.*243C>A (n.*243C>A) c.176C>A (p.Pro59Gln) c.509C>A (p.Pro170Gln) | dbSNP |
| 7 | g.117531044C= | CA1737359574 | CFTR | c.419C= (p.Pro140=) c.*316C= (n.*316C=) c.*243C= (n.*243C=) c.176C= (p.Pro59=) c.509C= (p.Pro170=) | |
| 7 | g.117531044C>G | CA4450720 | CFTR | c.419C>G (p.Pro140Arg) c.*316C>G (n.*316C>G) c.*243C>G (n.*243C>G) c.176C>G (p.Pro59Arg) c.509C>G (p.Pro170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531044C>T | CA327444 | CFTR | c.419C>T (p.Pro140Leu) c.*316C>T (n.*316C>T) c.*243C>T (n.*243C>T) c.176C>T (p.Pro59Leu) c.509C>T (p.Pro170Leu) | ClinVar dbSNP COSMIC |
| 7 | g.117531045A>C | CA457448694 | CFTR | c.420A>C (p.Pro140=) c.*317A>C (n.*317A>C) c.*244A>C (n.*244A>C) c.177A>C (p.Pro59=) c.510A>C (p.Pro170=) | |
| 7 | g.117531045A>G | CA457448695 | CFTR | c.420A>G (p.Pro140=) c.*317A>G (n.*317A>G) c.*244A>G (n.*244A>G) c.177A>G (p.Pro59=) c.510A>G (p.Pro170=) | |
| 7 | g.117531045A>T | CA457448696 | CFTR | c.420A>T (p.Pro140=) c.*317A>T (n.*317A>T) c.*244A>T (n.*244A>T) c.177A>T (p.Pro59=) c.510A>T (p.Pro170=) | |
| 7 | g.117531045dup | CA327455 | CFTR | c.420dup (p.Ala141SerfsTer18) c.*317dup (n.*317dup) c.*244dup (n.*244dup) c.177dup (p.Ala60SerfsTer18) c.510dup (p.Ala171SerfsTer18) | dbSNP |
| 7 | g.117531046G>A | CA368974754 | CFTR | c.421G>A (p.Ala141Thr) c.*318G>A (n.*318G>A) c.*245G>A (n.*245G>A) c.178G>A (p.Ala60Thr) c.511G>A (p.Ala171Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531046G>C | CA368974755 | CFTR | c.421G>C (p.Ala141Pro) c.*318G>C (n.*318G>C) c.*245G>C (n.*245G>C) c.178G>C (p.Ala60Pro) c.511G>C (p.Ala171Pro) | |
| 7 | g.117531046G= | CA1737359580 | CFTR | c.421G= (p.Ala141=) c.*318G= (n.*318G=) c.*245G= (n.*245G=) c.178G= (p.Ala60=) c.511G= (p.Ala171=) | |
| 7 | g.117531046G>T | CA368974756 | CFTR | c.421G>T (p.Ala141Ser) c.*318G>T (n.*318G>T) c.*245G>T (n.*245G>T) c.178G>T (p.Ala60Ser) c.511G>T (p.Ala171Ser) | |
| 7 | g.117531047C>A | CA327458 | CFTR | c.422C>A (p.Ala141Asp) c.*319C>A (n.*319C>A) c.*246C>A (n.*246C>A) c.179C>A (p.Ala60Asp) c.512C>A (p.Ala171Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531047C= | CA1737359584 | CFTR | c.422C= (p.Ala141=) c.*319C= (n.*319C=) c.*246C= (n.*246C=) c.179C= (p.Ala60=) c.512C= (p.Ala171=) | |
| 7 | g.117531047C>G | CA368974757 | CFTR | c.422C>G (p.Ala141Gly) c.*319C>G (n.*319C>G) c.*246C>G (n.*246C>G) c.179C>G (p.Ala60Gly) c.512C>G (p.Ala171Gly) | gnomAD v4 |
| 7 | g.117531047C>T | CA368974758 | CFTR | c.422C>T (p.Ala141Val) c.*319C>T (n.*319C>T) c.*246C>T (n.*246C>T) c.179C>T (p.Ala60Val) c.512C>T (p.Ala171Val) | |
| 7 | g.117531048C>A | CA457448697 | CFTR | c.423C>A (p.Ala141=) c.*320C>A (n.*320C>A) c.*247C>A (n.*247C>A) c.180C>A (p.Ala60=) c.513C>A (p.Ala171=) |