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.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117536574A= | CA1737327034 | CFTR | c.770A= (p.Glu257=) c.*667A= (n.*667A=) c.*594A= (n.*594A=) c.527A= (p.Glu176=) c.680A= (p.Glu227=) c.860A= (p.Glu287=) | |
| 7 | g.117536574A>C | CA4450830 | CFTR | c.770A>C (p.Glu257Ala) c.*667A>C (n.*667A>C) c.*594A>C (n.*594A>C) c.527A>C (p.Glu176Ala) c.680A>C (p.Glu227Ala) c.860A>C (p.Glu287Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536574A>G | CA368977372 | CFTR | c.770A>G (p.Glu257Gly) c.*667A>G (n.*667A>G) c.*594A>G (n.*594A>G) c.527A>G (p.Glu176Gly) c.680A>G (p.Glu227Gly) c.860A>G (p.Glu287Gly) | ClinVar gnomAD v4 |
| 7 | g.117536574A>T | CA368977373 | CFTR | c.770A>T (p.Glu257Val) c.*667A>T (n.*667A>T) c.*594A>T (n.*594A>T) c.527A>T (p.Glu176Val) c.680A>T (p.Glu227Val) c.860A>T (p.Glu287Val) | |
| 7 | g.117536576del | CA2580076376 | CFTR | c.772del (p.Arg258AspfsTer3) c.*669del (n.*669del) c.*596del (n.*596del) c.529del (p.Arg177AspfsTer3) c.682del (p.Arg228AspfsTer3) c.862del (p.Arg288AspfsTer3) | ClinVar gnomAD v4 |
| 7 | g.117536575A>C | CA368977374 | CFTR | c.771A>C (p.Glu257Asp) c.*668A>C (n.*668A>C) c.*595A>C (n.*595A>C) c.528A>C (p.Glu176Asp) c.681A>C (p.Glu227Asp) c.861A>C (p.Glu287Asp) | |
| 7 | g.117536575A>G | CA457227336 | CFTR | c.771A>G (p.Glu257=) c.*668A>G (n.*668A>G) c.*595A>G (n.*595A>G) c.528A>G (p.Glu176=) c.681A>G (p.Glu227=) c.861A>G (p.Glu287=) | |
| 7 | g.117536575A>T | CA368977375 | CFTR | c.771A>T (p.Glu257Asp) c.*668A>T (n.*668A>T) c.*595A>T (n.*595A>T) c.528A>T (p.Glu176Asp) c.681A>T (p.Glu227Asp) c.861A>T (p.Glu287Asp) | |
| 7 | g.117536576A= | CA1737327040 | CFTR | c.772A= (p.Arg258=) c.*669A= (n.*669A=) c.*596A= (n.*596A=) c.529A= (p.Arg177=) c.682A= (p.Arg228=) c.862A= (p.Arg288=) | |
| 7 | g.117536576A>C | CA457227337 | CFTR | c.772A>C (p.Arg258=) c.*669A>C (n.*669A>C) c.*596A>C (n.*596A>C) c.529A>C (p.Arg177=) c.682A>C (p.Arg228=) c.862A>C (p.Arg288=) | |
| 7 | g.117536576A>G | CA327648 | CFTR | c.772A>G (p.Arg258Gly) c.*669A>G (n.*669A>G) c.*596A>G (n.*596A>G) c.529A>G (p.Arg177Gly) c.682A>G (p.Arg228Gly) c.862A>G (p.Arg288Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536576A>T | CA368977376 | CFTR | c.772A>T (p.Arg258Ter) c.*669A>T (n.*669A>T) c.*596A>T (n.*596A>T) c.529A>T (p.Arg177Ter) c.682A>T (p.Arg228Ter) c.862A>T (p.Arg288Ter) | |
| 7 | g.117536576_117536577delinsAG | CA1737327044 | CFTR | c.772_773delinsAG (p.Arg258=) c.*669_*670delinsAG (n.*669_*670delinsAG) c.*596_*597delinsAG (n.*596_*597delinsAG) c.529_530delinsAG (p.Arg177=) c.682_683delinsAG (p.Arg228=) c.862_863delinsAG (p.Arg288=) | |
| 7 | g.117536577del | CA327649 | CFTR | c.773del (p.Arg258AsnfsTer3) c.*670del (n.*670del) c.*597del (n.*597del) c.530del (p.Arg177AsnfsTer3) c.683del (p.Arg228AsnfsTer3) c.863del (p.Arg288AsnfsTer3) | ClinVar dbSNP |
| 7 | g.117536577G>A | CA368977377 | CFTR | c.773G>A (p.Arg258Lys) c.*670G>A (n.*670G>A) c.*597G>A (n.*597G>A) c.530G>A (p.Arg177Lys) c.683G>A (p.Arg228Lys) c.863G>A (p.Arg288Lys) | ClinVar dbSNP |
| 7 | g.117536577G>C | CA368977378 | CFTR | c.773G>C (p.Arg258Thr) c.*670G>C (n.*670G>C) c.*597G>C (n.*597G>C) c.530G>C (p.Arg177Thr) c.683G>C (p.Arg228Thr) c.863G>C (p.Arg288Thr) | |
| 7 | g.117536577G= | CA1737327054 | CFTR | c.773G= (p.Arg258=) c.*670G= (n.*670G=) c.*597G= (n.*597G=) c.530G= (p.Arg177=) c.683G= (p.Arg228=) c.863G= (p.Arg288=) | |
| 7 | g.117536577G>T | CA4450831 | CFTR | c.773G>T (p.Arg258Ile) c.*670G>T (n.*670G>T) c.*597G>T (n.*597G>T) c.530G>T (p.Arg177Ile) c.683G>T (p.Arg228Ile) c.863G>T (p.Arg288Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536579_117536585del | CA2684617823 | CFTR | c.775_781del (p.Val260ProfsTer4) c.*672_*678del (n.*672_*678del) c.*599_*605del (n.*599_*605del) c.532_538del (p.Val179ProfsTer4) c.685_691del (p.Val230ProfsTer4) c.865_871del (p.Val290ProfsTer4) | gnomAD v4 |
| 7 | g.117536578A= | CA1737327062 | CFTR | c.774A= (p.Arg258=) c.*671A= (n.*671A=) c.*598A= (n.*598A=) c.531A= (p.Arg177=) c.684A= (p.Arg228=) c.864A= (p.Arg288=) | |
| 7 | g.117536578A>C | CA368977380 | CFTR | c.774A>C (p.Arg258Ser) c.*671A>C (n.*671A>C) c.*598A>C (n.*598A>C) c.531A>C (p.Arg177Ser) c.684A>C (p.Arg228Ser) c.864A>C (p.Arg288Ser) | |
| 7 | g.117536578A>G | CA457227341 | CFTR | c.774A>G (p.Arg258=) c.*671A>G (n.*671A>G) c.*598A>G (n.*598A>G) c.531A>G (p.Arg177=) c.684A>G (p.Arg228=) c.864A>G (p.Arg288=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536578A>T | CA368977379 | CFTR | c.774A>T (p.Arg258Ser) c.*671A>T (n.*671A>T) c.*598A>T (n.*598A>T) c.531A>T (p.Arg177Ser) c.684A>T (p.Arg228Ser) c.864A>T (p.Arg288Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536578_117536579delinsAC | CA1737327060 | CFTR | c.774_775delinsAC (p.Arg258=) c.*671_*672delinsAC (n.*671_*672delinsAC) c.*598_*599delinsAC (n.*598_*599delinsAC) c.531_532delinsAC (p.Arg177=) c.684_685delinsAC (p.Arg228=) c.864_865delinsAC (p.Arg288=) | |
| 7 | g.117536579C>A | CA368977381 | CFTR | c.775C>A (p.Leu259Ile) c.*672C>A (n.*672C>A) c.*599C>A (n.*599C>A) c.532C>A (p.Leu178Ile) c.685C>A (p.Leu229Ile) c.865C>A (p.Leu289Ile) | |
| 7 | g.117536579C= | CA1737327077 | CFTR | c.775C= (p.Leu259=) c.*672C= (n.*672C=) c.*599C= (n.*599C=) c.532C= (p.Leu178=) c.685C= (p.Leu229=) c.865C= (p.Leu289=) | |
| 7 | g.117536579C>G | CA4450833 | CFTR | c.775C>G (p.Leu259Val) c.*672C>G (n.*672C>G) c.*599C>G (n.*599C>G) c.532C>G (p.Leu178Val) c.685C>G (p.Leu229Val) c.865C>G (p.Leu289Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536579C>T | CA4450832 | CFTR | c.775C>T (p.Leu259Phe) c.*672C>T (n.*672C>T) c.*599C>T (n.*599C>T) c.532C>T (p.Leu178Phe) c.685C>T (p.Leu229Phe) c.865C>T (p.Leu289Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536579delinsTCTTCCTCAGATTCATTGTGATTACCTCA | CA327650 | CFTR | c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259SerfsTer7) c.*672delinsTCTTCCTCAGATTCATTGTGATTACCTCA (n.*672delinsTCTTCCTCAGATTCATTGTGATTACCTCA) c.*599delinsTCTTCCTCAGATTCATTGTGATTACCTCA (n.*599delinsTCTTCCTCAGATTCATTGTGATTACCTCA) c.532delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu178SerfsTer7) c.685delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu229SerfsTer7) c.865delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu289SerfsTer7) | dbSNP |
| 7 | g.117536579_117536580delinsCT | CA1737327071 | CFTR | c.775_776delinsCT (p.Leu259=) c.*672_*673delinsCT (n.*672_*673delinsCT) c.*599_*600delinsCT (n.*599_*600delinsCT) c.532_533delinsCT (p.Leu178=) c.685_686delinsCT (p.Leu229=) c.865_866delinsCT (p.Leu289=) | |
| 7 | g.117536580T>A | CA368977384 | CFTR | c.776T>A (p.Leu259His) c.*673T>A (n.*673T>A) c.*600T>A (n.*600T>A) c.533T>A (p.Leu178His) c.686T>A (p.Leu229His) c.866T>A (p.Leu289His) | |
| 7 | g.117536580T>C | CA368977383 | CFTR | c.776T>C (p.Leu259Pro) c.*673T>C (n.*673T>C) c.*600T>C (n.*600T>C) c.533T>C (p.Leu178Pro) c.686T>C (p.Leu229Pro) c.866T>C (p.Leu289Pro) | |
| 7 | g.117536580T>G | CA368977382 | CFTR | c.776T>G (p.Leu259Arg) c.*673T>G (n.*673T>G) c.*600T>G (n.*600T>G) c.533T>G (p.Leu178Arg) c.686T>G (p.Leu229Arg) c.866T>G (p.Leu289Arg) | |
| 7 | g.117536581del | CA1737327081 | CFTR | c.777del (p.Val260Ter) c.*674del (n.*674del) c.*601del (n.*601del) c.534del (p.Val179Ter) c.687del (p.Val230Ter) c.867del (p.Val290Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536581T>A | CA457227343 | CFTR | c.777T>A (p.Leu259=) c.*674T>A (n.*674T>A) c.*601T>A (n.*601T>A) c.534T>A (p.Leu178=) c.687T>A (p.Leu229=) c.867T>A (p.Leu289=) | |
| 7 | g.117536581T>C | CA457227344 | CFTR | c.777T>C (p.Leu259=) c.*674T>C (n.*674T>C) c.*601T>C (n.*601T>C) c.534T>C (p.Leu178=) c.687T>C (p.Leu229=) c.867T>C (p.Leu289=) | |
| 7 | g.117536581T>G | CA457227345 | CFTR | c.777T>G (p.Leu259=) c.*674T>G (n.*674T>G) c.*601T>G (n.*601T>G) c.534T>G (p.Leu178=) c.687T>G (p.Leu229=) c.867T>G (p.Leu289=) | |
| 7 | g.117536582G>A | CA368977385 | CFTR | c.778G>A (p.Val260Met) c.*675G>A (n.*675G>A) c.*602G>A (n.*602G>A) c.535G>A (p.Val179Met) c.688G>A (p.Val230Met) c.868G>A (p.Val290Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536582G>C | CA368977386 | CFTR | c.778G>C (p.Val260Leu) c.*675G>C (n.*675G>C) c.*602G>C (n.*602G>C) c.535G>C (p.Val179Leu) c.688G>C (p.Val230Leu) c.868G>C (p.Val290Leu) | |
| 7 | g.117536582G= | CA1737327084 | CFTR | c.778G= (p.Val260=) c.*675G= (n.*675G=) c.*602G= (n.*602G=) c.535G= (p.Val179=) c.688G= (p.Val230=) c.868G= (p.Val290=) | |
| 7 | g.117536582G>T | CA368977387 | CFTR | c.778G>T (p.Val260Leu) c.*675G>T (n.*675G>T) c.*602G>T (n.*602G>T) c.535G>T (p.Val179Leu) c.688G>T (p.Val230Leu) c.868G>T (p.Val290Leu) | |
| 7 | g.117536583T>A | CA368977388 | CFTR | c.779T>A (p.Val260Glu) c.*676T>A (n.*676T>A) c.*603T>A (n.*603T>A) c.536T>A (p.Val179Glu) c.689T>A (p.Val230Glu) c.869T>A (p.Val290Glu) | |
| 7 | g.117536583T>C | CA368977389 | CFTR | c.779T>C (p.Val260Ala) c.*676T>C (n.*676T>C) c.*603T>C (n.*603T>C) c.536T>C (p.Val179Ala) c.689T>C (p.Val230Ala) c.869T>C (p.Val290Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536583T>G | CA4450834 | CFTR | c.779T>G (p.Val260Gly) c.*676T>G (n.*676T>G) c.*603T>G (n.*603T>G) c.536T>G (p.Val179Gly) c.689T>G (p.Val230Gly) c.869T>G (p.Val290Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536583T= | CA1737327092 | CFTR | c.779T= (p.Val260=) c.*676T= (n.*676T=) c.*603T= (n.*603T=) c.536T= (p.Val179=) c.689T= (p.Val230=) c.869T= (p.Val290=) | |
| 7 | g.117536584G>A | CA164946502 | CFTR | c.780G>A (p.Val260=) c.*677G>A (n.*677G>A) c.*604G>A (n.*604G>A) c.537G>A (p.Val179=) c.690G>A (p.Val230=) c.870G>A (p.Val290=) | ClinVar dbSNP |
| 7 | g.117536584G>C | CA457227348 | CFTR | c.780G>C (p.Val260=) c.*677G>C (n.*677G>C) c.*604G>C (n.*604G>C) c.537G>C (p.Val179=) c.690G>C (p.Val230=) c.870G>C (p.Val290=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536584G= | CA1737327094 | CFTR | c.780G= (p.Val260=) c.*677G= (n.*677G=) c.*604G= (n.*604G=) c.537G= (p.Val179=) c.690G= (p.Val230=) c.870G= (p.Val290=) | |
| 7 | g.117536584G>T | CA457227346 | CFTR | c.780G>T (p.Val260=) c.*677G>T (n.*677G>T) c.*604G>T (n.*604G>T) c.537G>T (p.Val179=) c.690G>T (p.Val230=) c.870G>T (p.Val290=) | dbSNP gnomAD v4 |