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.117531017_117531022delinsTTATTG | CA1737359516 | CFTR | c.392_397delinsTTATTG (p.Phe131=) c.*289_*294delinsTTATTG (n.*289_*294delinsTTATTG) c.*216_*221delinsTTATTG (n.*216_*221delinsTTATTG) c.149_154delinsTTATTG (p.Phe50=) c.482_487delinsTTATTG (p.Phe161=) | |
| 7 | g.117531019_117531023del | CA1139660221 | CFTR | c.394_398del (p.Ile132GlufsTer25) c.*291_*295del (n.*291_*295del) c.*218_*222del (n.*218_*222del) c.151_155del (p.Ile51GlufsTer25) c.484_488del (p.Ile162GlufsTer25) | ClinVar dbSNP |
| 7 | g.117531019_117531020delinsAT | CA1737359519 | CFTR | c.394_395delinsAT (p.Ile132=) c.*291_*292delinsAT (n.*291_*292delinsAT) c.*218_*219delinsAT (n.*218_*219delinsAT) c.151_152delinsAT (p.Ile51=) c.484_485delinsAT (p.Ile162=) | |
| 7 | g.117531020T>A | CA368974624 | CFTR | c.395T>A (p.Ile132Asn) c.*292T>A (n.*292T>A) c.*219T>A (n.*219T>A) c.152T>A (p.Ile51Asn) c.485T>A (p.Ile162Asn) | |
| 7 | g.117531020T>C | CA368974620 | CFTR | c.395T>C (p.Ile132Thr) c.*292T>C (n.*292T>C) c.*219T>C (n.*219T>C) c.152T>C (p.Ile51Thr) c.485T>C (p.Ile162Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531020T>G | CA368974622 | CFTR | c.395T>G (p.Ile132Ser) c.*292T>G (n.*292T>G) c.*219T>G (n.*219T>G) c.152T>G (p.Ile51Ser) c.485T>G (p.Ile162Ser) | |
| 7 | g.117531020T= | CA1737359521 | CFTR | c.395T= (p.Ile132=) c.*292T= (n.*292T=) c.*219T= (n.*219T=) c.152T= (p.Ile51=) c.485T= (p.Ile162=) | |
| 7 | g.117531021del | CA1737359520 | CFTR | c.396del (p.Ile132MetfsTer2) c.*293del (n.*293del) c.*220del (n.*220del) c.153del (p.Ile51MetfsTer2) c.486del (p.Ile162MetfsTer2) | ClinVar dbSNP |
| 7 | g.117531021T>A | CA457448674 | CFTR | c.396T>A (p.Ile132=) c.*293T>A (n.*293T>A) c.*220T>A (n.*220T>A) c.153T>A (p.Ile51=) c.486T>A (p.Ile162=) | |
| 7 | g.117531021T>C | CA457448675 | CFTR | c.396T>C (p.Ile132=) c.*293T>C (n.*293T>C) c.*220T>C (n.*220T>C) c.153T>C (p.Ile51=) c.486T>C (p.Ile162=) | ClinVar |
| 7 | g.117531021T>G | CA368974626 | CFTR | c.396T>G (p.Ile132Met) c.*293T>G (n.*293T>G) c.*220T>G (n.*220T>G) c.153T>G (p.Ile51Met) c.486T>G (p.Ile162Met) | gnomAD v4 |
| 7 | g.117531022G>A | CA368974630 | CFTR | c.397G>A (p.Val133Met) c.*294G>A (n.*294G>A) c.*221G>A (n.*221G>A) c.154G>A (p.Val52Met) c.487G>A (p.Val163Met) | |
| 7 | g.117531022G>C | CA368974633 | CFTR | c.397G>C (p.Val133Leu) c.*294G>C (n.*294G>C) c.*221G>C (n.*221G>C) c.154G>C (p.Val52Leu) c.487G>C (p.Val163Leu) | gnomAD v4 |
| 7 | g.117531022G>T | CA368974635 | CFTR | c.397G>T (p.Val133Leu) c.*294G>T (n.*294G>T) c.*221G>T (n.*221G>T) c.154G>T (p.Val52Leu) c.487G>T (p.Val163Leu) | gnomAD v4 |
| 7 | g.117531023T>A | CA368974637 | CFTR | c.398T>A (p.Val133Glu) c.*295T>A (n.*295T>A) c.*222T>A (n.*222T>A) c.155T>A (p.Val52Glu) c.488T>A (p.Val163Glu) | |
| 7 | g.117531023T>C | CA368974639 | CFTR | c.398T>C (p.Val133Ala) c.*295T>C (n.*295T>C) c.*222T>C (n.*222T>C) c.155T>C (p.Val52Ala) c.488T>C (p.Val163Ala) | |
| 7 | g.117531023T>G | CA368974643 | CFTR | c.398T>G (p.Val133Gly) c.*295T>G (n.*295T>G) c.*222T>G (n.*222T>G) c.155T>G (p.Val52Gly) c.488T>G (p.Val163Gly) | |
| 7 | g.117531024G>A | CA457448676 | CFTR | c.399G>A (p.Val133=) c.*296G>A (n.*296G>A) c.*223G>A (n.*223G>A) c.156G>A (p.Val52=) c.489G>A (p.Val163=) | gnomAD v4 |
| 7 | g.117531024G>C | CA457448677 | CFTR | c.399G>C (p.Val133=) c.*296G>C (n.*296G>C) c.*223G>C (n.*223G>C) c.156G>C (p.Val52=) c.489G>C (p.Val163=) | |
| 7 | g.117531024G>T | CA457448678 | CFTR | c.399G>T (p.Val133=) c.*296G>T (n.*296G>T) c.*223G>T (n.*223G>T) c.156G>T (p.Val52=) c.489G>T (p.Val163=) | |
| 7 | g.117531025A>C | CA457448679 | CFTR | c.400A>C (p.Arg134=) c.*297A>C (n.*297A>C) c.*224A>C (n.*224A>C) c.157A>C (p.Arg53=) c.490A>C (p.Arg164=) | ClinVar gnomAD v4 |
| 7 | g.117531025A>G | CA368974645 | CFTR | c.400A>G (p.Arg134Gly) c.*297A>G (n.*297A>G) c.*224A>G (n.*224A>G) c.157A>G (p.Arg53Gly) c.490A>G (p.Arg164Gly) | |
| 7 | g.117531025A>T | CA368974647 | CFTR | c.400A>T (p.Arg134Trp) c.*297A>T (n.*297A>T) c.*224A>T (n.*224A>T) c.157A>T (p.Arg53Trp) c.490A>T (p.Arg164Trp) | |
| 7 | g.117531026G>A | CA368974649 | CFTR | c.401G>A (p.Arg134Lys) c.*298G>A (n.*298G>A) c.*225G>A (n.*225G>A) c.158G>A (p.Arg53Lys) c.491G>A (p.Arg164Lys) | ClinVar dbSNP |
| 7 | g.117531026G>C | CA368974651 | CFTR | c.401G>C (p.Arg134Thr) c.*298G>C (n.*298G>C) c.*225G>C (n.*225G>C) c.158G>C (p.Arg53Thr) c.491G>C (p.Arg164Thr) | |
| 7 | g.117531026G= | CA1737359522 | CFTR | c.401G= (p.Arg134=) c.*298G= (n.*298G=) c.*225G= (n.*225G=) c.158G= (p.Arg53=) c.491G= (p.Arg164=) | |
| 7 | g.117531026G>T | CA368974652 | CFTR | c.401G>T (p.Arg134Met) c.*298G>T (n.*298G>T) c.*225G>T (n.*225G>T) c.158G>T (p.Arg53Met) c.491G>T (p.Arg164Met) | |
| 7 | g.117531027dup | CA913111884 | CFTR | c.402dup (p.Thr135AspfsTer24) c.*299dup (n.*299dup) c.*226dup (n.*226dup) c.159dup (p.Thr54AspfsTer24) c.492dup (p.Thr165AspfsTer24) | |
| 7 | g.117531027G>A | CA457448680 | CFTR | c.402G>A (p.Arg134=) c.*299G>A (n.*299G>A) c.*226G>A (n.*226G>A) c.159G>A (p.Arg53=) c.492G>A (p.Arg164=) | ClinVar gnomAD v4 |
| 7 | g.117531027G>C | CA368974657 | CFTR | c.402G>C (p.Arg134Ser) c.*299G>C (n.*299G>C) c.*226G>C (n.*226G>C) c.159G>C (p.Arg53Ser) c.492G>C (p.Arg164Ser) | |
| 7 | g.117531027G= | CA1737359523 | CFTR | c.402G= (p.Arg134=) c.*299G= (n.*299G=) c.*226G= (n.*226G=) c.159G= (p.Arg53=) c.492G= (p.Arg164=) | |
| 7 | g.117531027G>T | CA368974655 | CFTR | c.402G>T (p.Arg134Ser) c.*299G>T (n.*299G>T) c.*226G>T (n.*226G>T) c.159G>T (p.Arg53Ser) c.492G>T (p.Arg164Ser) | |
| 7 | g.117531028A= | CA1737359524 | CFTR | c.403A= (p.Thr135=) c.*300A= (n.*300A=) c.*227A= (n.*227A=) c.160A= (p.Thr54=) c.493A= (p.Thr165=) | |
| 7 | g.117531028A>C | CA368974660 | CFTR | c.403A>C (p.Thr135Pro) c.*300A>C (n.*300A>C) c.*227A>C (n.*227A>C) c.160A>C (p.Thr54Pro) c.493A>C (p.Thr165Pro) | |
| 7 | g.117531028A>G | CA368974662 | CFTR | c.403A>G (p.Thr135Ala) c.*300A>G (n.*300A>G) c.*227A>G (n.*227A>G) c.160A>G (p.Thr54Ala) c.493A>G (p.Thr165Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531028A>T | CA4450717 | CFTR | c.403A>T (p.Thr135Ser) c.*300A>T (n.*300A>T) c.*227A>T (n.*227A>T) c.160A>T (p.Thr54Ser) c.493A>T (p.Thr165Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531030_117531031dup | CA658821271 | CFTR | c.405_406dup (p.Leu136HisfsTer18) c.*302_*303dup (n.*302_*303dup) c.*229_*230dup (n.*229_*230dup) c.162_163dup (p.Leu55HisfsTer18) c.495_496dup (p.Leu166HisfsTer18) | ClinVar dbSNP |
| 7 | g.117531029C>A | CA368974667 | CFTR | c.404C>A (p.Thr135Lys) c.*301C>A (n.*301C>A) c.*228C>A (n.*228C>A) c.161C>A (p.Thr54Lys) c.494C>A (p.Thr165Lys) | |
| 7 | g.117531029C>G | CA368974672 | CFTR | c.404C>G (p.Thr135Arg) c.*301C>G (n.*301C>G) c.*228C>G (n.*228C>G) c.161C>G (p.Thr54Arg) c.494C>G (p.Thr165Arg) | |
| 7 | g.117531029C>T | CA368974674 | CFTR | c.404C>T (p.Thr135Ile) c.*301C>T (n.*301C>T) c.*228C>T (n.*228C>T) c.161C>T (p.Thr54Ile) c.494C>T (p.Thr165Ile) | gnomAD v4 |
| 7 | g.117531030A= | CA1737359525 | CFTR | c.405A= (p.Thr135=) c.*302A= (n.*302A=) c.*229A= (n.*229A=) c.162A= (p.Thr54=) c.495A= (p.Thr165=) | |
| 7 | g.117531030A>C | CA4450718 | CFTR | c.405A>C (p.Thr135=) c.*302A>C (n.*302A>C) c.*229A>C (n.*229A>C) c.162A>C (p.Thr54=) c.495A>C (p.Thr165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531030A>G | CA457448682 | CFTR | c.405A>G (p.Thr135=) c.*302A>G (n.*302A>G) c.*229A>G (n.*229A>G) c.162A>G (p.Thr54=) c.495A>G (p.Thr165=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531030A>T | CA457448681 | CFTR | c.405A>T (p.Thr135=) c.*302A>T (n.*302A>T) c.*229A>T (n.*229A>T) c.162A>T (p.Thr54=) c.495A>T (p.Thr165=) | |
| 7 | g.117531031C>A | CA368974681 | CFTR | c.406C>A (p.Leu136Met) c.*303C>A (n.*303C>A) c.*230C>A (n.*230C>A) c.163C>A (p.Leu55Met) c.496C>A (p.Leu166Met) | gnomAD v4 |
| 7 | g.117531031C= | CA1737359526 | CFTR | c.406C= (p.Leu136=) c.*303C= (n.*303C=) c.*230C= (n.*230C=) c.163C= (p.Leu55=) c.496C= (p.Leu166=) |