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 |
|---|---|---|---|---|---|
| 19 | g.43526510_43526524delinsCTGACCAGCATAGAG | CA2337539099 | ETHE1,ZNF575 | c.217_226+5delinsCTCTATGCTGGTCAG c.19_33delinsCTGACCAGCATAGAG (p.Leu7=) n.270_284delinsCTCTATGCTGGTCAG c.*221_*230+5delinsCTCTATGCTGGTCAG c.136_145+5delinsCTCTATGCTGGTCAG c.-4_6+5delinsCTCTATGCTGGTCAG c.81+573_81+587delinsCTCTATGCTGGTCAG (n.81+573_81+587delinsCTCTATGCTGGTCAG) | |
| 19 | g.43526511_43526524del | CA2337539100 | ETHE1,ZNF575 | c.217_226+4del c.20_33del (p.Leu7ProfsTer8) n.270_283del c.*221_*230+4del c.136_145+4del c.-4_6+4del c.81+573_81+586del (n.81+573_81+586del) | dbSNP |
| 19 | g.43526521A>C | CA406180622 | ETHE1,ZNF575 | c.220T>G (p.Tyr74Asp) c.30A>C (p.Ile10=) n.273T>G c.*224T>G (n.*224T>G) c.139T>G (p.Tyr47Asp) c.-1T>G (n.-1T>G) c.81+576T>G (n.81+576T>G) | |
| 19 | g.43526521A>G | CA406180626 | ETHE1,ZNF575 | c.220T>C (p.Tyr74His) c.30A>G (p.Ile10Met) n.273T>C c.*224T>C (n.*224T>C) c.139T>C (p.Tyr47His) c.-1T>C (n.-1T>C) c.81+576T>C (n.81+576T>C) | |
| 19 | g.43526521A>T | CA406180629 | ETHE1,ZNF575 | c.220T>A (p.Tyr74Asn) c.30A>T (p.Ile10=) n.273T>A c.*224T>A (n.*224T>A) c.139T>A (p.Tyr47Asn) c.-1T>A (n.-1T>A) c.81+576T>A (n.81+576T>A) | |
| 19 | g.43526522G>A | CA406180635 | ETHE1,ZNF575 | c.219C>T (p.Leu73=) c.31G>A (p.Glu11Lys) n.272C>T c.*223C>T (n.*223C>T) c.138C>T (p.Leu46=) c.-2C>T (n.-2C>T) c.81+575C>T (n.81+575C>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.43526522G>C | CA406180649 | ETHE1,ZNF575 | c.219C>G (p.Leu73=) c.31G>C (p.Glu11Gln) n.272C>G c.*223C>G (n.*223C>G) c.138C>G (p.Leu46=) c.-2C>G (n.-2C>G) c.81+575C>G (n.81+575C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.43526522G>T | CA406180652 | ETHE1,ZNF575 | c.219C>A (p.Leu73=) c.31G>T (p.Glu11Ter) n.272C>A c.*223C>A (n.*223C>A) c.138C>A (p.Leu46=) c.-2C>A (n.-2C>A) c.81+575C>A (n.81+575C>A) | |
| 19 | g.43526523A>C | CA406180657 | ETHE1,ZNF575 | c.218T>G (p.Leu73Arg) c.32A>C (p.Glu11Ala) n.271T>G c.*222T>G (n.*222T>G) c.137T>G (p.Leu46Arg) c.-3T>G (n.-3T>G) c.81+574T>G (n.81+574T>G) | |
| 19 | g.43526523A>G | CA406180665 | ETHE1,ZNF575 | c.218T>C (p.Leu73Pro) c.32A>G (p.Glu11Gly) n.271T>C c.*222T>C (n.*222T>C) c.137T>C (p.Leu46Pro) c.-3T>C (n.-3T>C) c.81+574T>C (n.81+574T>C) | |
| 19 | g.43526523A>T | CA406180667 | ETHE1,ZNF575 | c.218T>A (p.Leu73His) c.32A>T (p.Glu11Val) n.271T>A c.*222T>A (n.*222T>A) c.137T>A (p.Leu46His) c.-3T>A (n.-3T>A) c.81+574T>A (n.81+574T>A) | |
| 19 | g.43526524G>A | CA406180683 | ETHE1,ZNF575 | c.217C>T (p.Leu73Phe) c.33G>A (p.Glu11=) n.270C>T c.*221C>T (n.*221C>T) c.136C>T (p.Leu46Phe) c.-4C>T (n.-4C>T) c.81+573C>T (n.81+573C>T) | |
| 19 | g.43526524G>C | CA406180687 | ETHE1,ZNF575 | c.217C>G (p.Leu73Val) c.33G>C (p.Glu11Asp) n.270C>G c.*221C>G (n.*221C>G) c.136C>G (p.Leu46Val) c.-4C>G (n.-4C>G) c.81+573C>G (n.81+573C>G) | |
| 19 | g.43526524G>T | CA406180695 | ETHE1,ZNF575 | c.217C>A (p.Leu73Ile) c.33G>T (p.Glu11Asp) n.270C>A c.*221C>A (n.*221C>A) c.136C>A (p.Leu46Ile) c.-4C>A (n.-4C>A) c.81+573C>A (n.81+573C>A) | |
| 19 | g.43526530_43526535dup | CA2585521448 | ETHE1,ZNF575 | c.212_217dup (p.Leu72_Leu73insArgLeu) c.39_44dup (p.Pro15_Gln16insGlnPro) n.265_270dup c.*216_*221dup (n.*216_*221dup) c.131_136dup (p.Leu45_Leu46insArgLeu) c.-9_-4dup (n.-9_-4dup) c.81+568_81+573dup (n.81+568_81+573dup) | gnomAD v4 |
| 19 | g.43526525C>A | CA406180710 | ETHE1,ZNF575 | c.216G>T (p.Leu72=) c.34C>A (p.Gln12Lys) n.269G>T c.*220G>T (n.*220G>T) c.135G>T (p.Leu45=) c.-5G>T (n.-5G>T) c.81+572G>T (n.81+572G>T) | |
| 19 | g.43526525C= | CA2337539108 | ETHE1,ZNF575 | c.216G= (p.Leu72=) c.34C= (p.Gln12=) n.269G= c.*220G= (n.*220G=) c.135G= (p.Leu45=) c.-5G= (n.-5G=) c.81+572G= (n.81+572G=) | |
| 19 | g.43526525C>G | CA406180713 | ETHE1,ZNF575 | c.216G>C (p.Leu72=) c.34C>G (p.Gln12Glu) n.269G>C c.*220G>C (n.*220G>C) c.135G>C (p.Leu45=) c.-5G>C (n.-5G>C) c.81+572G>C (n.81+572G>C) | |
| 19 | g.43526525C>T | CA406180708 | ETHE1,ZNF575 | c.216G>A (p.Leu72=) c.34C>T (p.Gln12Ter) n.269G>A c.*220G>A (n.*220G>A) c.135G>A (p.Leu45=) c.-5G>A (n.-5G>A) c.81+572G>A (n.81+572G>A) | ClinVar dbSNP |
| 19 | g.43526526A= | CA2337539109 | ETHE1,ZNF575 | c.215T= (p.Leu72=) c.35A= (p.Gln12=) n.268T= c.*219T= (n.*219T=) c.134T= (p.Leu45=) c.-6T= (n.-6T=) c.81+571T= (n.81+571T=) | |
| 19 | g.43526526A>C | CA406180722 | ETHE1,ZNF575 | c.215T>G (p.Leu72Arg) c.35A>C (p.Gln12Pro) n.268T>G c.*219T>G (n.*219T>G) c.134T>G (p.Leu45Arg) c.-6T>G (n.-6T>G) c.81+571T>G (n.81+571T>G) | |
| 19 | g.43526526A>G | CA406180727 | ETHE1,ZNF575 | c.215T>C (p.Leu72Pro) c.35A>G (p.Gln12Arg) n.268T>C c.*219T>C (n.*219T>C) c.134T>C (p.Leu45Pro) c.-6T>C (n.-6T>C) c.81+571T>C (n.81+571T>C) | ClinVar dbSNP |
| 19 | g.43526526A>T | CA406180731 | ETHE1,ZNF575 | c.215T>A (p.Leu72Gln) c.35A>T (p.Gln12Leu) n.268T>A c.*219T>A (n.*219T>A) c.134T>A (p.Leu45Gln) c.-6T>A (n.-6T>A) c.81+571T>A (n.81+571T>A) | |
| 19 | g.43526527G>A | CA507737992 | ETHE1,ZNF575 | c.214C>T (p.Leu72=) c.36G>A (p.Gln12=) n.267C>T c.*218C>T (n.*218C>T) c.133C>T (p.Leu45=) c.-7C>T (n.-7C>T) c.81+570C>T (n.81+570C>T) | ClinVar dbSNP |
| 19 | g.43526527G>C | CA406180760 | ETHE1,ZNF575 | c.214C>G (p.Leu72Val) c.36G>C (p.Gln12His) n.267C>G c.*218C>G (n.*218C>G) c.133C>G (p.Leu45Val) c.-7C>G (n.-7C>G) c.81+570C>G (n.81+570C>G) | |
| 19 | g.43526527G>T | CA406180762 | ETHE1,ZNF575 | c.214C>A (p.Leu72Met) c.36G>T (p.Gln12His) n.267C>A c.*218C>A (n.*218C>A) c.133C>A (p.Leu45Met) c.-7C>A (n.-7C>A) c.81+570C>A (n.81+570C>A) | |
| 19 | g.43526528C>A | CA406180778 | ETHE1,ZNF575 | c.213G>T (p.Arg71=) c.37C>A (p.Pro13Thr) n.266G>T c.*217G>T (n.*217G>T) c.132G>T (p.Arg44=) c.-8G>T (n.-8G>T) c.81+569G>T (n.81+569G>T) | |
| 19 | g.43526528C>G | CA406180772 | ETHE1,ZNF575 | c.213G>C (p.Arg71=) c.37C>G (p.Pro13Ala) n.266G>C c.*217G>C (n.*217G>C) c.132G>C (p.Arg44=) c.-8G>C (n.-8G>C) c.81+569G>C (n.81+569G>C) | |
| 19 | g.43526528C>T | CA406180774 | ETHE1,ZNF575 | c.213G>A (p.Arg71=) c.37C>T (p.Pro13Ser) n.266G>A c.*217G>A (n.*217G>A) c.132G>A (p.Arg44=) c.-8G>A (n.-8G>A) c.81+569G>A (n.81+569G>A) | |
| 19 | g.43526529C>A | CA406180788 | ETHE1,ZNF575 | c.212G>T (p.Arg71Leu) c.38C>A (p.Pro13Gln) n.265G>T c.*216G>T (n.*216G>T) c.131G>T (p.Arg44Leu) c.-9G>T (n.-9G>T) c.81+568G>T (n.81+568G>T) | |
| 19 | g.43526529C>G | CA406180796 | ETHE1,ZNF575 | c.212G>C (p.Arg71Pro) c.38C>G (p.Pro13Arg) n.265G>C c.*216G>C (n.*216G>C) c.131G>C (p.Arg44Pro) c.-9G>C (n.-9G>C) c.81+568G>C (n.81+568G>C) | |
| 19 | g.43526529C>T | CA406180798 | ETHE1,ZNF575 | c.212G>A (p.Arg71Gln) c.38C>T (p.Pro13Leu) n.265G>A c.*216G>A (n.*216G>A) c.131G>A (p.Arg44Gln) c.-9G>A (n.-9G>A) c.81+568G>A (n.81+568G>A) | |
| 19 | g.43526530G>A | CA406180799 | ETHE1,ZNF575 | c.211C>T (p.Arg71Trp) c.39G>A (p.Pro13=) n.264C>T c.*215C>T (n.*215C>T) c.130C>T (p.Arg44Trp) c.-10C>T (n.-10C>T) c.81+567C>T (n.81+567C>T) | dbSNP gnomAD v2 |
| 19 | g.43526530G>C | CA406180802 | ETHE1,ZNF575 | c.211C>G (p.Arg71Gly) c.39G>C (p.Pro13=) n.264C>G c.*215C>G (n.*215C>G) c.130C>G (p.Arg44Gly) c.-10C>G (n.-10C>G) c.81+567C>G (n.81+567C>G) | |
| 19 | g.43526530G= | CA2337539110 | ETHE1,ZNF575 | c.211C= (p.Arg71=) c.39G= (p.Pro13=) n.264C= c.*215C= (n.*215C=) c.130C= (p.Arg44=) c.-10C= (n.-10C=) c.81+567C= (n.81+567C=) | |
| 19 | g.43526530G>T | CA507738001 | ETHE1,ZNF575 | c.211C>A (p.Arg71=) c.39G>T (p.Pro13=) n.264C>A c.*215C>A (n.*215C>A) c.130C>A (p.Arg44=) c.-10C>A (n.-10C>A) c.81+567C>A (n.81+567C>A) | |
| 19 | g.43526531C>A | CA406180822 | ETHE1,ZNF575 | c.210G>T (p.Leu70=) c.40C>A (p.Gln14Lys) n.263G>T c.*214G>T (n.*214G>T) c.129G>T (p.Leu43=) c.-11G>T (n.-11G>T) c.81+566G>T (n.81+566G>T) | |
| 19 | g.43526531C= | CA2337539111 | ETHE1,ZNF575 | c.210G= (p.Leu70=) c.40C= (p.Gln14=) n.263G= c.*214G= (n.*214G=) c.129G= (p.Leu43=) c.-11G= (n.-11G=) c.81+566G= (n.81+566G=) | |
| 19 | g.43526531C>G | CA406180809 | ETHE1,ZNF575 | c.210G>C (p.Leu70=) c.40C>G (p.Gln14Glu) n.263G>C c.*214G>C (n.*214G>C) c.129G>C (p.Leu43=) c.-11G>C (n.-11G>C) c.81+566G>C (n.81+566G>C) | ClinVar dbSNP |
| 19 | g.43526531C>T | CA406180817 | ETHE1,ZNF575 | c.210G>A (p.Leu70=) c.40C>T (p.Gln14Ter) n.263G>A c.*214G>A (n.*214G>A) c.129G>A (p.Leu43=) c.-11G>A (n.-11G>A) c.81+566G>A (n.81+566G>A) | |
| 19 | g.43526535_43526540dup | CA2573054786 | ETHE1,ZNF575 | c.205_210dup (p.Leu70_Arg71insGlyLeu) c.44_49dup (p.Gln16_Leu17insProGln) n.258_263dup c.*209_*214dup (n.*209_*214dup) c.124_129dup (p.Leu43_Arg44insGlyLeu) c.-16_-11dup (n.-16_-11dup) c.81+561_81+566dup (n.81+561_81+566dup) | ClinVar dbSNP |
| 19 | g.43526532A>C | CA406180826 | ETHE1,ZNF575 | c.209T>G (p.Leu70Arg) c.41A>C (p.Gln14Pro) n.262T>G c.*213T>G (n.*213T>G) c.128T>G (p.Leu43Arg) c.-12T>G (n.-12T>G) c.81+565T>G (n.81+565T>G) | |
| 19 | g.43526532A>G | CA406180835 | ETHE1,ZNF575 | c.209T>C (p.Leu70Pro) c.41A>G (p.Gln14Arg) n.262T>C c.*213T>C (n.*213T>C) c.128T>C (p.Leu43Pro) c.-12T>C (n.-12T>C) c.81+565T>C (n.81+565T>C) | |
| 19 | g.43526532A>T | CA406180831 | ETHE1,ZNF575 | c.209T>A (p.Leu70Gln) c.41A>T (p.Gln14Leu) n.262T>A c.*213T>A (n.*213T>A) c.128T>A (p.Leu43Gln) c.-12T>A (n.-12T>A) c.81+565T>A (n.81+565T>A) | |
| 19 | g.43526533G>A | CA9487928 | ETHE1,ZNF575 | c.208C>T (p.Leu70=) c.42G>A (p.Gln14=) n.261C>T c.*212C>T (n.*212C>T) c.127C>T (p.Leu43=) c.-13C>T (n.-13C>T) c.81+564C>T (n.81+564C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43526533G>C | CA406180847 | ETHE1,ZNF575 | c.208C>G (p.Leu70Val) c.42G>C (p.Gln14His) n.261C>G c.*212C>G (n.*212C>G) c.127C>G (p.Leu43Val) c.-13C>G (n.-13C>G) c.81+564C>G (n.81+564C>G) | |
| 19 | g.43526533G= | CA2337539112 | ETHE1,ZNF575 | c.208C= (p.Leu70=) c.42G= (p.Gln14=) n.261C= c.*212C= (n.*212C=) c.127C= (p.Leu43=) c.-13C= (n.-13C=) c.81+564C= (n.81+564C=) | |
| 19 | g.43526533G>T | CA406180845 | ETHE1,ZNF575 | c.208C>A (p.Leu70Met) c.42G>T (p.Gln14His) n.261C>A c.*212C>A (n.*212C>A) c.127C>A (p.Leu43Met) c.-13C>A (n.-13C>A) c.81+564C>A (n.81+564C>A) | |
| 19 | g.43526533_43526534delinsAT | CA2739276875 | ETHE1,ZNF575 | c.207_208delinsAT (p.Gly69=) c.42_43delinsAT (p.Pro15Ser) n.260_261delinsAT c.*211_*212delinsAT (n.*211_*212delinsAT) c.126_127delinsAT (p.Gly42=) c.-14_-13delinsAT (n.-14_-13delinsAT) c.81+563_81+564delinsAT (n.81+563_81+564delinsAT) | ClinVar |
| 19 | g.43526533_43526536delinsGCCC | CA2337539113 | ETHE1,ZNF575 | c.205_208delinsGGGC (p.Gly69=) c.42_45delinsGCCC (p.Gln14=) n.258_261delinsGGGC c.*209_*212delinsGGGC (n.*209_*212delinsGGGC) c.124_127delinsGGGC (p.Gly42=) c.-16_-13delinsGGGC (n.-16_-13delinsGGGC) c.81+561_81+564delinsGGGC (n.81+561_81+564delinsGGGC) |