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 |
|---|---|---|---|---|---|
| 9 | g.69053233_69053254dup | CA2690188732 | FXN | c.132_153dup (p.Phe52ValfsTer2) c.357_378dup (p.Phe127ValfsTer2) c.165+17286_165+17307dup (n.165+17286_165+17307dup) c.355_376dup c.263+6751_263+6772dup (n.263+6751_263+6772dup) c.*82_*103dup (n.*82_*103dup) c.76+6751_76+6772dup | gnomAD v4 |
| 9 | g.69053247_69053249del | CA588207374 | FXN | c.146_148del (p.Asp49del) c.371_373del (p.Asp124del) c.165+17300_165+17302del (n.165+17300_165+17302del) c.369_371del c.263+6765_263+6767del (n.263+6765_263+6767del) c.*96_*98del (n.*96_*98del) c.76+6765_76+6767del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69053246_69053252delinsGATGTCT | CA1854042898 | FXN | c.145_151delinsGATGTCT (p.Asp49=) c.370_376delinsGATGTCT (p.Asp124=) c.165+17299_165+17305delinsGATGTCT (n.165+17299_165+17305delinsGATGTCT) c.368_374delinsGATGTCT c.263+6764_263+6770delinsGATGTCT (n.263+6764_263+6770delinsGATGTCT) c.*95_*101delinsGATGTCT (n.*95_*101delinsGATGTCT) c.76+6764_76+6770delinsGATGTCT | |
| 9 | g.69053247A>C | CA373530081 | FXN | c.146A>C (p.Asp49Ala) c.371A>C (p.Asp124Ala) c.165+17300A>C (n.165+17300A>C) c.369A>C c.263+6765A>C (n.263+6765A>C) c.*96A>C (n.*96A>C) c.76+6765A>C | |
| 9 | g.69053247A>G | CA373530082 | FXN | c.146A>G (p.Asp49Gly) c.371A>G (p.Asp124Gly) c.165+17300A>G (n.165+17300A>G) c.369A>G c.263+6765A>G (n.263+6765A>G) c.*96A>G (n.*96A>G) c.76+6765A>G | |
| 9 | g.69053247A>T | CA373530083 | FXN | c.146A>T (p.Asp49Val) c.371A>T (p.Asp124Val) c.165+17300A>T (n.165+17300A>T) c.369A>T c.263+6765A>T (n.263+6765A>T) c.*96A>T (n.*96A>T) c.76+6765A>T | |
| 9 | g.69053247_69053252delinsTACACCTTGAGGACA | CA10575562 | FXN | c.146_151delinsTACACCTTGAGGACA (p.Asp49_Ser51delinsValHisLeuGluAspThr) c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) c.165+17300_165+17305delinsTACACCTTGAGGACA (n.165+17300_165+17305delinsTACACCTTGAGGACA) c.369_374delinsTACACCTTGAGGACA c.263+6765_263+6770delinsTACACCTTGAGGACA (n.263+6765_263+6770delinsTACACCTTGAGGACA) c.*96_*101delinsTACACCTTGAGGACA (n.*96_*101delinsTACACCTTGAGGACA) c.76+6765_76+6770delinsTACACCTTGAGGACA | ClinVar dbSNP |
| 9 | g.69053248T>A | CA373530085 | FXN | c.147T>A (p.Asp49Glu) c.372T>A (p.Asp124Glu) c.165+17301T>A (n.165+17301T>A) c.370T>A c.263+6766T>A (n.263+6766T>A) c.*97T>A (n.*97T>A) c.76+6766T>A | |
| 9 | g.69053248T>C | CA465233539 | FXN | c.147T>C (p.Asp49=) c.372T>C (p.Asp124=) c.165+17301T>C (n.165+17301T>C) c.370T>C c.263+6766T>C (n.263+6766T>C) c.*97T>C (n.*97T>C) c.76+6766T>C | dbSNP |
| 9 | g.69053248T>G | CA373530084 | FXN | c.147T>G (p.Asp49Glu) c.372T>G (p.Asp124Glu) c.165+17301T>G (n.165+17301T>G) c.370T>G c.263+6766T>G (n.263+6766T>G) c.*97T>G (n.*97T>G) c.76+6766T>G | gnomAD v4 |
| 9 | g.69053248T= | CA1854042899 | FXN | c.147T= (p.Asp49=) c.372T= (p.Asp124=) c.165+17301T= (n.165+17301T=) c.370T= c.263+6766T= (n.263+6766T=) c.*97T= (n.*97T=) c.76+6766T= | |
| 9 | g.69053249G>A | CA373530086 | FXN | c.148G>A (p.Val50Ile) c.373G>A (p.Val125Ile) c.165+17302G>A (n.165+17302G>A) c.371G>A c.263+6767G>A (n.263+6767G>A) c.*98G>A (n.*98G>A) c.76+6767G>A | gnomAD v4 |
| 9 | g.69053249G>C | CA373530087 | FXN | c.148G>C (p.Val50Leu) c.373G>C (p.Val125Leu) c.165+17302G>C (n.165+17302G>C) c.371G>C c.263+6767G>C (n.263+6767G>C) c.*98G>C (n.*98G>C) c.76+6767G>C | |
| 9 | g.69053249G>T | CA373530088 | FXN | c.148G>T (p.Val50Phe) c.373G>T (p.Val125Phe) c.165+17302G>T (n.165+17302G>T) c.371G>T c.263+6767G>T (n.263+6767G>T) c.*98G>T (n.*98G>T) c.76+6767G>T | |
| 9 | g.69053250T>A | CA373530089 | FXN | c.149T>A (p.Val50Asp) c.374T>A (p.Val125Asp) c.165+17303T>A (n.165+17303T>A) c.372T>A c.263+6768T>A (n.263+6768T>A) c.*99T>A (n.*99T>A) c.76+6768T>A | gnomAD v4 |
| 9 | g.69053250T>C | CA373530090 | FXN | c.149T>C (p.Val50Ala) c.374T>C (p.Val125Ala) c.165+17303T>C (n.165+17303T>C) c.372T>C c.263+6768T>C (n.263+6768T>C) c.*99T>C (n.*99T>C) c.76+6768T>C | |
| 9 | g.69053250T>G | CA373530091 | FXN | c.149T>G (p.Val50Gly) c.374T>G (p.Val125Gly) c.165+17303T>G (n.165+17303T>G) c.372T>G c.263+6768T>G (n.263+6768T>G) c.*99T>G (n.*99T>G) c.76+6768T>G | |
| 9 | g.69053251C>A | CA465233541 | FXN | c.150C>A (p.Val50=) c.375C>A (p.Val125=) c.165+17304C>A (n.165+17304C>A) c.373C>A c.263+6769C>A (n.263+6769C>A) c.*100C>A (n.*100C>A) c.76+6769C>A | |
| 9 | g.69053251C>G | CA465233540 | FXN | c.150C>G (p.Val50=) c.375C>G (p.Val125=) c.165+17304C>G (n.165+17304C>G) c.373C>G c.263+6769C>G (n.263+6769C>G) c.*100C>G (n.*100C>G) c.76+6769C>G | |
| 9 | g.69053251C>T | CA465233542 | FXN | c.150C>T (p.Val50=) c.375C>T (p.Val125=) c.165+17304C>T (n.165+17304C>T) c.373C>T c.263+6769C>T (n.263+6769C>T) c.*100C>T (n.*100C>T) c.76+6769C>T | dbSNP gnomAD v4 |
| 9 | g.69053251_69053252insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2508264782 | FXN | c.150_151insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Ser51ProfsTer18) c.375_376insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Ser126ProfsTer18) c.375_376insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Ser126ProfsTer25) c.165+17304_165+17305insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.165+17304_165+17305insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.373_374insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.263+6769_263+6770insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.263+6769_263+6770insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*100_*101insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*100_*101insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.76+6769_76+6770insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
| 9 | g.69053252T>A | CA373530092 | FXN | c.151T>A (p.Ser51Thr) c.376T>A (p.Ser126Thr) c.165+17305T>A (n.165+17305T>A) c.374T>A c.263+6770T>A (n.263+6770T>A) c.*101T>A (n.*101T>A) c.76+6770T>A | gnomAD v4 |
| 9 | g.69053252T>C | CA373530093 | FXN | c.151T>C (p.Ser51Pro) c.376T>C (p.Ser126Pro) c.165+17305T>C (n.165+17305T>C) c.374T>C c.263+6770T>C (n.263+6770T>C) c.*101T>C (n.*101T>C) c.76+6770T>C | |
| 9 | g.69053252T>G | CA373530094 | FXN | c.151T>G (p.Ser51Ala) c.376T>G (p.Ser126Ala) c.165+17305T>G (n.165+17305T>G) c.374T>G c.263+6770T>G (n.263+6770T>G) c.*101T>G (n.*101T>G) c.76+6770T>G | |
| 9 | g.69053253C>A | CA373530095 | FXN | c.152C>A (p.Ser51Tyr) c.377C>A (p.Ser126Tyr) c.165+17306C>A (n.165+17306C>A) c.375C>A c.263+6771C>A (n.263+6771C>A) c.*102C>A (n.*102C>A) c.76+6771C>A | |
| 9 | g.69053253C>G | CA373530096 | FXN | c.152C>G (p.Ser51Cys) c.377C>G (p.Ser126Cys) c.165+17306C>G (n.165+17306C>G) c.375C>G c.263+6771C>G (n.263+6771C>G) c.*102C>G (n.*102C>G) c.76+6771C>G | |
| 9 | g.69053253C>T | CA373530097 | FXN | c.152C>T (p.Ser51Phe) c.377C>T (p.Ser126Phe) c.165+17306C>T (n.165+17306C>T) c.375C>T c.263+6771C>T (n.263+6771C>T) c.*102C>T (n.*102C>T) c.76+6771C>T | |
| 9 | g.69053254C>A | CA5072718 | FXN | c.153C>A (p.Ser51=) c.378C>A (p.Ser126=) c.165+17307C>A (n.165+17307C>A) c.376C>A c.263+6772C>A (n.263+6772C>A) c.*103C>A (n.*103C>A) c.76+6772C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69053254C= | CA1854042900 | FXN | c.153C= (p.Ser51=) c.378C= (p.Ser126=) c.165+17307C= (n.165+17307C=) c.376C= c.263+6772C= (n.263+6772C=) c.*103C= (n.*103C=) c.76+6772C= | |
| 9 | g.69053254C>G | CA465233543 | FXN | c.153C>G (p.Ser51=) c.378C>G (p.Ser126=) c.165+17307C>G (n.165+17307C>G) c.376C>G c.263+6772C>G (n.263+6772C>G) c.*103C>G (n.*103C>G) c.76+6772C>G | |
| 9 | g.69053254C>T | CA465233544 | FXN | c.153C>T (p.Ser51=) c.378C>T (p.Ser126=) c.165+17307C>T (n.165+17307C>T) c.376C>T c.263+6772C>T (n.263+6772C>T) c.*103C>T (n.*103C>T) c.76+6772C>T | dbSNP |
| 9 | g.69053257_69053269del | CA2695210687 | FXN | c.156_159+9del c.381_384+9del c.165+17310_165+17322del (n.165+17310_165+17322del) c.379_382+9del c.263+6775_263+6787del (n.263+6775_263+6787del) c.*106_*109+9del c.76+6775_76+6787del | |
| 9 | g.69053255T>A | CA373530100 | FXN | c.154T>A (p.Phe52Ile) c.379T>A (p.Phe127Ile) c.165+17308T>A (n.165+17308T>A) c.377T>A c.263+6773T>A (n.263+6773T>A) c.*104T>A (n.*104T>A) c.76+6773T>A | |
| 9 | g.69053255T>C | CA373530099 | FXN | c.154T>C (p.Phe52Leu) c.379T>C (p.Phe127Leu) c.165+17308T>C (n.165+17308T>C) c.377T>C c.263+6773T>C (n.263+6773T>C) c.*104T>C (n.*104T>C) c.76+6773T>C | |
| 9 | g.69053255T>G | CA373530098 | FXN | c.154T>G (p.Phe52Val) c.379T>G (p.Phe127Val) c.165+17308T>G (n.165+17308T>G) c.377T>G c.263+6773T>G (n.263+6773T>G) c.*104T>G (n.*104T>G) c.76+6773T>G | |
| 9 | g.69053256T>A | CA373530101 | FXN | c.155T>A (p.Phe52Tyr) c.380T>A (p.Phe127Tyr) c.165+17309T>A (n.165+17309T>A) c.378T>A c.263+6774T>A (n.263+6774T>A) c.*105T>A (n.*105T>A) c.76+6774T>A | |
| 9 | g.69053256T>C | CA373530103 | FXN | c.155T>C (p.Phe52Ser) c.380T>C (p.Phe127Ser) c.165+17309T>C (n.165+17309T>C) c.378T>C c.263+6774T>C (n.263+6774T>C) c.*105T>C (n.*105T>C) c.76+6774T>C | gnomAD v4 |
| 9 | g.69053256T>G | CA373530102 | FXN | c.155T>G (p.Phe52Cys) c.380T>G (p.Phe127Cys) c.165+17309T>G (n.165+17309T>G) c.378T>G c.263+6774T>G (n.263+6774T>G) c.*105T>G (n.*105T>G) c.76+6774T>G | |
| 9 | g.69053256_69053260delinsTTGGG | CA1854042901 | FXN | c.155_159delinsTTGGG (p.Phe52=) c.380_384delinsTTGGG (p.Phe127=) c.165+17309_165+17313delinsTTGGG (n.165+17309_165+17313delinsTTGGG) c.378_382delinsTTGGG c.263+6774_263+6778delinsTTGGG (n.263+6774_263+6778delinsTTGGG) c.*105_*109delinsTTGGG (n.*105_*109delinsTTGGG) c.76+6774_76+6778delinsTTGGG | |
| 9 | g.69053257T>A | CA373530104 | FXN | c.156T>A (p.Phe52Leu) c.381T>A (p.Phe127Leu) c.165+17310T>A (n.165+17310T>A) c.379T>A c.263+6775T>A (n.263+6775T>A) c.*106T>A (n.*106T>A) c.76+6775T>A | |
| 9 | g.69053257T>C | CA465233545 | FXN | c.156T>C (p.Phe52=) c.381T>C (p.Phe127=) c.165+17310T>C (n.165+17310T>C) c.379T>C c.263+6775T>C (n.263+6775T>C) c.*106T>C (n.*106T>C) c.76+6775T>C | |
| 9 | g.69053257T>G | CA373530105 | FXN | c.156T>G (p.Phe52Leu) c.381T>G (p.Phe127Leu) c.165+17310T>G (n.165+17310T>G) c.379T>G c.263+6775T>G (n.263+6775T>G) c.*106T>G (n.*106T>G) c.76+6775T>G | |
| 9 | g.69053257_69053260del | CA193385392 | FXN | c.156_159del (p.Phe52LeufsTer5) c.381_384del (p.Phe127LeufsTer5) c.381_384del (p.Phe127LeufsTer12) c.165+17310_165+17313del (n.165+17310_165+17313del) c.379_382del c.263+6775_263+6778del (n.263+6775_263+6778del) c.*106_*109del (n.*106_*109del) c.76+6775_76+6778del | dbSNP |
| 9 | g.69053258G>A | CA373530106 | FXN | c.157G>A (p.Gly53Arg) c.382G>A (p.Gly128Arg) c.165+17311G>A (n.165+17311G>A) c.380G>A c.263+6776G>A (n.263+6776G>A) c.*107G>A (n.*107G>A) c.76+6776G>A | gnomAD v4 |
| 9 | g.69053258G>C | CA373530108 | FXN | c.157G>C (p.Gly53Arg) c.382G>C (p.Gly128Arg) c.165+17311G>C (n.165+17311G>C) c.380G>C c.263+6776G>C (n.263+6776G>C) c.*107G>C (n.*107G>C) c.76+6776G>C | gnomAD v4 |
| 9 | g.69053258G>T | CA373530107 | FXN | c.157G>T (p.Gly53Trp) c.382G>T (p.Gly128Trp) c.165+17311G>T (n.165+17311G>T) c.380G>T c.263+6776G>T (n.263+6776G>T) c.*107G>T (n.*107G>T) c.76+6776G>T | |
| 9 | g.69053259G>A | CA373530109 | FXN | c.158G>A (p.Gly53Glu) c.383G>A (p.Gly128Glu) c.165+17312G>A (n.165+17312G>A) c.381G>A c.263+6777G>A (n.263+6777G>A) c.*108G>A (n.*108G>A) c.76+6777G>A | |
| 9 | g.69053259G>C | CA373530111 | FXN | c.158G>C (p.Gly53Ala) c.383G>C (p.Gly128Ala) c.165+17312G>C (n.165+17312G>C) c.381G>C c.263+6777G>C (n.263+6777G>C) c.*108G>C (n.*108G>C) c.76+6777G>C | |
| 9 | g.69053259G>T | CA373530110 | FXN | c.158G>T (p.Gly53Val) c.383G>T (p.Gly128Val) c.165+17312G>T (n.165+17312G>T) c.381G>T c.263+6777G>T (n.263+6777G>T) c.*108G>T (n.*108G>T) c.76+6777G>T | |
| 9 | g.69053260G>A | CA193385405 | FXN | c.159G>A (p.Gly53=) c.384G>A (p.Gly128=) c.165+17313G>A (n.165+17313G>A) c.382G>A c.263+6778G>A (n.263+6778G>A) c.*109G>A (n.*109G>A) c.76+6778G>A | dbSNP gnomAD v4 |