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 |
|---|---|---|---|---|---|
| 3 | g.33051865_33051895delinsCAGGCAATGAACACTCACAAGTTCACACTCG | CA1356001006 | GLB1 | c.902_914+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG c.509_521+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG c.812_824+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG c.425_437+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG n.277_289+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG n.305_317+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG n.428_440+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG c.1046_1058+18delinsCGAGTGTGAACTTGTGAGTGTTCATTGCCTG | |
| 3 | g.33051866_33051895delinsGGCAAGTATATACTTGCCT | CA16617870 | GLB1 | c.902_914+17delinsAGGCAAGTATATACTTGCC c.509_521+17delinsAGGCAAGTATATACTTGCC c.812_824+17delinsAGGCAAGTATATACTTGCC c.425_437+17delinsAGGCAAGTATATACTTGCC n.277_289+17delinsAGGCAAGTATATACTTGCC n.305_317+17delinsAGGCAAGTATATACTTGCC n.428_440+17delinsAGGCAAGTATATACTTGCC c.1046_1058+17delinsAGGCAAGTATATACTTGCC | ClinVar dbSNP |
| 3 | g.33051889A= | CA1356001017 | GLB1 | c.908T= (p.Val303=) c.515T= (p.Val172=) c.818T= (p.Val273=) c.431T= (p.Val144=) c.*351T= (n.*351T=) n.283T= n.311T= n.434T= c.1052T= (p.Val351=) | |
| 3 | g.33051889A>C | CA352001171 | GLB1 | c.908T>G (p.Val303Gly) c.515T>G (p.Val172Gly) c.818T>G (p.Val273Gly) c.431T>G (p.Val144Gly) c.*351T>G (n.*351T>G) n.283T>G n.311T>G n.434T>G c.1052T>G (p.Val351Gly) | |
| 3 | g.33051889A>G | CA352001172 | GLB1 | c.908T>C (p.Val303Ala) c.515T>C (p.Val172Ala) c.818T>C (p.Val273Ala) c.431T>C (p.Val144Ala) c.*351T>C (n.*351T>C) n.283T>C n.311T>C n.434T>C c.1052T>C (p.Val351Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051889A>T | CA352001174 | GLB1 | c.908T>A (p.Val303Glu) c.515T>A (p.Val172Glu) c.818T>A (p.Val273Glu) c.431T>A (p.Val144Glu) c.*351T>A (n.*351T>A) n.283T>A n.311T>A n.434T>A c.1052T>A (p.Val351Glu) | |
| 3 | g.33051890C>A | CA352001176 | GLB1 | c.907G>T (p.Val303Leu) c.514G>T (p.Val172Leu) c.817G>T (p.Val273Leu) c.430G>T (p.Val144Leu) c.*350G>T (n.*350G>T) n.282G>T n.310G>T n.433G>T c.1051G>T (p.Val351Leu) | |
| 3 | g.33051890C>G | CA352001178 | GLB1 | c.907G>C (p.Val303Leu) c.514G>C (p.Val172Leu) c.817G>C (p.Val273Leu) c.430G>C (p.Val144Leu) c.*350G>C (n.*350G>C) n.282G>C n.310G>C n.433G>C c.1051G>C (p.Val351Leu) | |
| 3 | g.33051890C>T | CA352001180 | GLB1 | c.907G>A (p.Val303Met) c.514G>A (p.Val172Met) c.817G>A (p.Val273Met) c.430G>A (p.Val144Met) c.*350G>A (n.*350G>A) n.282G>A n.310G>A n.433G>A c.1051G>A (p.Val351Met) | |
| 3 | g.33051891A>C | CA352001183 | GLB1 | c.906T>G (p.Ser302Arg) c.513T>G (p.Ser171Arg) c.816T>G (p.Ser272Arg) c.429T>G (p.Ser143Arg) c.*349T>G (n.*349T>G) n.281T>G n.309T>G n.432T>G c.1050T>G (p.Ser350Arg) | |
| 3 | g.33051891A>G | CA432959423 | GLB1 | c.906T>C (p.Ser302=) c.513T>C (p.Ser171=) c.816T>C (p.Ser272=) c.429T>C (p.Ser143=) c.*349T>C (n.*349T>C) n.281T>C n.309T>C n.432T>C c.1050T>C (p.Ser350=) | |
| 3 | g.33051891A>T | CA352001185 | GLB1 | c.906T>A (p.Ser302Arg) c.513T>A (p.Ser171Arg) c.816T>A (p.Ser272Arg) c.429T>A (p.Ser143Arg) c.*349T>A (n.*349T>A) n.281T>A n.309T>A n.432T>A c.1050T>A (p.Ser350Arg) | |
| 3 | g.33051892C>A | CA352001188 | GLB1 | c.905G>T (p.Ser302Ile) c.512G>T (p.Ser171Ile) c.815G>T (p.Ser272Ile) c.428G>T (p.Ser143Ile) c.*348G>T (n.*348G>T) n.280G>T n.308G>T n.431G>T c.1049G>T (p.Ser350Ile) | ClinVar dbSNP |
| 3 | g.33051892C>G | CA352001190 | GLB1 | c.905G>C (p.Ser302Thr) c.512G>C (p.Ser171Thr) c.815G>C (p.Ser272Thr) c.428G>C (p.Ser143Thr) c.*348G>C (n.*348G>C) n.280G>C n.308G>C n.431G>C c.1049G>C (p.Ser350Thr) | ClinVar |
| 3 | g.33051892C>T | CA352001192 | GLB1 | c.905G>A (p.Ser302Asn) c.512G>A (p.Ser171Asn) c.815G>A (p.Ser272Asn) c.428G>A (p.Ser143Asn) c.*348G>A (n.*348G>A) n.280G>A n.308G>A n.431G>A c.1049G>A (p.Ser350Asn) | ClinVar gnomAD v4 |
| 3 | g.33051893T>A | CA352001195 | GLB1 | c.904A>T (p.Ser302Cys) c.511A>T (p.Ser171Cys) c.814A>T (p.Ser272Cys) c.427A>T (p.Ser143Cys) c.*347A>T (n.*347A>T) n.279A>T n.307A>T n.430A>T c.1048A>T (p.Ser350Cys) | |
| 3 | g.33051893T>C | CA352001197 | GLB1 | c.904A>G (p.Ser302Gly) c.511A>G (p.Ser171Gly) c.814A>G (p.Ser272Gly) c.427A>G (p.Ser143Gly) c.*347A>G (n.*347A>G) n.279A>G n.307A>G n.430A>G c.1048A>G (p.Ser350Gly) | |
| 3 | g.33051893T>G | CA352001199 | GLB1 | c.904A>C (p.Ser302Arg) c.511A>C (p.Ser171Arg) c.814A>C (p.Ser272Arg) c.427A>C (p.Ser143Arg) c.*347A>C (n.*347A>C) n.279A>C n.307A>C n.430A>C c.1048A>C (p.Ser350Arg) | |
| 3 | g.33051893T= | CA1356001018 | GLB1 | c.904A= (p.Ser302=) c.511A= (p.Ser171=) c.814A= (p.Ser272=) c.427A= (p.Ser143=) c.*347A= (n.*347A=) n.279A= n.307A= n.430A= c.1048A= (p.Ser350=) | |
| 3 | g.33051894C>A | CA432959424 | GLB1 | c.903G>T (p.Ala301=) c.510G>T (p.Ala170=) c.813G>T (p.Ala271=) c.426G>T (p.Ala142=) c.*346G>T (n.*346G>T) n.278G>T n.306G>T n.429G>T c.1047G>T (p.Ala349=) | ClinVar dbSNP |
| 3 | g.33051894C= | CA1356001019 | GLB1 | c.903G= (p.Ala301=) c.510G= (p.Ala170=) c.813G= (p.Ala271=) c.426G= (p.Ala142=) c.*346G= (n.*346G=) n.278G= n.306G= n.429G= c.1047G= (p.Ala349=) | |
| 3 | g.33051894C>G | CA432959426 | GLB1 | c.903G>C (p.Ala301=) c.510G>C (p.Ala170=) c.813G>C (p.Ala271=) c.426G>C (p.Ala142=) c.*346G>C (n.*346G>C) n.278G>C n.306G>C n.429G>C c.1047G>C (p.Ala349=) | COSMIC COSMIC |
| 3 | g.33051894C>T | CA432959425 | GLB1 | c.903G>A (p.Ala301=) c.510G>A (p.Ala170=) c.813G>A (p.Ala271=) c.426G>A (p.Ala142=) c.*346G>A (n.*346G>A) n.278G>A n.306G>A n.429G>A c.1047G>A (p.Ala349=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.33051895_33051898dup | CA1139657923 | GLB1 | c.900_903dup (p.Ser302GlyfsTer?) c.507_510dup (p.Ser171GlyfsTer?) c.810_813dup (p.Ser272GlyfsTer?) c.423_426dup (p.Ser143GlyfsTer?) c.*343_*346dup (n.*343_*346dup) n.275_278dup n.303_306dup n.426_429dup c.1044_1047dup (p.Ser350GlyfsTer?) | ClinVar dbSNP |
| 3 | g.33051895G>A | CA2299570 | GLB1 | c.902C>T (p.Ala301Val) c.509C>T (p.Ala170Val) c.812C>T (p.Ala271Val) c.425C>T (p.Ala142Val) c.*345C>T (n.*345C>T) n.277C>T n.305C>T n.428C>T c.1046C>T (p.Ala349Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051895G>C | CA352001205 | GLB1 | c.902C>G (p.Ala301Gly) c.509C>G (p.Ala170Gly) c.812C>G (p.Ala271Gly) c.425C>G (p.Ala142Gly) c.*345C>G (n.*345C>G) n.277C>G n.305C>G n.428C>G c.1046C>G (p.Ala349Gly) | |
| 3 | g.33051895G= | CA1356001020 | GLB1 | c.902C= (p.Ala301=) c.509C= (p.Ala170=) c.812C= (p.Ala271=) c.425C= (p.Ala142=) c.*345C= (n.*345C=) n.277C= n.305C= n.428C= c.1046C= (p.Ala349=) | |
| 3 | g.33051895G>T | CA352001202 | GLB1 | c.902C>A (p.Ala301Glu) c.509C>A (p.Ala170Glu) c.812C>A (p.Ala271Glu) c.425C>A (p.Ala142Glu) c.*345C>A (n.*345C>A) n.277C>A n.305C>A n.428C>A c.1046C>A (p.Ala349Glu) | |
| 3 | g.33051896C>A | CA352001209 | GLB1 | c.901G>T (p.Ala301Ser) c.508G>T (p.Ala170Ser) c.811G>T (p.Ala271Ser) c.424G>T (p.Ala142Ser) c.*344G>T (n.*344G>T) n.276G>T n.304G>T n.427G>T c.1045G>T (p.Ala349Ser) | |
| 3 | g.33051896C= | CA1356001021 | GLB1 | c.901G= (p.Ala301=) c.508G= (p.Ala170=) c.811G= (p.Ala271=) c.424G= (p.Ala142=) c.*344G= (n.*344G=) n.276G= n.304G= n.427G= c.1045G= (p.Ala349=) | |
| 3 | g.33051896C>G | CA352001211 | GLB1 | c.901G>C (p.Ala301Pro) c.508G>C (p.Ala170Pro) c.811G>C (p.Ala271Pro) c.424G>C (p.Ala142Pro) c.*344G>C (n.*344G>C) n.276G>C n.304G>C n.427G>C c.1045G>C (p.Ala349Pro) | |
| 3 | g.33051896C>T | CA203577 | GLB1 | c.901G>A (p.Ala301Thr) c.508G>A (p.Ala170Thr) c.811G>A (p.Ala271Thr) c.424G>A (p.Ala142Thr) c.*344G>A (n.*344G>A) n.276G>A n.304G>A n.427G>A c.1045G>A (p.Ala349Thr) | ClinVar dbSNP |
| 3 | g.33051897C>A | CA432959427 | GLB1 | c.900G>T (p.Gly300=) c.507G>T (p.Gly169=) c.810G>T (p.Gly270=) c.423G>T (p.Gly141=) c.*343G>T (n.*343G>T) n.275G>T n.303G>T n.426G>T c.1044G>T (p.Gly348=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051897C= | CA1356001022 | GLB1 | c.900G= (p.Gly300=) c.507G= (p.Gly169=) c.810G= (p.Gly270=) c.423G= (p.Gly141=) c.*343G= (n.*343G=) n.275G= n.303G= n.426G= c.1044G= (p.Gly348=) | |
| 3 | g.33051897C>G | CA432959428 | GLB1 | c.900G>C (p.Gly300=) c.507G>C (p.Gly169=) c.810G>C (p.Gly270=) c.423G>C (p.Gly141=) c.*343G>C (n.*343G>C) n.275G>C n.303G>C n.426G>C c.1044G>C (p.Gly348=) | |
| 3 | g.33051897C>T | CA432959429 | GLB1 | c.900G>A (p.Gly300=) c.507G>A (p.Gly169=) c.810G>A (p.Gly270=) c.423G>A (p.Gly141=) c.*343G>A (n.*343G>A) n.275G>A n.303G>A n.426G>A c.1044G>A (p.Gly348=) | |
| 3 | g.33051898C>A | CA352001215 | GLB1 | c.899G>T (p.Gly300Val) c.506G>T (p.Gly169Val) c.809G>T (p.Gly270Val) c.422G>T (p.Gly141Val) c.*342G>T (n.*342G>T) n.274G>T n.302G>T n.425G>T c.1043G>T (p.Gly348Val) | |
| 3 | g.33051898C>G | CA352001217 | GLB1 | c.899G>C (p.Gly300Ala) c.506G>C (p.Gly169Ala) c.809G>C (p.Gly270Ala) c.422G>C (p.Gly141Ala) c.*342G>C (n.*342G>C) n.274G>C n.302G>C n.425G>C c.1043G>C (p.Gly348Ala) | |
| 3 | g.33051898C>T | CA352001219 | GLB1 | c.899G>A (p.Gly300Glu) c.506G>A (p.Gly169Glu) c.809G>A (p.Gly270Glu) c.422G>A (p.Gly141Glu) c.*342G>A (n.*342G>A) n.274G>A n.302G>A n.425G>A c.1043G>A (p.Gly348Glu) | |
| 3 | g.33051899C>A | CA352001222 | GLB1 | c.898G>T (p.Gly300Trp) c.505G>T (p.Gly169Trp) c.808G>T (p.Gly270Trp) c.421G>T (p.Gly141Trp) c.*341G>T (n.*341G>T) n.273G>T n.301G>T n.424G>T c.1042G>T (p.Gly348Trp) | |
| 3 | g.33051899C>G | CA352001223 | GLB1 | c.898G>C (p.Gly300Arg) c.505G>C (p.Gly169Arg) c.808G>C (p.Gly270Arg) c.421G>C (p.Gly141Arg) c.*341G>C (n.*341G>C) n.273G>C n.301G>C n.424G>C c.1042G>C (p.Gly348Arg) | |
| 3 | g.33051899C>T | CA352001225 | GLB1 | c.898G>A (p.Gly300Arg) c.505G>A (p.Gly169Arg) c.808G>A (p.Gly270Arg) c.421G>A (p.Gly141Arg) c.*341G>A (n.*341G>A) n.273G>A n.301G>A n.424G>A c.1042G>A (p.Gly348Arg) | |
| 3 | g.33051900A>C | CA432959430 | GLB1 | c.897T>G (p.Arg299=) c.504T>G (p.Arg168=) c.807T>G (p.Arg269=) c.420T>G (p.Arg140=) c.*340T>G (n.*340T>G) n.272T>G n.300T>G n.423T>G c.1041T>G (p.Arg347=) | |
| 3 | g.33051900A>G | CA432959432 | GLB1 | c.897T>C (p.Arg299=) c.504T>C (p.Arg168=) c.807T>C (p.Arg269=) c.420T>C (p.Arg140=) c.*340T>C (n.*340T>C) n.272T>C n.300T>C n.423T>C c.1041T>C (p.Arg347=) | |
| 3 | g.33051900A>T | CA432959431 | GLB1 | c.897T>A (p.Arg299=) c.504T>A (p.Arg168=) c.807T>A (p.Arg269=) c.420T>A (p.Arg140=) c.*340T>A (n.*340T>A) n.272T>A n.300T>A n.423T>A c.1041T>A (p.Arg347=) | |
| 3 | g.33051901C>A | CA352001227 | GLB1 | c.896G>T (p.Arg299Leu) c.503G>T (p.Arg168Leu) c.806G>T (p.Arg269Leu) c.419G>T (p.Arg140Leu) c.*339G>T (n.*339G>T) n.271G>T n.299G>T n.422G>T c.1040G>T (p.Arg347Leu) | |
| 3 | g.33051901C= | CA1356001023 | GLB1 | c.896G= (p.Arg299=) c.503G= (p.Arg168=) c.806G= (p.Arg269=) c.419G= (p.Arg140=) c.*339G= (n.*339G=) n.271G= n.299G= n.422G= c.1040G= (p.Arg347=) | |
| 3 | g.33051901C>G | CA352001229 | GLB1 | c.896G>C (p.Arg299Pro) c.503G>C (p.Arg168Pro) c.806G>C (p.Arg269Pro) c.419G>C (p.Arg140Pro) c.*339G>C (n.*339G>C) n.271G>C n.299G>C n.422G>C c.1040G>C (p.Arg347Pro) | |
| 3 | g.33051901C>T | CA2299571 | GLB1 | c.896G>A (p.Arg299His) c.503G>A (p.Arg168His) c.806G>A (p.Arg269His) c.419G>A (p.Arg140His) c.*339G>A (n.*339G>A) n.271G>A n.299G>A n.422G>A c.1040G>A (p.Arg347His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051902G>A | CA352001237 | GLB1 | c.895C>T (p.Arg299Cys) c.502C>T (p.Arg168Cys) c.805C>T (p.Arg269Cys) c.418C>T (p.Arg140Cys) c.*338C>T (n.*338C>T) n.270C>T n.298C>T n.421C>T c.1039C>T (p.Arg347Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |