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 |
|---|---|---|---|---|---|
| 11 | g.62617171_62617174delinsAGCC | CA1977821578 | B3GAT3 | c.431_434delinsGGCT (p.Arg144=) c.*553_*556delinsGGCT (n.*553_*556delinsGGCT) n.281_284delinsGGCT c.500_503delinsGGCT (p.Arg167=) c.410_413delinsGGCT (p.Arg137=) n.649_652delinsGGCT n.460_463delinsGGCT | |
| 11 | g.62617174_62617176del | CA6050120 | B3GAT3 | c.431_433del (p.Arg144del) c.*553_*555del (n.*553_*555del) n.281_283del c.500_502del (p.Arg167del) c.410_412del (p.Arg137del) n.649_651del n.460_462del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62617174C>A | CA380977013 | B3GAT3 | c.431G>T (p.Arg144Leu) c.*553G>T (n.*553G>T) n.281G>T c.500G>T (p.Arg167Leu) c.410G>T (p.Arg137Leu) n.649G>T n.460G>T | gnomAD v4 |
| 11 | g.62617174C= | CA1977821605 | B3GAT3 | c.431G= (p.Arg144=) c.*553G= (n.*553G=) n.281G= c.500G= (p.Arg167=) c.410G= (p.Arg137=) n.649G= n.460G= | |
| 11 | g.62617174C>G | CA380977014 | B3GAT3 | c.431G>C (p.Arg144Pro) c.*553G>C (n.*553G>C) n.281G>C c.500G>C (p.Arg167Pro) c.410G>C (p.Arg137Pro) n.649G>C n.460G>C | |
| 11 | g.62617174C>T | CA6050121 | B3GAT3 | c.431G>A (p.Arg144Gln) c.*553G>A (n.*553G>A) n.281G>A c.500G>A (p.Arg167Gln) c.410G>A (p.Arg137Gln) n.649G>A n.460G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62617175G>A | CA6050122 | B3GAT3 | c.430C>T (p.Arg144Trp) c.*552C>T (n.*552C>T) n.280C>T c.499C>T (p.Arg167Trp) c.409C>T (p.Arg137Trp) n.648C>T n.459C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62617175G>C | CA380977015 | B3GAT3 | c.430C>G (p.Arg144Gly) c.*552C>G (n.*552C>G) n.280C>G c.499C>G (p.Arg167Gly) c.409C>G (p.Arg137Gly) n.648C>G n.459C>G | |
| 11 | g.62617175G= | CA1977821625 | B3GAT3 | c.430C= (p.Arg144=) c.*552C= (n.*552C=) n.280C= c.499C= (p.Arg167=) c.409C= (p.Arg137=) n.648C= n.459C= | |
| 11 | g.62617175G>T | CA475129795 | B3GAT3 | c.430C>A (p.Arg144=) c.*552C>A (n.*552C>A) n.280C>A c.499C>A (p.Arg167=) c.409C>A (p.Arg137=) n.648C>A n.459C>A | |
| 11 | g.62617176C>A | CA380977016 | B3GAT3 | c.429G>T (p.Gln143His) c.*551G>T (n.*551G>T) n.279G>T c.498G>T (p.Gln166His) c.408G>T (p.Gln136His) n.647G>T n.458G>T | |
| 11 | g.62617176C>G | CA380977017 | B3GAT3 | c.429G>C (p.Gln143His) c.*551G>C (n.*551G>C) n.279G>C c.498G>C (p.Gln166His) c.408G>C (p.Gln136His) n.647G>C n.458G>C | |
| 11 | g.62617176C>T | CA475129797 | B3GAT3 | c.429G>A (p.Gln143=) c.*551G>A (n.*551G>A) n.279G>A c.498G>A (p.Gln166=) c.408G>A (p.Gln136=) n.647G>A n.458G>A | gnomAD v4 |
| 11 | g.62617177T>A | CA380977020 | B3GAT3 | c.428A>T (p.Gln143Leu) c.*550A>T (n.*550A>T) n.278A>T c.497A>T (p.Gln166Leu) c.407A>T (p.Gln136Leu) n.646A>T n.457A>T | COSMIC |
| 11 | g.62617177T>C | CA380977019 | B3GAT3 | c.428A>G (p.Gln143Arg) c.*550A>G (n.*550A>G) n.278A>G c.497A>G (p.Gln166Arg) c.407A>G (p.Gln136Arg) n.646A>G n.457A>G | gnomAD v4 |
| 11 | g.62617177T>G | CA380977018 | B3GAT3 | c.428A>C (p.Gln143Pro) c.*550A>C (n.*550A>C) n.278A>C c.497A>C (p.Gln166Pro) c.407A>C (p.Gln136Pro) n.646A>C n.457A>C | |
| 11 | g.62617178G>A | CA380977021 | B3GAT3 | c.427C>T (p.Gln143Ter) c.*549C>T (n.*549C>T) n.277C>T c.496C>T (p.Gln166Ter) c.406C>T (p.Gln136Ter) n.645C>T n.456C>T | dbSNP |
| 11 | g.62617178G>C | CA380977022 | B3GAT3 | c.427C>G (p.Gln143Glu) c.*549C>G (n.*549C>G) n.277C>G c.496C>G (p.Gln166Glu) c.406C>G (p.Gln136Glu) n.645C>G n.456C>G | |
| 11 | g.62617178G= | CA1977821632 | B3GAT3 | c.427C= (p.Gln143=) c.*549C= (n.*549C=) n.277C= c.496C= (p.Gln166=) c.406C= (p.Gln136=) n.645C= n.456C= | |
| 11 | g.62617178G>T | CA380977023 | B3GAT3 | c.427C>A (p.Gln143Lys) c.*549C>A (n.*549C>A) n.277C>A c.496C>A (p.Gln166Lys) c.406C>A (p.Gln136Lys) n.645C>A n.456C>A | |
| 11 | g.62617179G>A | CA475129799 | B3GAT3 | c.426C>T (p.Ala142=) c.*548C>T (n.*548C>T) n.276C>T c.495C>T (p.Ala165=) c.405C>T (p.Ala135=) n.644C>T n.455C>T | |
| 11 | g.62617179G>C | CA475129800 | B3GAT3 | c.426C>G (p.Ala142=) c.*548C>G (n.*548C>G) n.276C>G c.495C>G (p.Ala165=) c.405C>G (p.Ala135=) n.644C>G n.455C>G | |
| 11 | g.62617179G= | CA1977821635 | B3GAT3 | c.426C= (p.Ala142=) c.*548C= (n.*548C=) n.276C= c.495C= (p.Ala165=) c.405C= (p.Ala135=) n.644C= n.455C= | |
| 11 | g.62617179G>T | CA6050123 | B3GAT3 | c.426C>A (p.Ala142=) c.*548C>A (n.*548C>A) n.276C>A c.495C>A (p.Ala165=) c.405C>A (p.Ala135=) n.644C>A n.455C>A | dbSNP ExAC gnomAD v2 |
| 11 | g.62617179_62617188delinsGGCTTTGGGC | CA1977821639 | B3GAT3 | c.417_426delinsGCCCAAAGCC (p.Thr139=) c.*539_*548delinsGCCCAAAGCC (n.*539_*548delinsGCCCAAAGCC) n.267_276delinsGCCCAAAGCC c.486_495delinsGCCCAAAGCC (p.Thr162=) c.396_405delinsGCCCAAAGCC (p.Thr132=) n.635_644delinsGCCCAAAGCC n.446_455delinsGCCCAAAGCC | |
| 11 | g.62617180G>A | CA380977024 | B3GAT3 | c.425C>T (p.Ala142Val) c.*547C>T (n.*547C>T) n.275C>T c.494C>T (p.Ala165Val) c.404C>T (p.Ala135Val) n.643C>T n.454C>T | gnomAD v4 |
| 11 | g.62617180G>C | CA380977025 | B3GAT3 | c.425C>G (p.Ala142Gly) c.*547C>G (n.*547C>G) n.275C>G c.494C>G (p.Ala165Gly) c.404C>G (p.Ala135Gly) n.643C>G n.454C>G | |
| 11 | g.62617180G>T | CA380977026 | B3GAT3 | c.425C>A (p.Ala142Asp) c.*547C>A (n.*547C>A) n.275C>A c.494C>A (p.Ala165Asp) c.404C>A (p.Ala135Asp) n.643C>A n.454C>A | |
| 11 | g.62617181_62617189del | CA599797131 | B3GAT3 | c.417_425del (p.Pro140_Ala142del) c.*539_*547del (n.*539_*547del) n.267_275del c.486_494del (p.Pro163_Ala165del) c.396_404del (p.Pro133_Ala135del) n.635_643del n.446_454del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62617181C>A | CA380977027 | B3GAT3 | c.424G>T (p.Ala142Ser) c.*546G>T (n.*546G>T) n.274G>T c.493G>T (p.Ala165Ser) c.403G>T (p.Ala135Ser) n.642G>T n.453G>T | |
| 11 | g.62617181C= | CA1977821652 | B3GAT3 | c.424G= (p.Ala142=) c.*546G= (n.*546G=) n.274G= c.493G= (p.Ala165=) c.403G= (p.Ala135=) n.642G= n.453G= | |
| 11 | g.62617181C>G | CA380977028 | B3GAT3 | c.424G>C (p.Ala142Pro) c.*546G>C (n.*546G>C) n.274G>C c.493G>C (p.Ala165Pro) c.403G>C (p.Ala135Pro) n.642G>C n.453G>C | |
| 11 | g.62617181C>T | CA6050124 | B3GAT3 | c.424G>A (p.Ala142Thr) c.*546G>A (n.*546G>A) n.274G>A c.493G>A (p.Ala165Thr) c.403G>A (p.Ala135Thr) n.642G>A n.453G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62617182T>A | CA380977029 | B3GAT3 | c.423A>T (p.Lys141Asn) c.*545A>T (n.*545A>T) n.273A>T c.492A>T (p.Lys164Asn) c.402A>T (p.Lys134Asn) n.641A>T n.452A>T | |
| 11 | g.62617182T>C | CA475129803 | B3GAT3 | c.423A>G (p.Lys141=) c.*545A>G (n.*545A>G) n.273A>G c.492A>G (p.Lys164=) c.402A>G (p.Lys134=) n.641A>G n.452A>G | |
| 11 | g.62617182T>G | CA380977030 | B3GAT3 | c.423A>C (p.Lys141Asn) c.*545A>C (n.*545A>C) n.273A>C c.492A>C (p.Lys164Asn) c.402A>C (p.Lys134Asn) n.641A>C n.452A>C | |
| 11 | g.62617183T>A | CA6050125 | B3GAT3 | c.422A>T (p.Lys141Ile) c.*544A>T (n.*544A>T) n.272A>T c.491A>T (p.Lys164Ile) c.401A>T (p.Lys134Ile) n.640A>T n.451A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62617183T>C | CA380977032 | B3GAT3 | c.422A>G (p.Lys141Arg) c.*544A>G (n.*544A>G) n.272A>G c.491A>G (p.Lys164Arg) c.401A>G (p.Lys134Arg) n.640A>G n.451A>G | |
| 11 | g.62617183T>G | CA380977031 | B3GAT3 | c.422A>C (p.Lys141Thr) c.*544A>C (n.*544A>C) n.272A>C c.491A>C (p.Lys164Thr) c.401A>C (p.Lys134Thr) n.640A>C n.451A>C | dbSNP |
| 11 | g.62617183T= | CA1977821656 | B3GAT3 | c.422A= (p.Lys141=) c.*544A= (n.*544A=) n.272A= c.491A= (p.Lys164=) c.401A= (p.Lys134=) n.640A= n.451A= | |
| 11 | g.62617184T>A | CA380977034 | B3GAT3 | c.421A>T (p.Lys141Ter) c.*543A>T (n.*543A>T) n.271A>T c.490A>T (p.Lys164Ter) c.400A>T (p.Lys134Ter) n.639A>T n.450A>T | |
| 11 | g.62617184T>C | CA380977033 | B3GAT3 | c.421A>G (p.Lys141Glu) c.*543A>G (n.*543A>G) n.271A>G c.490A>G (p.Lys164Glu) c.400A>G (p.Lys134Glu) n.639A>G n.450A>G | |
| 11 | g.62617184T>G | CA223039228 | B3GAT3 | c.421A>C (p.Lys141Gln) c.*543A>C (n.*543A>C) n.271A>C c.490A>C (p.Lys164Gln) c.400A>C (p.Lys134Gln) n.639A>C n.450A>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62617184T= | CA1977821663 | B3GAT3 | c.421A= (p.Lys141=) c.*543A= (n.*543A=) n.271A= c.490A= (p.Lys164=) c.400A= (p.Lys134=) n.639A= n.450A= | |
| 11 | g.62617185G>A | CA475129807 | B3GAT3 | c.420C>T (p.Pro140=) c.*542C>T (n.*542C>T) n.270C>T c.489C>T (p.Pro163=) c.399C>T (p.Pro133=) n.638C>T n.449C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62617185G>C | CA475129808 | B3GAT3 | c.420C>G (p.Pro140=) c.*542C>G (n.*542C>G) n.270C>G c.489C>G (p.Pro163=) c.399C>G (p.Pro133=) n.638C>G n.449C>G | |
| 11 | g.62617185G= | CA1977821675 | B3GAT3 | c.420C= (p.Pro140=) c.*542C= (n.*542C=) n.270C= c.489C= (p.Pro163=) c.399C= (p.Pro133=) n.638C= n.449C= | |
| 11 | g.62617185G>T | CA475129809 | B3GAT3 | c.420C>A (p.Pro140=) c.*542C>A (n.*542C>A) n.270C>A c.489C>A (p.Pro163=) c.399C>A (p.Pro133=) n.638C>A n.449C>A | |
| 11 | g.62617186G>A | CA10576094 | B3GAT3 | c.419C>T (p.Pro140Leu) c.*541C>T (n.*541C>T) n.269C>T c.488C>T (p.Pro163Leu) c.398C>T (p.Pro133Leu) n.637C>T n.448C>T | ClinVar dbSNP |
| 11 | g.62617186G>C | CA380977035 | B3GAT3 | c.419C>G (p.Pro140Arg) c.*541C>G (n.*541C>G) n.269C>G c.488C>G (p.Pro163Arg) c.398C>G (p.Pro133Arg) n.637C>G n.448C>G |