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 |
|---|---|---|---|---|---|
| 17 | g.4955097dup | CA8316328 | ENO3 | c.467dup (p.Ser157LeufsTer?) c.338dup (p.Ser114LeufsTer?) c.*413dup (n.*413dup) c.494dup (p.Ser166LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955097G>A | CA126730 | ENO3 | c.467G>A (p.Gly156Asp) c.338G>A (p.Gly113Asp) c.*413G>A (n.*413G>A) c.494G>A (p.Gly165Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955097G>C | CA8316330 | ENO3 | c.467G>C (p.Gly156Ala) c.338G>C (p.Gly113Ala) c.*413G>C (n.*413G>C) c.494G>C (p.Gly165Ala) | dbSNP ExAC gnomAD v4 |
| 17 | g.4955097G= | CA2244628094 | ENO3 | c.467G= (p.Gly156=) c.338G= (p.Gly113=) c.*413G= (n.*413G=) c.494G= (p.Gly165=) | |
| 17 | g.4955097G>T | CA397289782 | ENO3 | c.467G>T (p.Gly156Val) c.338G>T (p.Gly113Val) c.*413G>T (n.*413G>T) c.494G>T (p.Gly165Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955098C>A | CA497679284 | ENO3 | c.468C>A (p.Gly156=) c.339C>A (p.Gly113=) c.*414C>A (n.*414C>A) c.495C>A (p.Gly165=) | |
| 17 | g.4955098C>G | CA497679283 | ENO3 | c.468C>G (p.Gly156=) c.339C>G (p.Gly113=) c.*414C>G (n.*414C>G) c.495C>G (p.Gly165=) | |
| 17 | g.4955098C>T | CA497679282 | ENO3 | c.468C>T (p.Gly156=) c.339C>T (p.Gly113=) c.*414C>T (n.*414C>T) c.495C>T (p.Gly165=) | ClinVar |
| 17 | g.4955099T>A | CA287175808 | ENO3 | c.469T>A (p.Ser157Thr) c.340T>A (p.Ser114Thr) c.*415T>A (n.*415T>A) c.496T>A (p.Ser166Thr) | dbSNP gnomAD v4 |
| 17 | g.4955099T>C | CA397289785 | ENO3 | c.469T>C (p.Ser157Pro) c.340T>C (p.Ser114Pro) c.*415T>C (n.*415T>C) c.496T>C (p.Ser166Pro) | dbSNP gnomAD v4 |
| 17 | g.4955099T>G | CA397289787 | ENO3 | c.469T>G (p.Ser157Ala) c.340T>G (p.Ser114Ala) c.*415T>G (n.*415T>G) c.496T>G (p.Ser166Ala) | ClinVar |
| 17 | g.4955099T= | CA2244628099 | ENO3 | c.469T= (p.Ser157=) c.340T= (p.Ser114=) c.*415T= (n.*415T=) c.496T= (p.Ser166=) | |
| 17 | g.4955100C>A | CA397289789 | ENO3 | c.470C>A (p.Ser157Tyr) c.341C>A (p.Ser114Tyr) c.*416C>A (n.*416C>A) c.497C>A (p.Ser166Tyr) | |
| 17 | g.4955100C>G | CA397289790 | ENO3 | c.470C>G (p.Ser157Cys) c.341C>G (p.Ser114Cys) c.*416C>G (n.*416C>G) c.497C>G (p.Ser166Cys) | |
| 17 | g.4955100C>T | CA397289792 | ENO3 | c.470C>T (p.Ser157Phe) c.341C>T (p.Ser114Phe) c.*416C>T (n.*416C>T) c.497C>T (p.Ser166Phe) | |
| 17 | g.4955101C>A | CA497679289 | ENO3 | c.471C>A (p.Ser157=) c.342C>A (p.Ser114=) c.*417C>A (n.*417C>A) c.498C>A (p.Ser166=) | COSMIC |
| 17 | g.4955101C>G | CA497679290 | ENO3 | c.471C>G (p.Ser157=) c.342C>G (p.Ser114=) c.*417C>G (n.*417C>G) c.498C>G (p.Ser166=) | |
| 17 | g.4955101C>T | CA497679291 | ENO3 | c.471C>T (p.Ser157=) c.342C>T (p.Ser114=) c.*417C>T (n.*417C>T) c.498C>T (p.Ser166=) | |
| 17 | g.4955102C>A | CA397289797 | ENO3 | c.472C>A (p.His158Asn) c.343C>A (p.His115Asn) c.*418C>A (n.*418C>A) c.499C>A (p.His167Asn) | |
| 17 | g.4955102C= | CA2244628102 | ENO3 | c.472C= (p.His158=) c.343C= (p.His115=) c.*418C= (n.*418C=) c.499C= (p.His167=) | |
| 17 | g.4955102C>G | CA397289798 | ENO3 | c.472C>G (p.His158Asp) c.343C>G (p.His115Asp) c.*418C>G (n.*418C>G) c.499C>G (p.His167Asp) | |
| 17 | g.4955102C>T | CA397289795 | ENO3 | c.472C>T (p.His158Tyr) c.343C>T (p.His115Tyr) c.*418C>T (n.*418C>T) c.499C>T (p.His167Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955103A= | CA2244628104 | ENO3 | c.473A= (p.His158=) c.344A= (p.His115=) c.*419A= (n.*419A=) c.500A= (p.His167=) | |
| 17 | g.4955103A>C | CA397289799 | ENO3 | c.473A>C (p.His158Pro) c.344A>C (p.His115Pro) c.*419A>C (n.*419A>C) c.500A>C (p.His167Pro) | |
| 17 | g.4955103A>G | CA8316331 | ENO3 | c.473A>G (p.His158Arg) c.344A>G (p.His115Arg) c.*419A>G (n.*419A>G) c.500A>G (p.His167Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955103A>T | CA397289800 | ENO3 | c.473A>T (p.His158Leu) c.344A>T (p.His115Leu) c.*419A>T (n.*419A>T) c.500A>T (p.His167Leu) | |
| 17 | g.4955104T>A | CA397289801 | ENO3 | c.474T>A (p.His158Gln) c.345T>A (p.His115Gln) c.*420T>A (n.*420T>A) c.501T>A (p.His167Gln) | |
| 17 | g.4955104T>C | CA497679292 | ENO3 | c.474T>C (p.His158=) c.345T>C (p.His115=) c.*420T>C (n.*420T>C) c.501T>C (p.His167=) | dbSNP gnomAD v4 |
| 17 | g.4955104T>G | CA397289802 | ENO3 | c.474T>G (p.His158Gln) c.345T>G (p.His115Gln) c.*420T>G (n.*420T>G) c.501T>G (p.His167Gln) | |
| 17 | g.4955104T= | CA2244628107 | ENO3 | c.474T= (p.His158=) c.345T= (p.His115=) c.*420T= (n.*420T=) c.501T= (p.His167=) | |
| 17 | g.4955105G>A | CA397289805 | ENO3 | c.475G>A (p.Ala159Thr) c.346G>A (p.Ala116Thr) c.*421G>A (n.*421G>A) c.502G>A (p.Ala168Thr) | gnomAD v4 |
| 17 | g.4955105G>C | CA397289804 | ENO3 | c.475G>C (p.Ala159Pro) c.346G>C (p.Ala116Pro) c.*421G>C (n.*421G>C) c.502G>C (p.Ala168Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955105G= | CA2244628109 | ENO3 | c.475G= (p.Ala159=) c.346G= (p.Ala116=) c.*421G= (n.*421G=) c.502G= (p.Ala168=) | |
| 17 | g.4955105G>T | CA397289803 | ENO3 | c.475G>T (p.Ala159Ser) c.346G>T (p.Ala116Ser) c.*421G>T (n.*421G>T) c.502G>T (p.Ala168Ser) | dbSNP gnomAD v4 |
| 17 | g.4955106C>A | CA397289806 | ENO3 | c.476C>A (p.Ala159Asp) c.347C>A (p.Ala116Asp) c.*422C>A (n.*422C>A) c.503C>A (p.Ala168Asp) | |
| 17 | g.4955106C>G | CA397289807 | ENO3 | c.476C>G (p.Ala159Gly) c.347C>G (p.Ala116Gly) c.*422C>G (n.*422C>G) c.503C>G (p.Ala168Gly) | |
| 17 | g.4955106C>T | CA397289808 | ENO3 | c.476C>T (p.Ala159Val) c.347C>T (p.Ala116Val) c.*422C>T (n.*422C>T) c.503C>T (p.Ala168Val) | |
| 17 | g.4955107T>A | CA497679297 | ENO3 | c.477T>A (p.Ala159=) c.348T>A (p.Ala116=) c.*423T>A (n.*423T>A) c.504T>A (p.Ala168=) | |
| 17 | g.4955107T>C | CA497679298 | ENO3 | c.477T>C (p.Ala159=) c.348T>C (p.Ala116=) c.*423T>C (n.*423T>C) c.504T>C (p.Ala168=) | dbSNP |
| 17 | g.4955107T>G | CA497679299 | ENO3 | c.477T>G (p.Ala159=) c.348T>G (p.Ala116=) c.*423T>G (n.*423T>G) c.504T>G (p.Ala168=) | |
| 17 | g.4955107T= | CA2244628111 | ENO3 | c.477T= (p.Ala159=) c.348T= (p.Ala116=) c.*423T= (n.*423T=) c.504T= (p.Ala168=) | |
| 17 | g.4955108G>A | CA397289809 | ENO3 | c.478G>A (p.Gly160Arg) c.349G>A (p.Gly117Arg) c.*424G>A (n.*424G>A) c.505G>A (p.Gly169Arg) | gnomAD v4 |
| 17 | g.4955108G>C | CA397289810 | ENO3 | c.478G>C (p.Gly160Arg) c.349G>C (p.Gly117Arg) c.*424G>C (n.*424G>C) c.505G>C (p.Gly169Arg) | |
| 17 | g.4955108G>T | CA397289811 | ENO3 | c.478G>T (p.Gly160Ter) c.349G>T (p.Gly117Ter) c.*424G>T (n.*424G>T) c.505G>T (p.Gly169Ter) | |
| 17 | g.4955109G>A | CA397289814 | ENO3 | c.479G>A (p.Gly160Glu) c.350G>A (p.Gly117Glu) c.*425G>A (n.*425G>A) c.506G>A (p.Gly169Glu) | gnomAD v4 |
| 17 | g.4955109G>C | CA397289813 | ENO3 | c.479G>C (p.Gly160Ala) c.350G>C (p.Gly117Ala) c.*425G>C (n.*425G>C) c.506G>C (p.Gly169Ala) | |
| 17 | g.4955109G>T | CA397289812 | ENO3 | c.479G>T (p.Gly160Val) c.350G>T (p.Gly117Val) c.*425G>T (n.*425G>T) c.506G>T (p.Gly169Val) | |
| 17 | g.4955110A= | CA2244628114 | ENO3 | c.480A= (p.Gly160=) c.351A= (p.Gly117=) c.*426A= (n.*426A=) c.507A= (p.Gly169=) | |
| 17 | g.4955110A>C | CA8316332 | ENO3 | c.480A>C (p.Gly160=) c.351A>C (p.Gly117=) c.*426A>C (n.*426A>C) c.507A>C (p.Gly169=) | dbSNP ExAC gnomAD v4 |
| 17 | g.4955110A>G | CA497679301 | ENO3 | c.480A>G (p.Gly160=) c.351A>G (p.Gly117=) c.*426A>G (n.*426A>G) c.507A>G (p.Gly169=) |