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 |
|---|---|---|---|---|---|
| 15 | g.43253549_43253550delinsAG | CA2173102963 | TGM5 | c.640_641delinsCT (p.Leu214=) n.109_110delinsCT c.394_395delinsCT (p.Leu132=) c.637_638delinsCT (p.Leu213=) c.391_392delinsCT (p.Leu131=) c.643_644delinsCT (p.Leu215=) n.814_815delinsCT | |
| 15 | g.43253550del | CA170982 | TGM5 | c.640del (p.Leu214CysfsTer15) n.109del c.394del (p.Leu132CysfsTer15) c.637del (p.Leu213CysfsTer15) c.391del (p.Leu131CysfsTer15) c.643del (p.Leu215CysfsTer15) n.814del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43253550G>A | CA490131719 | TGM5 | c.640C>T (p.Leu214=) n.109C>T c.394C>T (p.Leu132=) c.637C>T (p.Leu213=) c.391C>T (p.Leu131=) c.643C>T (p.Leu215=) n.814C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43253550G>C | CA392100790 | TGM5 | c.640C>G (p.Leu214Val) n.109C>G c.394C>G (p.Leu132Val) c.637C>G (p.Leu213Val) c.391C>G (p.Leu131Val) c.643C>G (p.Leu215Val) n.814C>G | |
| 15 | g.43253550G= | CA2173102964 | TGM5 | c.640C= (p.Leu214=) n.109C= c.394C= (p.Leu132=) c.637C= (p.Leu213=) c.391C= (p.Leu131=) c.643C= (p.Leu215=) n.814C= | |
| 15 | g.43253550G>T | CA7521279 | TGM5 | c.640C>A (p.Leu214Met) n.109C>A c.394C>A (p.Leu132Met) c.637C>A (p.Leu213Met) c.391C>A (p.Leu131Met) c.643C>A (p.Leu215Met) n.814C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43253551A>C | CA490131725 | TGM5 | c.639T>G (p.Ala213=) n.108T>G c.393T>G (p.Ala131=) c.636T>G (p.Ala212=) c.390T>G (p.Ala130=) c.642T>G (p.Ala214=) n.813T>G | |
| 15 | g.43253551A>G | CA490131723 | TGM5 | c.639T>C (p.Ala213=) n.108T>C c.393T>C (p.Ala131=) c.636T>C (p.Ala212=) c.390T>C (p.Ala130=) c.642T>C (p.Ala214=) n.813T>C | |
| 15 | g.43253551A>T | CA490131724 | TGM5 | c.639T>A (p.Ala213=) n.108T>A c.393T>A (p.Ala131=) c.636T>A (p.Ala212=) c.390T>A (p.Ala130=) c.642T>A (p.Ala214=) n.813T>A | |
| 15 | g.43253552G>A | CA392100810 | TGM5 | c.638C>T (p.Ala213Val) n.107C>T c.392C>T (p.Ala131Val) c.635C>T (p.Ala212Val) c.389C>T (p.Ala130Val) c.641C>T (p.Ala214Val) n.812C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43253552G>C | CA392100803 | TGM5 | c.638C>G (p.Ala213Gly) n.107C>G c.392C>G (p.Ala131Gly) c.635C>G (p.Ala212Gly) c.389C>G (p.Ala130Gly) c.641C>G (p.Ala214Gly) n.812C>G | |
| 15 | g.43253552G= | CA2173102965 | TGM5 | c.638C= (p.Ala213=) n.107C= c.392C= (p.Ala131=) c.635C= (p.Ala212=) c.389C= (p.Ala130=) c.641C= (p.Ala214=) n.812C= | |
| 15 | g.43253552G>T | CA392100807 | TGM5 | c.638C>A (p.Ala213Asp) n.107C>A c.392C>A (p.Ala131Asp) c.635C>A (p.Ala212Asp) c.389C>A (p.Ala130Asp) c.641C>A (p.Ala214Asp) n.812C>A | |
| 15 | g.43253553C>A | CA392100814 | TGM5 | c.637G>T (p.Ala213Ser) n.106G>T c.391G>T (p.Ala131Ser) c.634G>T (p.Ala212Ser) c.388G>T (p.Ala130Ser) c.640G>T (p.Ala214Ser) n.811G>T | |
| 15 | g.43253553C>G | CA392100816 | TGM5 | c.637G>C (p.Ala213Pro) n.106G>C c.391G>C (p.Ala131Pro) c.634G>C (p.Ala212Pro) c.388G>C (p.Ala130Pro) c.640G>C (p.Ala214Pro) n.811G>C | |
| 15 | g.43253553C>T | CA392100823 | TGM5 | c.637G>A (p.Ala213Thr) n.106G>A c.391G>A (p.Ala131Thr) c.634G>A (p.Ala212Thr) c.388G>A (p.Ala130Thr) c.640G>A (p.Ala214Thr) n.811G>A | gnomAD v4 |
| 15 | g.43253554A>C | CA392100826 | TGM5 | c.636T>G (p.Cys212Trp) n.105T>G c.390T>G (p.Cys130Trp) c.633T>G (p.Cys211Trp) c.387T>G (p.Cys129Trp) c.639T>G (p.Cys213Trp) n.810T>G | |
| 15 | g.43253554A>G | CA490131728 | TGM5 | c.636T>C (p.Cys212=) n.105T>C c.390T>C (p.Cys130=) c.633T>C (p.Cys211=) c.387T>C (p.Cys129=) c.639T>C (p.Cys213=) n.810T>C | |
| 15 | g.43253554A>T | CA392100831 | TGM5 | c.636T>A (p.Cys212Ter) n.105T>A c.390T>A (p.Cys130Ter) c.633T>A (p.Cys211Ter) c.387T>A (p.Cys129Ter) c.639T>A (p.Cys213Ter) n.810T>A | |
| 15 | g.43253555C>A | CA392100845 | TGM5 | c.635G>T (p.Cys212Phe) n.104G>T c.389G>T (p.Cys130Phe) c.632G>T (p.Cys211Phe) c.386G>T (p.Cys129Phe) c.638G>T (p.Cys213Phe) n.809G>T | COSMIC |
| 15 | g.43253555C= | CA2173102966 | TGM5 | c.635G= (p.Cys212=) n.104G= c.389G= (p.Cys130=) c.632G= (p.Cys211=) c.386G= (p.Cys129=) c.638G= (p.Cys213=) n.809G= | |
| 15 | g.43253555C>G | CA392100835 | TGM5 | c.635G>C (p.Cys212Ser) n.104G>C c.389G>C (p.Cys130Ser) c.632G>C (p.Cys211Ser) c.386G>C (p.Cys129Ser) c.638G>C (p.Cys213Ser) n.809G>C | |
| 15 | g.43253555C>T | CA269976072 | TGM5 | c.635G>A (p.Cys212Tyr) n.104G>A c.389G>A (p.Cys130Tyr) c.632G>A (p.Cys211Tyr) c.386G>A (p.Cys129Tyr) c.638G>A (p.Cys213Tyr) n.809G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43253556A= | CA2173102967 | TGM5 | c.634T= (p.Cys212=) n.103T= c.388T= (p.Cys130=) c.631T= (p.Cys211=) c.385T= (p.Cys129=) c.637T= (p.Cys213=) n.808T= | |
| 15 | g.43253556A>C | CA392100848 | TGM5 | c.634T>G (p.Cys212Gly) n.103T>G c.388T>G (p.Cys130Gly) c.631T>G (p.Cys211Gly) c.385T>G (p.Cys129Gly) c.637T>G (p.Cys213Gly) n.808T>G | |
| 15 | g.43253556A>G | CA269976074 | TGM5 | c.634T>C (p.Cys212Arg) n.103T>C c.388T>C (p.Cys130Arg) c.631T>C (p.Cys211Arg) c.385T>C (p.Cys129Arg) c.637T>C (p.Cys213Arg) n.808T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43253556A>T | CA392100861 | TGM5 | c.634T>A (p.Cys212Ser) n.103T>A c.388T>A (p.Cys130Ser) c.631T>A (p.Cys211Ser) c.385T>A (p.Cys129Ser) c.637T>A (p.Cys213Ser) n.808T>A | |
| 15 | g.43253557G>A | CA490131731 | TGM5 | c.633C>T (p.Asp211=) n.102C>T c.387C>T (p.Asp129=) c.630C>T (p.Asp210=) c.384C>T (p.Asp128=) c.636C>T (p.Asp212=) n.807C>T | |
| 15 | g.43253557G>C | CA392100864 | TGM5 | c.633C>G (p.Asp211Glu) n.102C>G c.387C>G (p.Asp129Glu) c.630C>G (p.Asp210Glu) c.384C>G (p.Asp128Glu) c.636C>G (p.Asp212Glu) n.807C>G | |
| 15 | g.43253557G>T | CA392100869 | TGM5 | c.633C>A (p.Asp211Glu) n.102C>A c.387C>A (p.Asp129Glu) c.630C>A (p.Asp210Glu) c.384C>A (p.Asp128Glu) c.636C>A (p.Asp212Glu) n.807C>A | gnomAD v4 |
| 15 | g.43253558T>A | CA392100876 | TGM5 | c.632A>T (p.Asp211Val) n.101A>T c.386A>T (p.Asp129Val) c.629A>T (p.Asp210Val) c.383A>T (p.Asp128Val) c.635A>T (p.Asp212Val) n.806A>T | |
| 15 | g.43253558T>C | CA392100880 | TGM5 | c.632A>G (p.Asp211Gly) n.101A>G c.386A>G (p.Asp129Gly) c.629A>G (p.Asp210Gly) c.383A>G (p.Asp128Gly) c.635A>G (p.Asp212Gly) n.806A>G | |
| 15 | g.43253558T>G | CA392100884 | TGM5 | c.632A>C (p.Asp211Ala) n.101A>C c.386A>C (p.Asp129Ala) c.629A>C (p.Asp210Ala) c.383A>C (p.Asp128Ala) c.635A>C (p.Asp212Ala) n.806A>C | |
| 15 | g.43253559C>A | CA392100890 | TGM5 | c.631G>T (p.Asp211Tyr) n.100G>T c.385G>T (p.Asp129Tyr) c.628G>T (p.Asp210Tyr) c.382G>T (p.Asp128Tyr) c.634G>T (p.Asp212Tyr) n.805G>T | |
| 15 | g.43253559C>G | CA392100892 | TGM5 | c.631G>C (p.Asp211His) n.100G>C c.385G>C (p.Asp129His) c.628G>C (p.Asp210His) c.382G>C (p.Asp128His) c.634G>C (p.Asp212His) n.805G>C | |
| 15 | g.43253559C>T | CA392100903 | TGM5 | c.631G>A (p.Asp211Asn) n.100G>A c.385G>A (p.Asp129Asn) c.628G>A (p.Asp210Asn) c.382G>A (p.Asp128Asn) c.634G>A (p.Asp212Asn) n.805G>A | |
| 15 | g.43253560T>A | CA490131734 | TGM5 | c.630A>T (p.Thr210=) n.99A>T c.384A>T (p.Thr128=) c.627A>T (p.Thr209=) c.381A>T (p.Thr127=) c.633A>T (p.Thr211=) n.804A>T | |
| 15 | g.43253560T>C | CA7521280 | TGM5 | c.630A>G (p.Thr210=) n.99A>G c.384A>G (p.Thr128=) c.627A>G (p.Thr209=) c.381A>G (p.Thr127=) c.633A>G (p.Thr211=) n.804A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43253560T>G | CA490131735 | TGM5 | c.630A>C (p.Thr210=) n.99A>C c.384A>C (p.Thr128=) c.627A>C (p.Thr209=) c.381A>C (p.Thr127=) c.633A>C (p.Thr211=) n.804A>C | |
| 15 | g.43253560T= | CA2173102968 | TGM5 | c.630A= (p.Thr210=) n.99A= c.384A= (p.Thr128=) c.627A= (p.Thr209=) c.381A= (p.Thr127=) c.633A= (p.Thr211=) n.804A= | |
| 15 | g.43253562_43253563del | CA2628101364 | TGM5 | c.629_630del (p.Thr210ArgfsTer23) n.98_99del c.383_384del (p.Thr128ArgfsTer23) c.626_627del (p.Thr209ArgfsTer23) c.380_381del (p.Thr127ArgfsTer23) c.632_633del (p.Thr211ArgfsTer23) n.803_804del | gnomAD v4 |
| 15 | g.43253561G>A | CA392100911 | TGM5 | c.629C>T (p.Thr210Ile) n.98C>T c.383C>T (p.Thr128Ile) c.626C>T (p.Thr209Ile) c.380C>T (p.Thr127Ile) c.632C>T (p.Thr211Ile) n.803C>T | gnomAD v4 |
| 15 | g.43253561G>C | CA392100916 | TGM5 | c.629C>G (p.Thr210Arg) n.98C>G c.383C>G (p.Thr128Arg) c.626C>G (p.Thr209Arg) c.380C>G (p.Thr127Arg) c.632C>G (p.Thr211Arg) n.803C>G | gnomAD v4 |
| 15 | g.43253561G>T | CA392100913 | TGM5 | c.629C>A (p.Thr210Lys) n.98C>A c.383C>A (p.Thr128Lys) c.626C>A (p.Thr209Lys) c.380C>A (p.Thr127Lys) c.632C>A (p.Thr211Lys) n.803C>A | |
| 15 | g.43253562T>A | CA392100929 | TGM5 | c.628A>T (p.Thr210Ser) n.97A>T c.382A>T (p.Thr128Ser) c.625A>T (p.Thr209Ser) c.379A>T (p.Thr127Ser) c.631A>T (p.Thr211Ser) n.802A>T | |
| 15 | g.43253562T>C | CA392100933 | TGM5 | c.628A>G (p.Thr210Ala) n.97A>G c.382A>G (p.Thr128Ala) c.625A>G (p.Thr209Ala) c.379A>G (p.Thr127Ala) c.631A>G (p.Thr211Ala) n.802A>G | |
| 15 | g.43253562T>G | CA392100936 | TGM5 | c.628A>C (p.Thr210Pro) n.97A>C c.382A>C (p.Thr128Pro) c.625A>C (p.Thr209Pro) c.379A>C (p.Thr127Pro) c.631A>C (p.Thr211Pro) n.802A>C | |
| 15 | g.43253563G>A | CA490131737 | TGM5 | c.627C>T (p.Ala209=) n.96C>T c.381C>T (p.Ala127=) c.624C>T (p.Ala208=) c.378C>T (p.Ala126=) c.630C>T (p.Ala210=) n.801C>T | gnomAD v4 |
| 15 | g.43253563G>C | CA490131739 | TGM5 | c.627C>G (p.Ala209=) n.96C>G c.381C>G (p.Ala127=) c.624C>G (p.Ala208=) c.378C>G (p.Ala126=) c.630C>G (p.Ala210=) n.801C>G | |
| 15 | g.43253563G>T | CA490131738 | TGM5 | c.627C>A (p.Ala209=) n.96C>A c.381C>A (p.Ala127=) c.624C>A (p.Ala208=) c.378C>A (p.Ala126=) c.630C>A (p.Ala210=) n.801C>A |