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 |
|---|---|---|---|---|---|
| 21 | g.43066259_43066260delinsAA | CA2579805922 | CBS | c.434_435delinsTT (p.Pro145Leu) n.745_746delinsTT n.877_878delinsTT c.485_486delinsTT (p.Pro162Leu) c.119_120delinsTT (p.Pro40Leu) n.805_806delinsTT n.584_585delinsTT | |
| 21 | g.43066259_43066260delinsAC | CA2579805930 | CBS | c.434_435delinsGT (p.Pro145Arg) n.745_746delinsGT n.877_878delinsGT c.485_486delinsGT (p.Pro162Arg) c.119_120delinsGT (p.Pro40Arg) n.805_806delinsGT n.584_585delinsGT | |
| 21 | g.43066259_43066260delinsAT | CA2579805925 | CBS | c.434_435delinsAT (p.Pro145His) n.745_746delinsAT n.877_878delinsAT c.485_486delinsAT (p.Pro162His) c.119_120delinsAT (p.Pro40His) n.805_806delinsAT n.584_585delinsAT | |
| 21 | g.43066259_43066260delinsTA | CA2579805921 | CBS | c.434_435delinsTA (p.Pro145Leu) n.745_746delinsTA n.877_878delinsTA c.485_486delinsTA (p.Pro162Leu) c.119_120delinsTA (p.Pro40Leu) n.805_806delinsTA n.584_585delinsTA | |
| 21 | g.43066259_43066261delinsAAA | CA2579805919 | CBS | c.433_435delinsTTT (p.Pro145Phe) n.744_746delinsTTT n.876_878delinsTTT c.484_486delinsTTT (p.Pro162Phe) c.118_120delinsTTT (p.Pro40Phe) n.804_806delinsTTT n.583_585delinsTTT | |
| 21 | g.43066259_43066261delinsAAC | CA2579805909 | CBS | c.433_435delinsGTT (p.Pro145Val) n.744_746delinsGTT n.876_878delinsGTT c.484_486delinsGTT (p.Pro162Val) c.118_120delinsGTT (p.Pro40Val) n.804_806delinsGTT n.583_585delinsGTT | |
| 21 | g.43066259_43066261delinsAAT | CA2579805924 | CBS | c.433_435delinsATT (p.Pro145Ile) n.744_746delinsATT n.876_878delinsATT c.484_486delinsATT (p.Pro162Ile) c.118_120delinsATT (p.Pro40Ile) n.804_806delinsATT n.583_585delinsATT | |
| 21 | g.43066259_43066261delinsACA | CA2579805928 | CBS | c.433_435delinsTGT (p.Pro145Cys) n.744_746delinsTGT n.876_878delinsTGT c.484_486delinsTGT (p.Pro162Cys) c.118_120delinsTGT (p.Pro40Cys) n.804_806delinsTGT n.583_585delinsTGT | |
| 21 | g.43066259_43066261delinsACC | CA2579805926 | CBS | c.433_435delinsGGT (p.Pro145Gly) n.744_746delinsGGT n.876_878delinsGGT c.484_486delinsGGT (p.Pro162Gly) c.118_120delinsGGT (p.Pro40Gly) n.804_806delinsGGT n.583_585delinsGGT | |
| 21 | g.43066259_43066261delinsACT | CA2579805916 | CBS | c.433_435delinsAGT (p.Pro145Ser) n.744_746delinsAGT n.876_878delinsAGT c.484_486delinsAGT (p.Pro162Ser) c.118_120delinsAGT (p.Pro40Ser) n.804_806delinsAGT n.583_585delinsAGT | |
| 21 | g.43066259_43066261delinsAGA | CA2579805917 | CBS | c.433_435delinsTCT (p.Pro145Ser) n.744_746delinsTCT n.876_878delinsTCT c.484_486delinsTCT (p.Pro162Ser) c.118_120delinsTCT (p.Pro40Ser) n.804_806delinsTCT n.583_585delinsTCT | |
| 21 | g.43066259_43066261delinsAGC | CA2579805932 | CBS | c.433_435delinsGCT (p.Pro145Ala) n.744_746delinsGCT n.876_878delinsGCT c.484_486delinsGCT (p.Pro162Ala) c.118_120delinsGCT (p.Pro40Ala) n.804_806delinsGCT n.583_585delinsGCT | |
| 21 | g.43066259_43066261delinsAGT | CA2579805914 | CBS | c.433_435delinsACT (p.Pro145Thr) n.744_746delinsACT n.876_878delinsACT c.484_486delinsACT (p.Pro162Thr) c.118_120delinsACT (p.Pro40Thr) n.804_806delinsACT n.583_585delinsACT | |
| 21 | g.43066259_43066261delinsATA | CA2579805912 | CBS | c.433_435delinsTAT (p.Pro145Tyr) n.744_746delinsTAT n.876_878delinsTAT c.484_486delinsTAT (p.Pro162Tyr) c.118_120delinsTAT (p.Pro40Tyr) n.804_806delinsTAT n.583_585delinsTAT | |
| 21 | g.43066259_43066261delinsATT | CA2579805929 | CBS | c.433_435delinsAAT (p.Pro145Asn) n.744_746delinsAAT n.876_878delinsAAT c.484_486delinsAAT (p.Pro162Asn) c.118_120delinsAAT (p.Pro40Asn) n.804_806delinsAAT n.583_585delinsAAT | |
| 21 | g.43066259_43066261delinsTGA | CA2579805918 | CBS | c.433_435delinsTCA (p.Pro145Ser) n.744_746delinsTCA n.876_878delinsTCA c.484_486delinsTCA (p.Pro162Ser) c.118_120delinsTCA (p.Pro40Ser) n.804_806delinsTCA n.583_585delinsTCA | |
| 21 | g.43066259_43066261delinsTGC | CA2579805933 | CBS | c.433_435delinsGCA (p.Pro145Ala) n.744_746delinsGCA n.876_878delinsGCA c.484_486delinsGCA (p.Pro162Ala) c.118_120delinsGCA (p.Pro40Ala) n.804_806delinsGCA n.583_585delinsGCA | |
| 21 | g.43066259_43066261delinsTGT | CA2579805913 | CBS | c.433_435delinsACA (p.Pro145Thr) n.744_746delinsACA n.876_878delinsACA c.484_486delinsACA (p.Pro162Thr) c.118_120delinsACA (p.Pro40Thr) n.804_806delinsACA n.583_585delinsACA | |
| 21 | g.43066260G>A | CA113876 | CBS | c.434C>T (p.Pro145Leu) n.745C>T n.877C>T c.485C>T (p.Pro162Leu) c.119C>T (p.Pro40Leu) n.805C>T n.584C>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.43066260G>C | CA410601659 | CBS | c.434C>G (p.Pro145Arg) n.745C>G n.877C>G c.485C>G (p.Pro162Arg) c.119C>G (p.Pro40Arg) n.805C>G n.584C>G | ClinVar |
| 21 | g.43066260G= | CA2391104134 | CBS | c.434C= (p.Pro145=) n.745C= n.877C= c.485C= (p.Pro162=) c.119C= (p.Pro40=) n.805C= n.584C= | |
| 21 | g.43066260G>T | CA410601661 | CBS | c.434C>A (p.Pro145Gln) n.745C>A n.877C>A c.485C>A (p.Pro162Gln) c.119C>A (p.Pro40Gln) n.805C>A n.584C>A | gnomAD v4 |
| 21 | g.43066260_43066261delinsAA | CA2579805923 | CBS | c.433_434delinsTT (p.Pro145Leu) n.744_745delinsTT n.876_877delinsTT c.484_485delinsTT (p.Pro162Leu) c.118_119delinsTT (p.Pro40Leu) n.804_805delinsTT n.583_584delinsTT | |
| 21 | g.43066260_43066261delinsAC | CA2579805911 | CBS | c.433_434delinsGT (p.Pro145Val) n.744_745delinsGT n.876_877delinsGT c.484_485delinsGT (p.Pro162Val) c.118_119delinsGT (p.Pro40Val) n.804_805delinsGT n.583_584delinsGT | |
| 21 | g.43066260_43066261delinsAT | CA2579805920 | CBS | c.433_434delinsAT (p.Pro145Met) n.744_745delinsAT n.876_877delinsAT c.484_485delinsAT (p.Pro162Met) c.118_119delinsAT (p.Pro40Met) n.804_805delinsAT n.583_584delinsAT | |
| 21 | g.43066260_43066261delinsCA | CA2579813557 | CBS | c.433_434delinsTG (p.Pro145Trp) n.744_745delinsTG n.876_877delinsTG c.484_485delinsTG (p.Pro162Trp) c.118_119delinsTG (p.Pro40Trp) n.804_805delinsTG n.583_584delinsTG | |
| 21 | g.43066260_43066261delinsCC | CA2579805927 | CBS | c.433_434delinsGG (p.Pro145Gly) n.744_745delinsGG n.876_877delinsGG c.484_485delinsGG (p.Pro162Gly) c.118_119delinsGG (p.Pro40Gly) n.804_805delinsGG n.583_584delinsGG | |
| 21 | g.43066260_43066261delinsCT | CA2579805931 | CBS | c.433_434delinsAG (p.Pro145Arg) n.744_745delinsAG n.876_877delinsAG c.484_485delinsAG (p.Pro162Arg) c.118_119delinsAG (p.Pro40Arg) n.804_805delinsAG n.583_584delinsAG | |
| 21 | g.43066260_43066261delinsTA | CA2579805915 | CBS | c.433_434delinsTA (p.Pro145Ter) n.744_745delinsTA n.876_877delinsTA c.484_485delinsTA (p.Pro162Ter) c.118_119delinsTA (p.Pro40Ter) n.804_805delinsTA n.583_584delinsTA | |
| 21 | g.43066261G>A | CA410601662 | CBS | c.433C>T (p.Pro145Ser) n.744C>T n.876C>T c.484C>T (p.Pro162Ser) c.118C>T (p.Pro40Ser) n.804C>T n.583C>T | gnomAD v4 |
| 21 | g.43066261G>C | CA410601664 | CBS | c.433C>G (p.Pro145Ala) n.744C>G n.876C>G c.484C>G (p.Pro162Ala) c.118C>G (p.Pro40Ala) n.804C>G n.583C>G | |
| 21 | g.43066261G>T | CA410601666 | CBS | c.433C>A (p.Pro145Thr) n.744C>A n.876C>A c.484C>A (p.Pro162Thr) c.118C>A (p.Pro40Thr) n.804C>A n.583C>A | gnomAD v4 |
| 21 | g.43066262C>A | CA410601668 | CBS | c.432G>T (p.Glu144Asp) n.743G>T n.875G>T c.483G>T (p.Glu161Asp) c.117G>T (p.Glu39Asp) n.803G>T n.582G>T | gnomAD v4 |
| 21 | g.43066262C>G | CA410601669 | CBS | c.432G>C (p.Glu144Asp) n.743G>C n.875G>C c.483G>C (p.Glu161Asp) c.117G>C (p.Glu39Asp) n.803G>C n.582G>C | |
| 21 | g.43066262C>T | CA2654728579 | CBS | c.432G>A (p.Glu144=) n.743G>A n.875G>A c.483G>A (p.Glu161=) c.117G>A (p.Glu39=) n.803G>A n.582G>A | gnomAD v4 |
| 21 | g.43066262_43066263delinsAA | CA2579810171 | CBS | c.431_432delinsTT (p.Glu144Val) n.742_743delinsTT n.874_875delinsTT c.482_483delinsTT (p.Glu161Val) c.116_117delinsTT (p.Glu39Val) n.802_803delinsTT n.581_582delinsTT | |
| 21 | g.43066262_43066263delinsAG | CA2579810191 | CBS | c.431_432delinsCT (p.Glu144Ala) n.742_743delinsCT n.874_875delinsCT c.482_483delinsCT (p.Glu161Ala) c.116_117delinsCT (p.Glu39Ala) n.802_803delinsCT n.581_582delinsCT | |
| 21 | g.43066262_43066263delinsTA | CA2579813743 | CBS | c.431_432delinsTA (p.Glu144Val) n.742_743delinsTA n.874_875delinsTA c.482_483delinsTA (p.Glu161Val) c.116_117delinsTA (p.Glu39Val) n.802_803delinsTA n.581_582delinsTA | |
| 21 | g.43066262_43066263delinsTC | CA2579810187 | CBS | c.431_432delinsGA (p.Glu144Gly) n.742_743delinsGA n.874_875delinsGA c.482_483delinsGA (p.Glu161Gly) c.116_117delinsGA (p.Glu39Gly) n.802_803delinsGA n.581_582delinsGA | |
| 21 | g.43066262_43066264delinsAAA | CA2579810178 | CBS | c.430_432delinsTTT (p.Glu144Phe) n.741_743delinsTTT n.873_875delinsTTT c.481_483delinsTTT (p.Glu161Phe) c.115_117delinsTTT (p.Glu39Phe) n.801_803delinsTTT n.580_582delinsTTT | |
| 21 | g.43066262_43066264delinsAAG | CA2579810185 | CBS | c.430_432delinsCTT (p.Glu144Leu) n.741_743delinsCTT n.873_875delinsCTT c.481_483delinsCTT (p.Glu161Leu) c.115_117delinsCTT (p.Glu39Leu) n.801_803delinsCTT n.580_582delinsCTT | |
| 21 | g.43066262_43066264delinsAAT | CA2579810184 | CBS | c.430_432delinsATT (p.Glu144Ile) n.741_743delinsATT n.873_875delinsATT c.481_483delinsATT (p.Glu161Ile) c.115_117delinsATT (p.Glu39Ile) n.801_803delinsATT n.580_582delinsATT | |
| 21 | g.43066262_43066264delinsACA | CA2579810188 | CBS | c.430_432delinsTGT (p.Glu144Cys) n.741_743delinsTGT n.873_875delinsTGT c.481_483delinsTGT (p.Glu161Cys) c.115_117delinsTGT (p.Glu39Cys) n.801_803delinsTGT n.580_582delinsTGT | |
| 21 | g.43066262_43066264delinsACG | CA2579810189 | CBS | c.430_432delinsCGT (p.Glu144Arg) n.741_743delinsCGT n.873_875delinsCGT c.481_483delinsCGT (p.Glu161Arg) c.115_117delinsCGT (p.Glu39Arg) n.801_803delinsCGT n.580_582delinsCGT | |
| 21 | g.43066262_43066264delinsAGA | CA2579810175 | CBS | c.430_432delinsTCT (p.Glu144Ser) n.741_743delinsTCT n.873_875delinsTCT c.481_483delinsTCT (p.Glu161Ser) c.115_117delinsTCT (p.Glu39Ser) n.801_803delinsTCT n.580_582delinsTCT | |
| 21 | g.43066262_43066264delinsAGT | CA2579810174 | CBS | c.430_432delinsACT (p.Glu144Thr) n.741_743delinsACT n.873_875delinsACT c.481_483delinsACT (p.Glu161Thr) c.115_117delinsACT (p.Glu39Thr) n.801_803delinsACT n.580_582delinsACT | |
| 21 | g.43066262_43066264delinsATA | CA2579810172 | CBS | c.430_432delinsTAT (p.Glu144Tyr) n.741_743delinsTAT n.873_875delinsTAT c.481_483delinsTAT (p.Glu161Tyr) c.115_117delinsTAT (p.Glu39Tyr) n.801_803delinsTAT n.580_582delinsTAT | |
| 21 | g.43066262_43066264delinsATG | CA2579810186 | CBS | c.430_432delinsCAT (p.Glu144His) n.741_743delinsCAT n.873_875delinsCAT c.481_483delinsCAT (p.Glu161His) c.115_117delinsCAT (p.Glu39His) n.801_803delinsCAT n.580_582delinsCAT | |
| 21 | g.43066262_43066264delinsTAA | CA2579810183 | CBS | c.430_432delinsTTA (p.Glu144Leu) n.741_743delinsTTA n.873_875delinsTTA c.481_483delinsTTA (p.Glu161Leu) c.115_117delinsTTA (p.Glu39Leu) n.801_803delinsTTA n.580_582delinsTTA | |
| 21 | g.43066262_43066264delinsTTT | CA2579810179 | CBS | c.430_432delinsAAA (p.Glu144Lys) n.741_743delinsAAA n.873_875delinsAAA c.481_483delinsAAA (p.Glu161Lys) c.115_117delinsAAA (p.Glu39Lys) n.801_803delinsAAA n.580_582delinsAAA |