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 |
|---|---|---|---|---|---|
| 5 | g.42693762_42694983del | CA2580073294 | GHR | c.267-1155_333del c.201-1155_267del c.137-1155_203del c.288-1155_354del c.222-1155_288del | ClinVar |
| 5 | g.42694920_42694932delinsCACTCAAGAATGG | CA1542287706 | GHR | c.270_282delinsCACTCAAGAATGG (p.Asn90=) c.204_216delinsCACTCAAGAATGG (p.Asn68=) c.140_152delinsCACTCAAGAATGG (p.Thr47=) c.291_303delinsCACTCAAGAATGG (p.Asn97=) c.225_237delinsCACTCAAGAATGG (p.Asn75=) | |
| 5 | g.42694934_42694945del | CA1075502897 | GHR | c.284_295del (p.Thr95_Trp98del) c.218_229del (p.Thr73_Trp76del) c.154_165del (p.Leu52_Gly55del) c.305_316del (p.Thr102_Trp105del) c.239_250del (p.Thr80_Trp83del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42694931G>A | CA16609443 | GHR | c.281G>A (p.Trp94Ter) c.215G>A (p.Trp72Ter) c.151G>A (p.Gly51Arg) c.302G>A (p.Trp101Ter) c.236G>A (p.Trp79Ter) | ClinVar dbSNP |
| 5 | g.42694931G>C | CA359695009 | GHR | c.281G>C (p.Trp94Ser) c.215G>C (p.Trp72Ser) c.151G>C (p.Gly51Arg) c.302G>C (p.Trp101Ser) c.236G>C (p.Trp79Ser) | |
| 5 | g.42694931G= | CA1542287732 | GHR | c.281G= (p.Trp94=) c.215G= (p.Trp72=) c.151G= (p.Gly51=) c.302G= (p.Trp101=) c.236G= (p.Trp79=) | |
| 5 | g.42694931G>T | CA359695010 | GHR | c.281G>T (p.Trp94Leu) c.215G>T (p.Trp72Leu) c.151G>T (p.Gly51Ter) c.302G>T (p.Trp101Leu) c.236G>T (p.Trp79Leu) | |
| 5 | g.42694932del | CA2578302076 | GHR | c.282del (p.Trp94Ter) c.216del (p.Trp72Ter) c.152del (p.Gly51AspfsTer9) c.303del (p.Trp101Ter) c.237del (p.Trp79Ter) | |
| 5 | g.42694932G>A | CA359695011 | GHR | c.282G>A (p.Trp94Ter) c.216G>A (p.Trp72Ter) c.152G>A (p.Gly51Glu) c.303G>A (p.Trp101Ter) c.237G>A (p.Trp79Ter) | |
| 5 | g.42694932G>C | CA359695012 | GHR | c.282G>C (p.Trp94Cys) c.216G>C (p.Trp72Cys) c.152G>C (p.Gly51Ala) c.303G>C (p.Trp101Cys) c.237G>C (p.Trp79Cys) | |
| 5 | g.42694932G>T | CA359695013 | GHR | c.282G>T (p.Trp94Cys) c.216G>T (p.Trp72Cys) c.152G>T (p.Gly51Val) c.303G>T (p.Trp101Cys) c.237G>T (p.Trp79Cys) | |
| 5 | g.42694933A= | CA1542287739 | GHR | c.283A= (p.Thr95=) c.217A= (p.Thr73=) c.153A= (p.Gly51=) c.304A= (p.Thr102=) c.238A= (p.Thr80=) | |
| 5 | g.42694933A>C | CA359695014 | GHR | c.283A>C (p.Thr95Pro) c.217A>C (p.Thr73Pro) c.153A>C (p.Gly51=) c.304A>C (p.Thr102Pro) c.238A>C (p.Thr80Pro) | |
| 5 | g.42694933A>G | CA359695016 | GHR | c.283A>G (p.Thr95Ala) c.217A>G (p.Thr73Ala) c.153A>G (p.Gly51=) c.304A>G (p.Thr102Ala) c.238A>G (p.Thr80Ala) | |
| 5 | g.42694933A>T | CA359695015 | GHR | c.283A>T (p.Thr95Ser) c.217A>T (p.Thr73Ser) c.153A>T (p.Gly51=) c.304A>T (p.Thr102Ser) c.238A>T (p.Thr80Ser) | dbSNP |
| 5 | g.42694934C>A | CA359695017 | GHR | c.284C>A (p.Thr95Asn) c.218C>A (p.Thr73Asn) c.154C>A (p.Leu52Ile) c.305C>A (p.Thr102Asn) c.239C>A (p.Thr80Asn) | |
| 5 | g.42694934C= | CA1542287749 | GHR | c.284C= (p.Thr95=) c.218C= (p.Thr73=) c.154C= (p.Leu52=) c.305C= (p.Thr102=) c.239C= (p.Thr80=) | |
| 5 | g.42694934C>G | CA359695018 | GHR | c.284C>G (p.Thr95Ser) c.218C>G (p.Thr73Ser) c.154C>G (p.Leu52Val) c.305C>G (p.Thr102Ser) c.239C>G (p.Thr80Ser) | |
| 5 | g.42694934C>T | CA359695019 | GHR | c.284C>T (p.Thr95Ile) c.218C>T (p.Thr73Ile) c.154C>T (p.Leu52Phe) c.305C>T (p.Thr102Ile) c.239C>T (p.Thr80Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694935T>A | CA443840312 | GHR | c.285T>A (p.Thr95=) c.219T>A (p.Thr73=) c.155T>A (p.Leu52His) c.306T>A (p.Thr102=) c.240T>A (p.Thr80=) | |
| 5 | g.42694935T>C | CA443840314 | GHR | c.285T>C (p.Thr95=) c.219T>C (p.Thr73=) c.155T>C (p.Leu52Pro) c.306T>C (p.Thr102=) c.240T>C (p.Thr80=) | |
| 5 | g.42694935T>G | CA443840318 | GHR | c.285T>G (p.Thr95=) c.219T>G (p.Thr73=) c.155T>G (p.Leu52Arg) c.306T>G (p.Thr102=) c.240T>G (p.Thr80=) | |
| 5 | g.42694936C>A | CA359695020 | GHR | c.286C>A (p.Gln96Lys) c.220C>A (p.Gln74Lys) c.156C>A (p.Leu52=) c.307C>A (p.Gln103Lys) c.241C>A (p.Gln81Lys) | |
| 5 | g.42694936C= | CA1542287750 | GHR | c.286C= (p.Gln96=) c.220C= (p.Gln74=) c.156C= (p.Leu52=) c.307C= (p.Gln103=) c.241C= (p.Gln81=) | |
| 5 | g.42694936C>G | CA359695021 | GHR | c.286C>G (p.Gln96Glu) c.220C>G (p.Gln74Glu) c.156C>G (p.Leu52=) c.307C>G (p.Gln103Glu) c.241C>G (p.Gln81Glu) | dbSNP gnomAD v4 |
| 5 | g.42694936C>T | CA359695022 | GHR | c.286C>T (p.Gln96Ter) c.220C>T (p.Gln74Ter) c.156C>T (p.Leu52=) c.307C>T (p.Gln103Ter) c.241C>T (p.Gln81Ter) | |
| 5 | g.42694937A>C | CA359695023 | GHR | c.287A>C (p.Gln96Pro) c.221A>C (p.Gln74Pro) c.157A>C (p.Lys53Gln) c.308A>C (p.Gln103Pro) c.242A>C (p.Gln81Pro) | |
| 5 | g.42694937A>G | CA359695024 | GHR | c.287A>G (p.Gln96Arg) c.221A>G (p.Gln74Arg) c.157A>G (p.Lys53Glu) c.308A>G (p.Gln103Arg) c.242A>G (p.Gln81Arg) | gnomAD v4 |
| 5 | g.42694937A>T | CA359695025 | GHR | c.287A>T (p.Gln96Leu) c.221A>T (p.Gln74Leu) c.157A>T (p.Lys53Ter) c.308A>T (p.Gln103Leu) c.242A>T (p.Gln81Leu) | |
| 5 | g.42694938A= | CA1542287755 | GHR | c.288A= (p.Gln96=) c.222A= (p.Gln74=) c.158A= (p.Lys53=) c.309A= (p.Gln103=) c.243A= (p.Gln81=) | |
| 5 | g.42694938A>C | CA359695026 | GHR | c.288A>C (p.Gln96His) c.222A>C (p.Gln74His) c.158A>C (p.Lys53Thr) c.309A>C (p.Gln103His) c.243A>C (p.Gln81His) | |
| 5 | g.42694938A>G | CA443840337 | GHR | c.288A>G (p.Gln96=) c.222A>G (p.Gln74=) c.158A>G (p.Lys53Arg) c.309A>G (p.Gln103=) c.243A>G (p.Gln81=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.42694938A>T | CA359695027 | GHR | c.288A>T (p.Gln96His) c.222A>T (p.Gln74His) c.158A>T (p.Lys53Met) c.309A>T (p.Gln103His) c.243A>T (p.Gln81His) | |
| 5 | g.42694939G>A | CA359695029 | GHR | c.289G>A (p.Glu97Lys) c.223G>A (p.Glu75Lys) c.159G>A (p.Lys53=) c.310G>A (p.Glu104Lys) c.244G>A (p.Glu82Lys) | ClinVar gnomAD v4 |
| 5 | g.42694939G>C | CA359695030 | GHR | c.289G>C (p.Glu97Gln) c.223G>C (p.Glu75Gln) c.159G>C (p.Lys53Asn) c.310G>C (p.Glu104Gln) c.244G>C (p.Glu82Gln) | |
| 5 | g.42694939G>T | CA359695028 | GHR | c.289G>T (p.Glu97Ter) c.223G>T (p.Glu75Ter) c.159G>T (p.Lys53Asn) c.310G>T (p.Glu104Ter) c.244G>T (p.Glu82Ter) | |
| 5 | g.42694940A>C | CA359695031 | GHR | c.290A>C (p.Glu97Ala) c.224A>C (p.Glu75Ala) c.160A>C (p.Asn54His) c.311A>C (p.Glu104Ala) c.245A>C (p.Glu82Ala) | |
| 5 | g.42694940A>G | CA359695032 | GHR | c.290A>G (p.Glu97Gly) c.224A>G (p.Glu75Gly) c.160A>G (p.Asn54Asp) c.311A>G (p.Glu104Gly) c.245A>G (p.Glu82Gly) | |
| 5 | g.42694940A>T | CA359695033 | GHR | c.290A>T (p.Glu97Val) c.224A>T (p.Glu75Val) c.160A>T (p.Asn54Tyr) c.311A>T (p.Glu104Val) c.245A>T (p.Glu82Val) | |
| 5 | g.42694941A>C | CA359695034 | GHR | c.291A>C (p.Glu97Asp) c.225A>C (p.Glu75Asp) c.161A>C (p.Asn54Thr) c.312A>C (p.Glu104Asp) c.246A>C (p.Glu82Asp) | |
| 5 | g.42694941A>G | CA443840364 | GHR | c.291A>G (p.Glu97=) c.225A>G (p.Glu75=) c.161A>G (p.Asn54Ser) c.312A>G (p.Glu104=) c.246A>G (p.Glu82=) | |
| 5 | g.42694941A>T | CA359695035 | GHR | c.291A>T (p.Glu97Asp) c.225A>T (p.Glu75Asp) c.161A>T (p.Asn54Ile) c.312A>T (p.Glu104Asp) c.246A>T (p.Glu82Asp) | |
| 5 | g.42694942T>A | CA359695036 | GHR | c.292T>A (p.Trp98Arg) c.226T>A (p.Trp76Arg) c.162T>A (p.Asn54Lys) c.313T>A (p.Trp105Arg) c.247T>A (p.Trp83Arg) | |
| 5 | g.42694942T>C | CA359695037 | GHR | c.292T>C (p.Trp98Arg) c.226T>C (p.Trp76Arg) c.162T>C (p.Asn54=) c.313T>C (p.Trp105Arg) c.247T>C (p.Trp83Arg) | |
| 5 | g.42694942T>G | CA359695038 | GHR | c.292T>G (p.Trp98Gly) c.226T>G (p.Trp76Gly) c.162T>G (p.Asn54Lys) c.313T>G (p.Trp105Gly) c.247T>G (p.Trp83Gly) | |
| 5 | g.42694943G>A | CA359695039 | GHR | c.293G>A (p.Trp98Ter) c.227G>A (p.Trp76Ter) c.163G>A (p.Gly55Arg) c.314G>A (p.Trp105Ter) c.248G>A (p.Trp83Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694943G>C | CA359695040 | GHR | c.293G>C (p.Trp98Ser) c.227G>C (p.Trp76Ser) c.163G>C (p.Gly55Arg) c.314G>C (p.Trp105Ser) c.248G>C (p.Trp83Ser) | |
| 5 | g.42694943G= | CA1542287760 | GHR | c.293G= (p.Trp98=) c.227G= (p.Trp76=) c.163G= (p.Gly55=) c.314G= (p.Trp105=) c.248G= (p.Trp83=) | |
| 5 | g.42694943G>T | CA359695041 | GHR | c.293G>T (p.Trp98Leu) c.227G>T (p.Trp76Leu) c.163G>T (p.Gly55Ter) c.314G>T (p.Trp105Leu) c.248G>T (p.Trp83Leu) | |
| 5 | g.42694944G>A | CA359695042 | GHR | c.294G>A (p.Trp98Ter) c.228G>A (p.Trp76Ter) c.164G>A (p.Gly55Glu) c.315G>A (p.Trp105Ter) c.249G>A (p.Trp83Ter) |