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 |
|---|---|---|---|---|---|
| 10 | g.87863437_87864548del | CA2581463480 | PTEN | c.-17+795_79del c.-17+324_79del c.-1033_79del | |
| 10 | g.87864519_87864571del | CA2695200936 | PTEN | c.50_79+23del c.569_598+23del n.52_81+23del n.71_100+23del c.-53_-24+23del n.19_71del c.-656_-627+23del n.762_791+23del | ClinVar |
| 10 | g.87864538_87864548del | CA2695200944 | PTEN | c.69_79del (p.Asp24TyrfsTer16) c.69_79del (p.Asp24PhefsTer3) c.69_79del (p.Leu23PhefsTer9) c.588_598del (p.Asp197TyrfsTer16) n.71_81del n.90_100del c.-34_-24del (n.-34_-24del) n.38_48del c.-637_-627del (n.-637_-627del) n.781_791del | ClinVar |
| 10 | g.87864543_87864548dup | CA1926143928 | PTEN | c.74_79dup (p.Thr26_Tyr27insLeuThr) c.74_79dup (p.Thr26_Cys27insLeuThr) c.74_79dup (p.Leu27_Glu28insThrLeu) c.593_598dup (p.Thr199_Tyr200insLeuThr) n.76_81dup n.95_100dup c.-29_-24dup (n.-29_-24dup) n.43_48dup c.-632_-627dup (n.-632_-627dup) n.786_791dup | ClinVar dbSNP |
| 10 | g.87864542_87864544del | CA2579927145 | PTEN | c.73_75del (p.Leu25del) c.592_594del (p.Leu198del) n.75_77del n.94_96del c.-30_-28del (n.-30_-28del) n.42_44del c.-633_-631del (n.-633_-631del) n.785_787del | |
| 10 | g.87864542_87864544delinsAAA | CA2579927147 | PTEN | c.73_75delinsAAA (p.Leu25Lys) c.592_594delinsAAA (p.Leu198Lys) n.75_77delinsAAA n.94_96delinsAAA c.-30_-28delinsAAA (n.-30_-28delinsAAA) n.42_44delinsAAA c.-633_-631delinsAAA (n.-633_-631delinsAAA) n.785_787delinsAAA | |
| 10 | g.87864542_87864544delinsAAT | CA891840664 | PTEN | c.73_75delinsAAT (p.Leu25Asn) c.592_594delinsAAT (p.Leu198Asn) n.75_77delinsAAT n.94_96delinsAAT c.-30_-28delinsAAT (n.-30_-28delinsAAT) n.42_44delinsAAT c.-633_-631delinsAAT (n.-633_-631delinsAAT) n.785_787delinsAAT | |
| 10 | g.87864542_87864544delinsACT | CA2579927149 | PTEN | c.73_75delinsACT (p.Leu25Thr) c.592_594delinsACT (p.Leu198Thr) n.75_77delinsACT n.94_96delinsACT c.-30_-28delinsACT (n.-30_-28delinsACT) n.42_44delinsACT c.-633_-631delinsACT (n.-633_-631delinsACT) n.785_787delinsACT | |
| 10 | g.87864542_87864544delinsAGA | CA2579927148 | PTEN | c.73_75delinsAGA (p.Leu25Arg) c.592_594delinsAGA (p.Leu198Arg) n.75_77delinsAGA n.94_96delinsAGA c.-30_-28delinsAGA (n.-30_-28delinsAGA) n.42_44delinsAGA c.-633_-631delinsAGA (n.-633_-631delinsAGA) n.785_787delinsAGA | |
| 10 | g.87864542_87864544delinsATT | CA891836334 | PTEN | c.73_75delinsATT (p.Leu25Ile) c.592_594delinsATT (p.Leu198Ile) n.75_77delinsATT n.94_96delinsATT c.-30_-28delinsATT (n.-30_-28delinsATT) n.42_44delinsATT c.-633_-631delinsATT (n.-633_-631delinsATT) n.785_787delinsATT | |
| 10 | g.87864542_87864544delinsCAA | CA891836331 | PTEN | c.73_75delinsCAA (p.Leu25Gln) c.592_594delinsCAA (p.Leu198Gln) n.75_77delinsCAA n.94_96delinsCAA c.-30_-28delinsCAA (n.-30_-28delinsCAA) n.42_44delinsCAA c.-633_-631delinsCAA (n.-633_-631delinsCAA) n.785_787delinsCAA | |
| 10 | g.87864542_87864544delinsCAT | CA891836325 | PTEN | c.73_75delinsCAT (p.Leu25His) c.592_594delinsCAT (p.Leu198His) n.75_77delinsCAT n.94_96delinsCAT c.-30_-28delinsCAT (n.-30_-28delinsCAT) n.42_44delinsCAT c.-633_-631delinsCAT (n.-633_-631delinsCAT) n.785_787delinsCAT | |
| 10 | g.87864542_87864544delinsCCA | CA891836328 | PTEN | c.73_75delinsCCA (p.Leu25Pro) c.592_594delinsCCA (p.Leu198Pro) n.75_77delinsCCA n.94_96delinsCCA c.-30_-28delinsCCA (n.-30_-28delinsCCA) n.42_44delinsCCA c.-633_-631delinsCCA (n.-633_-631delinsCCA) n.785_787delinsCCA | |
| 10 | g.87864542_87864544delinsGAA | CA2579927146 | PTEN | c.73_75delinsGAA (p.Leu25Glu) c.592_594delinsGAA (p.Leu198Glu) n.75_77delinsGAA n.94_96delinsGAA c.-30_-28delinsGAA (n.-30_-28delinsGAA) n.42_44delinsGAA c.-633_-631delinsGAA (n.-633_-631delinsGAA) n.785_787delinsGAA | |
| 10 | g.87864542_87864544delinsGAT | CA891836332 | PTEN | c.73_75delinsGAT (p.Leu25Asp) c.592_594delinsGAT (p.Leu198Asp) n.75_77delinsGAT n.94_96delinsGAT c.-30_-28delinsGAT (n.-30_-28delinsGAT) n.42_44delinsGAT c.-633_-631delinsGAT (n.-633_-631delinsGAT) n.785_787delinsGAT | |
| 10 | g.87864542_87864544delinsGCT | CA2579927229 | PTEN | c.73_75delinsGCT (p.Leu25Ala) c.592_594delinsGCT (p.Leu198Ala) n.75_77delinsGCT n.94_96delinsGCT c.-30_-28delinsGCT (n.-30_-28delinsGCT) n.42_44delinsGCT c.-633_-631delinsGCT (n.-633_-631delinsGCT) n.785_787delinsGCT | |
| 10 | g.87864542_87864544delinsGGT | CA891836330 | PTEN | c.73_75delinsGGT (p.Leu25Gly) c.592_594delinsGGT (p.Leu198Gly) n.75_77delinsGGT n.94_96delinsGGT c.-30_-28delinsGGT (n.-30_-28delinsGGT) n.42_44delinsGGT c.-633_-631delinsGGT (n.-633_-631delinsGGT) n.785_787delinsGGT | |
| 10 | g.87864542_87864544delinsGTT | CA891836336 | PTEN | c.73_75delinsGTT (p.Leu25Val) c.592_594delinsGTT (p.Leu198Val) n.75_77delinsGTT n.94_96delinsGTT c.-30_-28delinsGTT (n.-30_-28delinsGTT) n.42_44delinsGTT c.-633_-631delinsGTT (n.-633_-631delinsGTT) n.785_787delinsGTT | |
| 10 | g.87864542_87864544delinsTTG | CA891840670 | PTEN | c.73_75delinsTTG (p.Leu25=) c.592_594delinsTTG (p.Leu198=) n.75_77delinsTTG n.94_96delinsTTG c.-30_-28delinsTTG (n.-30_-28delinsTTG) n.42_44delinsTTG c.-633_-631delinsTTG (n.-633_-631delinsTTG) n.785_787delinsTTG | |
| 10 | g.87864543_87864544delinsAA | CA2579927144 | PTEN | c.74_75delinsAA (p.Leu25Ter) c.593_594delinsAA (p.Leu198Ter) n.76_77delinsAA n.95_96delinsAA c.-29_-28delinsAA (n.-29_-28delinsAA) n.43_44delinsAA c.-632_-631delinsAA (n.-632_-631delinsAA) n.786_787delinsAA | |
| 10 | g.87864543_87864544delinsAT | CA891840676 | PTEN | c.74_75delinsAT (p.Leu25Tyr) c.593_594delinsAT (p.Leu198Tyr) n.76_77delinsAT n.95_96delinsAT c.-29_-28delinsAT (n.-29_-28delinsAT) n.43_44delinsAT c.-632_-631delinsAT (n.-632_-631delinsAT) n.786_787delinsAT | |
| 10 | g.87864543_87864544delinsCT | CA2579927228 | PTEN | c.74_75delinsCT (p.Leu25Ser) c.593_594delinsCT (p.Leu198Ser) n.76_77delinsCT n.95_96delinsCT c.-29_-28delinsCT (n.-29_-28delinsCT) n.43_44delinsCT c.-632_-631delinsCT (n.-632_-631delinsCT) n.786_787delinsCT | |
| 10 | g.87864543_87864544delinsGT | CA891836340 | PTEN | c.74_75delinsGT (p.Leu25Cys) c.593_594delinsGT (p.Leu198Cys) n.76_77delinsGT n.95_96delinsGT c.-29_-28delinsGT (n.-29_-28delinsGT) n.43_44delinsGT c.-632_-631delinsGT (n.-632_-631delinsGT) n.786_787delinsGT | |
| 10 | g.87864545_87864549del | CA645558997 | PTEN | c.76_79+1del c.595_598+1del n.78_81+1del n.97_100+1del c.-27_-24+1del n.45_49del c.-630_-627+1del n.788_791+1del | dbSNP COSMIC |
| 10 | g.87864544G>A | CA000197 | PTEN | c.75G>A (p.Leu25=) c.594G>A (p.Leu198=) n.77G>A n.96G>A c.-28G>A (n.-28G>A) n.44G>A c.-631G>A (n.-631G>A) n.787G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87864544G>C | CA377782046 | PTEN | c.75G>C (p.Leu25Phe) c.594G>C (p.Leu198Phe) n.77G>C n.96G>C c.-28G>C (n.-28G>C) n.44G>C c.-631G>C (n.-631G>C) n.787G>C | ClinVar dbSNP COSMIC |
| 10 | g.87864544G= | CA1926143931 | PTEN | c.75G= (p.Leu25=) c.594G= (p.Leu198=) n.77G= n.96G= c.-28G= (n.-28G=) n.44G= c.-631G= (n.-631G=) n.787G= | |
| 10 | g.87864544G>T | CA377782047 | PTEN | c.75G>T (p.Leu25Phe) c.594G>T (p.Leu198Phe) n.77G>T n.96G>T c.-28G>T (n.-28G>T) n.44G>T c.-631G>T (n.-631G>T) n.787G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.87864544_87864545del | CA2695200950 | PTEN | c.75_76del (p.Leu25PhefsTer18) c.75_76del (p.Leu25PhefsTer5) c.75_76del (p.Leu25PhefsTer10) c.594_595del (p.Leu198PhefsTer18) n.77_78del n.96_97del c.-28_-27del (n.-28_-27del) n.44_45del c.-631_-630del (n.-631_-630del) n.787_788del | ClinVar |
| 10 | g.87864544_87864547del | CA645558998 | PTEN | c.75_78del (p.Leu25PhefsTer28) c.75_78del (p.Leu25PhefsTer13) c.75_78del (p.Leu25PhefsTer2) c.594_597del (p.Leu198PhefsTer28) n.77_80del n.96_99del c.-28_-25del (n.-28_-25del) n.44_47del c.-631_-628del (n.-631_-628del) n.787_790del | COSMIC |
| 10 | g.87864545A= | CA1926143932 | PTEN | c.76A= (p.Thr26=) c.595A= (p.Thr199=) n.78A= n.97A= c.-27A= (n.-27A=) n.45A= c.-630A= (n.-630A=) n.788A= | |
| 10 | g.87864545A>C | CA10577415 | PTEN | c.76A>C (p.Thr26Pro) c.595A>C (p.Thr199Pro) n.78A>C n.97A>C c.-27A>C (n.-27A>C) n.45A>C c.-630A>C (n.-630A>C) n.788A>C | ClinVar dbSNP COSMIC |
| 10 | g.87864545A>G | CA377782050 | PTEN | c.76A>G (p.Thr26Ala) c.595A>G (p.Thr199Ala) n.78A>G n.97A>G c.-27A>G (n.-27A>G) n.45A>G c.-630A>G (n.-630A>G) n.788A>G | gnomAD v4 COSMIC |
| 10 | g.87864545A>T | CA377782051 | PTEN | c.76A>T (p.Thr26Ser) c.595A>T (p.Thr199Ser) n.78A>T n.97A>T c.-27A>T (n.-27A>T) n.45A>T c.-630A>T (n.-630A>T) n.788A>T | dbSNP |
| 10 | g.87864545_87864546delinsCG | CA891840687 | PTEN | c.76_77delinsCG (p.Thr26Arg) c.595_596delinsCG (p.Thr199Arg) n.78_79delinsCG n.97_98delinsCG c.-27_-26delinsCG (n.-27_-26delinsCG) n.45_46delinsCG c.-630_-629delinsCG (n.-630_-629delinsCG) n.788_789delinsCG | |
| 10 | g.87864545_87864546delinsCT | CA891840701 | PTEN | c.76_77delinsCT (p.Thr26Leu) c.595_596delinsCT (p.Thr199Leu) n.78_79delinsCT n.97_98delinsCT c.-27_-26delinsCT (n.-27_-26delinsCT) n.45_46delinsCT c.-630_-629delinsCT (n.-630_-629delinsCT) n.788_789delinsCT | |
| 10 | g.87864545_87864546delinsGA | CA891840694 | PTEN | c.76_77delinsGA (p.Thr26Asp) c.595_596delinsGA (p.Thr199Asp) n.78_79delinsGA n.97_98delinsGA c.-27_-26delinsGA (n.-27_-26delinsGA) n.45_46delinsGA c.-630_-629delinsGA (n.-630_-629delinsGA) n.788_789delinsGA | |
| 10 | g.87864545_87864546delinsGG | CA891840691 | PTEN | c.76_77delinsGG (p.Thr26Gly) c.595_596delinsGG (p.Thr199Gly) n.78_79delinsGG n.97_98delinsGG c.-27_-26delinsGG (n.-27_-26delinsGG) n.45_46delinsGG c.-630_-629delinsGG (n.-630_-629delinsGG) n.788_789delinsGG | |
| 10 | g.87864545_87864546delinsGT | CA891840686 | PTEN | c.76_77delinsGT (p.Thr26Val) c.595_596delinsGT (p.Thr199Val) n.78_79delinsGT n.97_98delinsGT c.-27_-26delinsGT (n.-27_-26delinsGT) n.45_46delinsGT c.-630_-629delinsGT (n.-630_-629delinsGT) n.788_789delinsGT | |
| 10 | g.87864545_87864546delinsTG | CA891840698 | PTEN | c.76_77delinsTG (p.Thr26Cys) c.595_596delinsTG (p.Thr199Cys) n.78_79delinsTG n.97_98delinsTG c.-27_-26delinsTG (n.-27_-26delinsTG) n.45_46delinsTG c.-630_-629delinsTG (n.-630_-629delinsTG) n.788_789delinsTG | |
| 10 | g.87864545_87864547del | CA2579927140 | PTEN | c.76_78del (p.Thr26del) c.595_597del (p.Thr199del) n.78_80del n.97_99del c.-27_-25del (n.-27_-25del) n.45_47del c.-630_-628del (n.-630_-628del) n.788_790del | |
| 10 | g.87864545_87864547delinsCAA | CA891836363 | PTEN | c.76_78delinsCAA (p.Thr26Gln) c.595_597delinsCAA (p.Thr199Gln) n.78_80delinsCAA n.97_99delinsCAA c.-27_-25delinsCAA (n.-27_-25delinsCAA) n.45_47delinsCAA c.-630_-628delinsCAA (n.-630_-628delinsCAA) n.788_790delinsCAA | |
| 10 | g.87864545_87864547delinsCAT | CA891836359 | PTEN | c.76_78delinsCAT (p.Thr26His) c.595_597delinsCAT (p.Thr199His) n.78_80delinsCAT n.97_99delinsCAT c.-27_-25delinsCAT (n.-27_-25delinsCAT) n.45_47delinsCAT c.-630_-628delinsCAT (n.-630_-628delinsCAT) n.788_790delinsCAT | |
| 10 | g.87864545_87864547delinsCCA | CA891836360 | PTEN | c.76_78delinsCCA (p.Thr26Pro) c.595_597delinsCCA (p.Thr199Pro) n.78_80delinsCCA n.97_99delinsCCA c.-27_-25delinsCCA (n.-27_-25delinsCCA) n.45_47delinsCCA c.-630_-628delinsCCA (n.-630_-628delinsCCA) n.788_790delinsCCA | |
| 10 | g.87864545_87864547delinsGAA | CA891836357 | PTEN | c.76_78delinsGAA (p.Thr26Glu) c.595_597delinsGAA (p.Thr199Glu) n.78_80delinsGAA n.97_99delinsGAA c.-27_-25delinsGAA (n.-27_-25delinsGAA) n.45_47delinsGAA c.-630_-628delinsGAA (n.-630_-628delinsGAA) n.788_790delinsGAA | |
| 10 | g.87864545_87864547delinsGAT | CA891836358 | PTEN | c.76_78delinsGAT (p.Thr26Asp) c.595_597delinsGAT (p.Thr199Asp) n.78_80delinsGAT n.97_99delinsGAT c.-27_-25delinsGAT (n.-27_-25delinsGAT) n.45_47delinsGAT c.-630_-628delinsGAT (n.-630_-628delinsGAT) n.788_790delinsGAT | |
| 10 | g.87864545_87864547delinsGCT | CA891836373 | PTEN | c.76_78delinsGCT (p.Thr26Ala) c.595_597delinsGCT (p.Thr199Ala) n.78_80delinsGCT n.97_99delinsGCT c.-27_-25delinsGCT (n.-27_-25delinsGCT) n.45_47delinsGCT c.-630_-628delinsGCT (n.-630_-628delinsGCT) n.788_790delinsGCT | |
| 10 | g.87864545_87864547delinsGGT | CA891836361 | PTEN | c.76_78delinsGGT (p.Thr26Gly) c.595_597delinsGGT (p.Thr199Gly) n.78_80delinsGGT n.97_99delinsGGT c.-27_-25delinsGGT (n.-27_-25delinsGGT) n.45_47delinsGGT c.-630_-628delinsGGT (n.-630_-628delinsGGT) n.788_790delinsGGT | |
| 10 | g.87864545_87864547delinsGTT | CA891836356 | PTEN | c.76_78delinsGTT (p.Thr26Val) c.595_597delinsGTT (p.Thr199Val) n.78_80delinsGTT n.97_99delinsGTT c.-27_-25delinsGTT (n.-27_-25delinsGTT) n.45_47delinsGTT c.-630_-628delinsGTT (n.-630_-628delinsGTT) n.788_790delinsGTT | |
| 10 | g.87864545_87864547delinsTAA | CA891836355 | PTEN | c.76_78delinsTAA (p.Thr26Ter) c.595_597delinsTAA (p.Thr199Ter) n.78_80delinsTAA n.97_99delinsTAA c.-27_-25delinsTAA (n.-27_-25delinsTAA) n.45_47delinsTAA c.-630_-628delinsTAA (n.-630_-628delinsTAA) n.788_790delinsTAA |