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 |
|---|---|---|---|---|---|
| 19 | g.7128894A>C | CA403671751 | INSR | c.2903T>G (p.Phe968Cys) c.2867T>G (p.Phe956Cys) c.2978T>G (p.Phe993Cys) c.2942T>G (p.Phe981Cys) c.2900T>G (p.Phe967Cys) c.2864T>G (p.Phe955Cys) | |
| 19 | g.7128894A>G | CA403671752 | INSR | c.2903T>C (p.Phe968Ser) c.2867T>C (p.Phe956Ser) c.2978T>C (p.Phe993Ser) c.2942T>C (p.Phe981Ser) c.2900T>C (p.Phe967Ser) c.2864T>C (p.Phe955Ser) | |
| 19 | g.7128894A>T | CA403671753 | INSR | c.2903T>A (p.Phe968Tyr) c.2867T>A (p.Phe956Tyr) c.2978T>A (p.Phe993Tyr) c.2942T>A (p.Phe981Tyr) c.2900T>A (p.Phe967Tyr) c.2864T>A (p.Phe955Tyr) | |
| 19 | g.7128895A>C | CA403671754 | INSR | c.2902T>G (p.Phe968Val) c.2866T>G (p.Phe956Val) c.2977T>G (p.Phe993Val) c.2941T>G (p.Phe981Val) c.2899T>G (p.Phe967Val) c.2863T>G (p.Phe955Val) | |
| 19 | g.7128895A>G | CA403671755 | INSR | c.2902T>C (p.Phe968Leu) c.2866T>C (p.Phe956Leu) c.2977T>C (p.Phe993Leu) c.2941T>C (p.Phe981Leu) c.2899T>C (p.Phe967Leu) c.2863T>C (p.Phe955Leu) | |
| 19 | g.7128895A>T | CA403671756 | INSR | c.2902T>A (p.Phe968Ile) c.2866T>A (p.Phe956Ile) c.2977T>A (p.Phe993Ile) c.2941T>A (p.Phe981Ile) c.2899T>A (p.Phe967Ile) c.2863T>A (p.Phe955Ile) | |
| 19 | g.7128896G>A | CA505217389 | INSR | c.2901C>T (p.Leu967=) c.2865C>T (p.Leu955=) c.2976C>T (p.Leu992=) c.2940C>T (p.Leu980=) c.2898C>T (p.Leu966=) c.2862C>T (p.Leu954=) | ClinVar |
| 19 | g.7128896G>C | CA505217390 | INSR | c.2901C>G (p.Leu967=) c.2865C>G (p.Leu955=) c.2976C>G (p.Leu992=) c.2940C>G (p.Leu980=) c.2898C>G (p.Leu966=) c.2862C>G (p.Leu954=) | |
| 19 | g.7128896G>T | CA505217391 | INSR | c.2901C>A (p.Leu967=) c.2865C>A (p.Leu955=) c.2976C>A (p.Leu992=) c.2940C>A (p.Leu980=) c.2898C>A (p.Leu966=) c.2862C>A (p.Leu954=) | |
| 19 | g.7128897A>C | CA403671757 | INSR | c.2900T>G (p.Leu967Arg) c.2864T>G (p.Leu955Arg) c.2975T>G (p.Leu992Arg) c.2939T>G (p.Leu980Arg) c.2897T>G (p.Leu966Arg) c.2861T>G (p.Leu954Arg) | |
| 19 | g.7128897A>G | CA403671758 | INSR | c.2900T>C (p.Leu967Pro) c.2864T>C (p.Leu955Pro) c.2975T>C (p.Leu992Pro) c.2939T>C (p.Leu980Pro) c.2897T>C (p.Leu966Pro) c.2861T>C (p.Leu954Pro) | |
| 19 | g.7128897A>T | CA403671759 | INSR | c.2900T>A (p.Leu967His) c.2864T>A (p.Leu955His) c.2975T>A (p.Leu992His) c.2939T>A (p.Leu980His) c.2897T>A (p.Leu966His) c.2861T>A (p.Leu954His) | |
| 19 | g.7128898G>A | CA403671762 | INSR | c.2899C>T (p.Leu967Phe) c.2863C>T (p.Leu955Phe) c.2974C>T (p.Leu992Phe) c.2938C>T (p.Leu980Phe) c.2896C>T (p.Leu966Phe) c.2860C>T (p.Leu954Phe) | |
| 19 | g.7128898G>C | CA403671761 | INSR | c.2899C>G (p.Leu967Val) c.2863C>G (p.Leu955Val) c.2974C>G (p.Leu992Val) c.2938C>G (p.Leu980Val) c.2896C>G (p.Leu966Val) c.2860C>G (p.Leu954Val) | |
| 19 | g.7128898G>T | CA403671760 | INSR | c.2899C>A (p.Leu967Ile) c.2863C>A (p.Leu955Ile) c.2974C>A (p.Leu992Ile) c.2938C>A (p.Leu980Ile) c.2896C>A (p.Leu966Ile) c.2860C>A (p.Leu954Ile) | COSMIC COSMIC |
| 19 | g.7128899A>C | CA403671763 | INSR | c.2898T>G (p.Phe966Leu) c.2862T>G (p.Phe954Leu) c.2973T>G (p.Phe991Leu) c.2937T>G (p.Phe979Leu) c.2895T>G (p.Phe965Leu) c.2859T>G (p.Phe953Leu) | |
| 19 | g.7128899A>G | CA505217392 | INSR | c.2898T>C (p.Phe966=) c.2862T>C (p.Phe954=) c.2973T>C (p.Phe991=) c.2937T>C (p.Phe979=) c.2895T>C (p.Phe965=) c.2859T>C (p.Phe953=) | |
| 19 | g.7128899A>T | CA403671764 | INSR | c.2898T>A (p.Phe966Leu) c.2862T>A (p.Phe954Leu) c.2973T>A (p.Phe991Leu) c.2937T>A (p.Phe979Leu) c.2895T>A (p.Phe965Leu) c.2859T>A (p.Phe953Leu) | |
| 19 | g.7128900A>C | CA403671765 | INSR | c.2897T>G (p.Phe966Cys) c.2861T>G (p.Phe954Cys) c.2972T>G (p.Phe991Cys) c.2936T>G (p.Phe979Cys) c.2894T>G (p.Phe965Cys) c.2858T>G (p.Phe953Cys) | |
| 19 | g.7128900A>G | CA403671766 | INSR | c.2897T>C (p.Phe966Ser) c.2861T>C (p.Phe954Ser) c.2972T>C (p.Phe991Ser) c.2936T>C (p.Phe979Ser) c.2894T>C (p.Phe965Ser) c.2858T>C (p.Phe953Ser) | |
| 19 | g.7128900A>T | CA403671767 | INSR | c.2897T>A (p.Phe966Tyr) c.2861T>A (p.Phe954Tyr) c.2972T>A (p.Phe991Tyr) c.2936T>A (p.Phe979Tyr) c.2894T>A (p.Phe965Tyr) c.2858T>A (p.Phe953Tyr) | |
| 19 | g.7128901A= | CA2320769469 | INSR | c.2896T= (p.Phe966=) c.2860T= (p.Phe954=) c.2971T= (p.Phe991=) c.2935T= (p.Phe979=) c.2893T= (p.Phe965=) c.2857T= (p.Phe953=) | |
| 19 | g.7128901A>C | CA403671768 | INSR | c.2896T>G (p.Phe966Val) c.2860T>G (p.Phe954Val) c.2971T>G (p.Phe991Val) c.2935T>G (p.Phe979Val) c.2893T>G (p.Phe965Val) c.2857T>G (p.Phe953Val) | |
| 19 | g.7128901A>G | CA403671769 | INSR | c.2896T>C (p.Phe966Leu) c.2860T>C (p.Phe954Leu) c.2971T>C (p.Phe991Leu) c.2935T>C (p.Phe979Leu) c.2893T>C (p.Phe965Leu) c.2857T>C (p.Phe953Leu) | gnomAD v4 |
| 19 | g.7128901A>T | CA304876031 | INSR | c.2896T>A (p.Phe966Ile) c.2860T>A (p.Phe954Ile) c.2971T>A (p.Phe991Ile) c.2935T>A (p.Phe979Ile) c.2893T>A (p.Phe965Ile) c.2857T>A (p.Phe953Ile) | dbSNP |
| 19 | g.7128902G>A | CA505217393 | INSR | c.2895C>T (p.Val965=) c.2859C>T (p.Val953=) c.2970C>T (p.Val990=) c.2934C>T (p.Val978=) c.2892C>T (p.Val964=) c.2856C>T (p.Val952=) | |
| 19 | g.7128902G>C | CA505217394 | INSR | c.2895C>G (p.Val965=) c.2859C>G (p.Val953=) c.2970C>G (p.Val990=) c.2934C>G (p.Val978=) c.2892C>G (p.Val964=) c.2856C>G (p.Val952=) | |
| 19 | g.7128902G>T | CA505217395 | INSR | c.2895C>A (p.Val965=) c.2859C>A (p.Val953=) c.2970C>A (p.Val990=) c.2934C>A (p.Val978=) c.2892C>A (p.Val964=) c.2856C>A (p.Val952=) | COSMIC COSMIC |
| 19 | g.7128903A>C | CA403671770 | INSR | c.2894T>G (p.Val965Gly) c.2858T>G (p.Val953Gly) c.2969T>G (p.Val990Gly) c.2933T>G (p.Val978Gly) c.2891T>G (p.Val964Gly) c.2855T>G (p.Val952Gly) | |
| 19 | g.7128903A>G | CA403671771 | INSR | c.2894T>C (p.Val965Ala) c.2858T>C (p.Val953Ala) c.2969T>C (p.Val990Ala) c.2933T>C (p.Val978Ala) c.2891T>C (p.Val964Ala) c.2855T>C (p.Val952Ala) | |
| 19 | g.7128903A>T | CA403671772 | INSR | c.2894T>A (p.Val965Asp) c.2858T>A (p.Val953Asp) c.2969T>A (p.Val990Asp) c.2933T>A (p.Val978Asp) c.2891T>A (p.Val964Asp) c.2855T>A (p.Val952Asp) | |
| 19 | g.7128904C>A | CA403671775 | INSR | c.2893G>T (p.Val965Phe) c.2857G>T (p.Val953Phe) c.2968G>T (p.Val990Phe) c.2932G>T (p.Val978Phe) c.2890G>T (p.Val964Phe) c.2854G>T (p.Val952Phe) | |
| 19 | g.7128904C= | CA2320769470 | INSR | c.2893G= (p.Val965=) c.2857G= (p.Val953=) c.2968G= (p.Val990=) c.2932G= (p.Val978=) c.2890G= (p.Val964=) c.2854G= (p.Val952=) | |
| 19 | g.7128904C>G | CA403671774 | INSR | c.2893G>C (p.Val965Leu) c.2857G>C (p.Val953Leu) c.2968G>C (p.Val990Leu) c.2932G>C (p.Val978Leu) c.2890G>C (p.Val964Leu) c.2854G>C (p.Val952Leu) | |
| 19 | g.7128904C>T | CA403671773 | INSR | c.2893G>A (p.Val965Ile) c.2857G>A (p.Val953Ile) c.2968G>A (p.Val990Ile) c.2932G>A (p.Val978Ile) c.2890G>A (p.Val964Ile) c.2854G>A (p.Val952Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7128905A>C | CA403671776 | INSR | c.2892T>G (p.Phe964Leu) c.2856T>G (p.Phe952Leu) c.2967T>G (p.Phe989Leu) c.2931T>G (p.Phe977Leu) c.2889T>G (p.Phe963Leu) c.2853T>G (p.Phe951Leu) | |
| 19 | g.7128905A>G | CA505217397 | INSR | c.2892T>C (p.Phe964=) c.2856T>C (p.Phe952=) c.2967T>C (p.Phe989=) c.2931T>C (p.Phe977=) c.2889T>C (p.Phe963=) c.2853T>C (p.Phe951=) | |
| 19 | g.7128905A>T | CA403671777 | INSR | c.2892T>A (p.Phe964Leu) c.2856T>A (p.Phe952Leu) c.2967T>A (p.Phe989Leu) c.2931T>A (p.Phe977Leu) c.2889T>A (p.Phe963Leu) c.2853T>A (p.Phe951Leu) | |
| 19 | g.7128906A>C | CA403671778 | INSR | c.2891T>G (p.Phe964Cys) c.2855T>G (p.Phe952Cys) c.2966T>G (p.Phe989Cys) c.2930T>G (p.Phe977Cys) c.2888T>G (p.Phe963Cys) c.2852T>G (p.Phe951Cys) | |
| 19 | g.7128906A>G | CA403671779 | INSR | c.2891T>C (p.Phe964Ser) c.2855T>C (p.Phe952Ser) c.2966T>C (p.Phe989Ser) c.2930T>C (p.Phe977Ser) c.2888T>C (p.Phe963Ser) c.2852T>C (p.Phe951Ser) | |
| 19 | g.7128906A>T | CA403671780 | INSR | c.2891T>A (p.Phe964Tyr) c.2855T>A (p.Phe952Tyr) c.2966T>A (p.Phe989Tyr) c.2930T>A (p.Phe977Tyr) c.2888T>A (p.Phe963Tyr) c.2852T>A (p.Phe951Tyr) | |
| 19 | g.7128907A>C | CA403671781 | INSR | c.2890T>G (p.Phe964Val) c.2854T>G (p.Phe952Val) c.2965T>G (p.Phe989Val) c.2929T>G (p.Phe977Val) c.2887T>G (p.Phe963Val) c.2851T>G (p.Phe951Val) | |
| 19 | g.7128907A>G | CA403671782 | INSR | c.2890T>C (p.Phe964Leu) c.2854T>C (p.Phe952Leu) c.2965T>C (p.Phe989Leu) c.2929T>C (p.Phe977Leu) c.2887T>C (p.Phe963Leu) c.2851T>C (p.Phe951Leu) | |
| 19 | g.7128907A>T | CA403671783 | INSR | c.2890T>A (p.Phe964Ile) c.2854T>A (p.Phe952Ile) c.2965T>A (p.Phe989Ile) c.2929T>A (p.Phe977Ile) c.2887T>A (p.Phe963Ile) c.2851T>A (p.Phe951Ile) | |
| 19 | g.7128908G>A | CA9135419 | INSR | c.2889C>T (p.Ile963=) c.2853C>T (p.Ile951=) c.2964C>T (p.Ile988=) c.2928C>T (p.Ile976=) c.2886C>T (p.Ile962=) c.2850C>T (p.Ile950=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7128908G>C | CA403671784 | INSR | c.2889C>G (p.Ile963Met) c.2853C>G (p.Ile951Met) c.2964C>G (p.Ile988Met) c.2928C>G (p.Ile976Met) c.2886C>G (p.Ile962Met) c.2850C>G (p.Ile950Met) | |
| 19 | g.7128908G= | CA2320769471 | INSR | c.2889C= (p.Ile963=) c.2853C= (p.Ile951=) c.2964C= (p.Ile988=) c.2928C= (p.Ile976=) c.2886C= (p.Ile962=) c.2850C= (p.Ile950=) | |
| 19 | g.7128908G>T | CA505217398 | INSR | c.2889C>A (p.Ile963=) c.2853C>A (p.Ile951=) c.2964C>A (p.Ile988=) c.2928C>A (p.Ile976=) c.2886C>A (p.Ile962=) c.2850C>A (p.Ile950=) | |
| 19 | g.7128909A= | CA2320769472 | INSR | c.2888T= (p.Ile963=) c.2852T= (p.Ile951=) c.2963T= (p.Ile988=) c.2927T= (p.Ile976=) c.2885T= (p.Ile962=) c.2849T= (p.Ile950=) | |
| 19 | g.7128909A>C | CA403671785 | INSR | c.2888T>G (p.Ile963Ser) c.2852T>G (p.Ile951Ser) c.2963T>G (p.Ile988Ser) c.2927T>G (p.Ile976Ser) c.2885T>G (p.Ile962Ser) c.2849T>G (p.Ile950Ser) | dbSNP gnomAD v3 gnomAD v4 |