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.7128864_7128868delinsAATAG | CA2320769461 | INSR | c.2929_2933delinsCTATT (p.Leu977=) c.2893_2897delinsCTATT (p.Leu965=) c.3004_3008delinsCTATT (p.Leu1002=) c.2968_2972delinsCTATT (p.Leu990=) c.2926_2930delinsCTATT (p.Leu976=) c.2890_2894delinsCTATT (p.Leu964=) | |
| 19 | g.7128865A>C | CA403671686 | INSR | c.2932T>G (p.Phe978Val) c.2896T>G (p.Phe966Val) c.3007T>G (p.Phe1003Val) c.2971T>G (p.Phe991Val) c.2929T>G (p.Phe977Val) c.2893T>G (p.Phe965Val) | |
| 19 | g.7128865A>G | CA403671688 | INSR | c.2932T>C (p.Phe978Leu) c.2896T>C (p.Phe966Leu) c.3007T>C (p.Phe1003Leu) c.2971T>C (p.Phe991Leu) c.2929T>C (p.Phe977Leu) c.2893T>C (p.Phe965Leu) | gnomAD v4 |
| 19 | g.7128865A>T | CA403671687 | INSR | c.2932T>A (p.Phe978Ile) c.2896T>A (p.Phe966Ile) c.3007T>A (p.Phe1003Ile) c.2971T>A (p.Phe991Ile) c.2929T>A (p.Phe977Ile) c.2893T>A (p.Phe965Ile) | |
| 19 | g.7128868_7128871del | CA658799110 | INSR | c.2929_2932del (p.Leu977SerfsTer2) c.2893_2896del (p.Leu965SerfsTer2) c.3004_3007del (p.Leu1002SerfsTer2) c.2968_2971del (p.Leu990SerfsTer2) c.2926_2929del (p.Leu976SerfsTer2) c.2890_2893del (p.Leu964SerfsTer2) | ClinVar dbSNP |
| 19 | g.7128866T>A | CA505217369 | INSR | c.2931A>T (p.Leu977=) c.2895A>T (p.Leu965=) c.3006A>T (p.Leu1002=) c.2970A>T (p.Leu990=) c.2928A>T (p.Leu976=) c.2892A>T (p.Leu964=) | |
| 19 | g.7128866T>C | CA505217368 | INSR | c.2931A>G (p.Leu977=) c.2895A>G (p.Leu965=) c.3006A>G (p.Leu1002=) c.2970A>G (p.Leu990=) c.2928A>G (p.Leu976=) c.2892A>G (p.Leu964=) | |
| 19 | g.7128866T>G | CA505217367 | INSR | c.2931A>C (p.Leu977=) c.2895A>C (p.Leu965=) c.3006A>C (p.Leu1002=) c.2970A>C (p.Leu990=) c.2928A>C (p.Leu976=) c.2892A>C (p.Leu964=) | |
| 19 | g.7128867A>C | CA403671689 | INSR | c.2930T>G (p.Leu977Arg) c.2894T>G (p.Leu965Arg) c.3005T>G (p.Leu1002Arg) c.2969T>G (p.Leu990Arg) c.2927T>G (p.Leu976Arg) c.2891T>G (p.Leu964Arg) | |
| 19 | g.7128867A>G | CA403671690 | INSR | c.2930T>C (p.Leu977Pro) c.2894T>C (p.Leu965Pro) c.3005T>C (p.Leu1002Pro) c.2969T>C (p.Leu990Pro) c.2927T>C (p.Leu976Pro) c.2891T>C (p.Leu964Pro) | |
| 19 | g.7128867A>T | CA403671691 | INSR | c.2930T>A (p.Leu977Gln) c.2894T>A (p.Leu965Gln) c.3005T>A (p.Leu1002Gln) c.2969T>A (p.Leu990Gln) c.2927T>A (p.Leu976Gln) c.2891T>A (p.Leu964Gln) | |
| 19 | g.7128868G>A | CA505217370 | INSR | c.2929C>T (p.Leu977=) c.2893C>T (p.Leu965=) c.3004C>T (p.Leu1002=) c.2968C>T (p.Leu990=) c.2926C>T (p.Leu976=) c.2890C>T (p.Leu964=) | |
| 19 | g.7128868G>C | CA403671692 | INSR | c.2929C>G (p.Leu977Val) c.2893C>G (p.Leu965Val) c.3004C>G (p.Leu1002Val) c.2968C>G (p.Leu990Val) c.2926C>G (p.Leu976Val) c.2890C>G (p.Leu964Val) | |
| 19 | g.7128868G>T | CA403671693 | INSR | c.2929C>A (p.Leu977Ile) c.2893C>A (p.Leu965Ile) c.3004C>A (p.Leu1002Ile) c.2968C>A (p.Leu990Ile) c.2926C>A (p.Leu976Ile) c.2890C>A (p.Leu964Ile) | |
| 19 | g.7128869A= | CA2320769462 | INSR | c.2928T= (p.Tyr976=) c.2892T= (p.Tyr964=) c.3003T= (p.Tyr1001=) c.2967T= (p.Tyr989=) c.2925T= (p.Tyr975=) c.2889T= (p.Tyr963=) | |
| 19 | g.7128869A>C | CA403671694 | INSR | c.2928T>G (p.Tyr976Ter) c.2892T>G (p.Tyr964Ter) c.3003T>G (p.Tyr1001Ter) c.2967T>G (p.Tyr989Ter) c.2925T>G (p.Tyr975Ter) c.2889T>G (p.Tyr963Ter) | |
| 19 | g.7128869A>G | CA505217371 | INSR | c.2928T>C (p.Tyr976=) c.2892T>C (p.Tyr964=) c.3003T>C (p.Tyr1001=) c.2967T>C (p.Tyr989=) c.2925T>C (p.Tyr975=) c.2889T>C (p.Tyr963=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7128869A>T | CA403671695 | INSR | c.2928T>A (p.Tyr976Ter) c.2892T>A (p.Tyr964Ter) c.3003T>A (p.Tyr1001Ter) c.2967T>A (p.Tyr989Ter) c.2925T>A (p.Tyr975Ter) c.2889T>A (p.Tyr963Ter) | |
| 19 | g.7128870T>A | CA403671696 | INSR | c.2927A>T (p.Tyr976Phe) c.2891A>T (p.Tyr964Phe) c.3002A>T (p.Tyr1001Phe) c.2966A>T (p.Tyr989Phe) c.2924A>T (p.Tyr975Phe) c.2888A>T (p.Tyr963Phe) | |
| 19 | g.7128870T>C | CA403671697 | INSR | c.2927A>G (p.Tyr976Cys) c.2891A>G (p.Tyr964Cys) c.3002A>G (p.Tyr1001Cys) c.2966A>G (p.Tyr989Cys) c.2924A>G (p.Tyr975Cys) c.2888A>G (p.Tyr963Cys) | |
| 19 | g.7128870T>G | CA403671698 | INSR | c.2927A>C (p.Tyr976Ser) c.2891A>C (p.Tyr964Ser) c.3002A>C (p.Tyr1001Ser) c.2966A>C (p.Tyr989Ser) c.2924A>C (p.Tyr975Ser) c.2888A>C (p.Tyr963Ser) | |
| 19 | g.7128871A>C | CA403671701 | INSR | c.2926T>G (p.Tyr976Asp) c.2890T>G (p.Tyr964Asp) c.3001T>G (p.Tyr1001Asp) c.2965T>G (p.Tyr989Asp) c.2923T>G (p.Tyr975Asp) c.2887T>G (p.Tyr963Asp) | |
| 19 | g.7128871A>G | CA403671700 | INSR | c.2926T>C (p.Tyr976His) c.2890T>C (p.Tyr964His) c.3001T>C (p.Tyr1001His) c.2965T>C (p.Tyr989His) c.2923T>C (p.Tyr975His) c.2887T>C (p.Tyr963His) | |
| 19 | g.7128871A>T | CA403671699 | INSR | c.2926T>A (p.Tyr976Asn) c.2890T>A (p.Tyr964Asn) c.3001T>A (p.Tyr1001Asn) c.2965T>A (p.Tyr989Asn) c.2923T>A (p.Tyr975Asn) c.2887T>A (p.Tyr963Asn) | |
| 19 | g.7128872A= | CA2320769463 | INSR | c.2925T= (p.Ile975=) c.2889T= (p.Ile963=) c.3000T= (p.Ile1000=) c.2964T= (p.Ile988=) c.2922T= (p.Ile974=) c.2886T= (p.Ile962=) | |
| 19 | g.7128872A>C | CA403671702 | INSR | c.2925T>G (p.Ile975Met) c.2889T>G (p.Ile963Met) c.3000T>G (p.Ile1000Met) c.2964T>G (p.Ile988Met) c.2922T>G (p.Ile974Met) c.2886T>G (p.Ile962Met) | dbSNP |
| 19 | g.7128872A>G | CA505217372 | INSR | c.2925T>C (p.Ile975=) c.2889T>C (p.Ile963=) c.3000T>C (p.Ile1000=) c.2964T>C (p.Ile988=) c.2922T>C (p.Ile974=) c.2886T>C (p.Ile962=) | |
| 19 | g.7128872A>T | CA9135418 | INSR | c.2925T>A (p.Ile975=) c.2889T>A (p.Ile963=) c.3000T>A (p.Ile1000=) c.2964T>A (p.Ile988=) c.2922T>A (p.Ile974=) c.2886T>A (p.Ile962=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7128873A>C | CA403671703 | INSR | c.2924T>G (p.Ile975Ser) c.2888T>G (p.Ile963Ser) c.2999T>G (p.Ile1000Ser) c.2963T>G (p.Ile988Ser) c.2921T>G (p.Ile974Ser) c.2885T>G (p.Ile962Ser) | |
| 19 | g.7128873A>G | CA403671704 | INSR | c.2924T>C (p.Ile975Thr) c.2888T>C (p.Ile963Thr) c.2999T>C (p.Ile1000Thr) c.2963T>C (p.Ile988Thr) c.2921T>C (p.Ile974Thr) c.2885T>C (p.Ile962Thr) | |
| 19 | g.7128873A>T | CA403671705 | INSR | c.2924T>A (p.Ile975Asn) c.2888T>A (p.Ile963Asn) c.2999T>A (p.Ile1000Asn) c.2963T>A (p.Ile988Asn) c.2921T>A (p.Ile974Asn) c.2885T>A (p.Ile962Asn) | |
| 19 | g.7128874T>A | CA403671706 | INSR | c.2923A>T (p.Ile975Phe) c.2887A>T (p.Ile963Phe) c.2998A>T (p.Ile1000Phe) c.2962A>T (p.Ile988Phe) c.2920A>T (p.Ile974Phe) c.2884A>T (p.Ile962Phe) | |
| 19 | g.7128874T>C | CA403671707 | INSR | c.2923A>G (p.Ile975Val) c.2887A>G (p.Ile963Val) c.2998A>G (p.Ile1000Val) c.2962A>G (p.Ile988Val) c.2920A>G (p.Ile974Val) c.2884A>G (p.Ile962Val) | dbSNP |
| 19 | g.7128874T>G | CA403671708 | INSR | c.2923A>C (p.Ile975Leu) c.2887A>C (p.Ile963Leu) c.2998A>C (p.Ile1000Leu) c.2962A>C (p.Ile988Leu) c.2920A>C (p.Ile974Leu) c.2884A>C (p.Ile962Leu) | |
| 19 | g.7128874T= | CA2320769464 | INSR | c.2923A= (p.Ile975=) c.2887A= (p.Ile963=) c.2998A= (p.Ile1000=) c.2962A= (p.Ile988=) c.2920A= (p.Ile974=) c.2884A= (p.Ile962=) | |
| 19 | g.7128875A>C | CA403671709 | INSR | c.2922T>G (p.Ser974Arg) c.2886T>G (p.Ser962Arg) c.2997T>G (p.Ser999Arg) c.2961T>G (p.Ser987Arg) c.2919T>G (p.Ser973Arg) c.2883T>G (p.Ser961Arg) | |
| 19 | g.7128875A>G | CA505217373 | INSR | c.2922T>C (p.Ser974=) c.2886T>C (p.Ser962=) c.2997T>C (p.Ser999=) c.2961T>C (p.Ser987=) c.2919T>C (p.Ser973=) c.2883T>C (p.Ser961=) | |
| 19 | g.7128875A>T | CA403671710 | INSR | c.2922T>A (p.Ser974Arg) c.2886T>A (p.Ser962Arg) c.2997T>A (p.Ser999Arg) c.2961T>A (p.Ser987Arg) c.2919T>A (p.Ser973Arg) c.2883T>A (p.Ser961Arg) | |
| 19 | g.7128876C>A | CA403671711 | INSR | c.2921G>T (p.Ser974Ile) c.2885G>T (p.Ser962Ile) c.2996G>T (p.Ser999Ile) c.2960G>T (p.Ser987Ile) c.2918G>T (p.Ser973Ile) c.2882G>T (p.Ser961Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7128876C= | CA2320769465 | INSR | c.2921G= (p.Ser974=) c.2885G= (p.Ser962=) c.2996G= (p.Ser999=) c.2960G= (p.Ser987=) c.2918G= (p.Ser973=) c.2882G= (p.Ser961=) | |
| 19 | g.7128876C>G | CA403671712 | INSR | c.2921G>C (p.Ser974Thr) c.2885G>C (p.Ser962Thr) c.2996G>C (p.Ser999Thr) c.2960G>C (p.Ser987Thr) c.2918G>C (p.Ser973Thr) c.2882G>C (p.Ser961Thr) | |
| 19 | g.7128876C>T | CA403671713 | INSR | c.2921G>A (p.Ser974Asn) c.2885G>A (p.Ser962Asn) c.2996G>A (p.Ser999Asn) c.2960G>A (p.Ser987Asn) c.2918G>A (p.Ser973Asn) c.2882G>A (p.Ser961Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7128877T>A | CA403671716 | INSR | c.2920A>T (p.Ser974Cys) c.2884A>T (p.Ser962Cys) c.2995A>T (p.Ser999Cys) c.2959A>T (p.Ser987Cys) c.2917A>T (p.Ser973Cys) c.2881A>T (p.Ser961Cys) | |
| 19 | g.7128877T>C | CA403671715 | INSR | c.2920A>G (p.Ser974Gly) c.2884A>G (p.Ser962Gly) c.2995A>G (p.Ser999Gly) c.2959A>G (p.Ser987Gly) c.2917A>G (p.Ser973Gly) c.2881A>G (p.Ser961Gly) | |
| 19 | g.7128877T>G | CA403671714 | INSR | c.2920A>C (p.Ser974Arg) c.2884A>C (p.Ser962Arg) c.2995A>C (p.Ser999Arg) c.2959A>C (p.Ser987Arg) c.2917A>C (p.Ser973Arg) c.2881A>C (p.Ser961Arg) | |
| 19 | g.7128878T>A | CA505217375 | INSR | c.2919A>T (p.Gly973=) c.2883A>T (p.Gly961=) c.2994A>T (p.Gly998=) c.2958A>T (p.Gly986=) c.2916A>T (p.Gly972=) c.2880A>T (p.Gly960=) | |
| 19 | g.7128878T>C | CA505217374 | INSR | c.2919A>G (p.Gly973=) c.2883A>G (p.Gly961=) c.2994A>G (p.Gly998=) c.2958A>G (p.Gly986=) c.2916A>G (p.Gly972=) c.2880A>G (p.Gly960=) | |
| 19 | g.7128878T>G | CA505217376 | INSR | c.2919A>C (p.Gly973=) c.2883A>C (p.Gly961=) c.2994A>C (p.Gly998=) c.2958A>C (p.Gly986=) c.2916A>C (p.Gly972=) c.2880A>C (p.Gly960=) | |
| 19 | g.7128879C>A | CA403671717 | INSR | c.2918G>T (p.Gly973Val) c.2882G>T (p.Gly961Val) c.2993G>T (p.Gly998Val) c.2957G>T (p.Gly986Val) c.2915G>T (p.Gly972Val) c.2879G>T (p.Gly960Val) | |
| 19 | g.7128879C>G | CA403671718 | INSR | c.2918G>C (p.Gly973Ala) c.2882G>C (p.Gly961Ala) c.2993G>C (p.Gly998Ala) c.2957G>C (p.Gly986Ala) c.2915G>C (p.Gly972Ala) c.2879G>C (p.Gly960Ala) | gnomAD v4 |