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.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 |
| 19 | g.7128879C>T | CA403671719 | INSR | c.2918G>A (p.Gly973Glu) c.2882G>A (p.Gly961Glu) c.2993G>A (p.Gly998Glu) c.2957G>A (p.Gly986Glu) c.2915G>A (p.Gly972Glu) c.2879G>A (p.Gly960Glu) | |
| 19 | g.7128880C>A | CA403671720 | INSR | c.2917G>T (p.Gly973Ter) c.2881G>T (p.Gly961Ter) c.2992G>T (p.Gly998Ter) c.2956G>T (p.Gly986Ter) c.2914G>T (p.Gly972Ter) c.2878G>T (p.Gly960Ter) | |
| 19 | g.7128880C>G | CA403671721 | INSR | c.2917G>C (p.Gly973Arg) c.2881G>C (p.Gly961Arg) c.2992G>C (p.Gly998Arg) c.2956G>C (p.Gly986Arg) c.2914G>C (p.Gly972Arg) c.2878G>C (p.Gly960Arg) | |
| 19 | g.7128880C>T | CA403671722 | INSR | c.2917G>A (p.Gly973Arg) c.2881G>A (p.Gly961Arg) c.2992G>A (p.Gly998Arg) c.2956G>A (p.Gly986Arg) c.2914G>A (p.Gly972Arg) c.2878G>A (p.Gly960Arg) | gnomAD v4 |
| 19 | g.7128881A>C | CA403671723 | INSR | c.2916T>G (p.Ile972Met) c.2880T>G (p.Ile960Met) c.2991T>G (p.Ile997Met) c.2955T>G (p.Ile985Met) c.2913T>G (p.Ile971Met) c.2877T>G (p.Ile959Met) | |
| 19 | g.7128881A>G | CA505217377 | INSR | c.2916T>C (p.Ile972=) c.2880T>C (p.Ile960=) c.2991T>C (p.Ile997=) c.2955T>C (p.Ile985=) c.2913T>C (p.Ile971=) c.2877T>C (p.Ile959=) | |
| 19 | g.7128881A>T | CA505217378 | INSR | c.2916T>A (p.Ile972=) c.2880T>A (p.Ile960=) c.2991T>A (p.Ile997=) c.2955T>A (p.Ile985=) c.2913T>A (p.Ile971=) c.2877T>A (p.Ile959=) | |
| 19 | g.7128882A>C | CA403671724 | INSR | c.2915T>G (p.Ile972Ser) c.2879T>G (p.Ile960Ser) c.2990T>G (p.Ile997Ser) c.2954T>G (p.Ile985Ser) c.2912T>G (p.Ile971Ser) c.2876T>G (p.Ile959Ser) | |
| 19 | g.7128882A>G | CA403671725 | INSR | c.2915T>C (p.Ile972Thr) c.2879T>C (p.Ile960Thr) c.2990T>C (p.Ile997Thr) c.2954T>C (p.Ile985Thr) c.2912T>C (p.Ile971Thr) c.2876T>C (p.Ile959Thr) | gnomAD v4 |
| 19 | g.7128882A>T | CA403671726 | INSR | c.2915T>A (p.Ile972Asn) c.2879T>A (p.Ile960Asn) c.2990T>A (p.Ile997Asn) c.2954T>A (p.Ile985Asn) c.2912T>A (p.Ile971Asn) c.2876T>A (p.Ile959Asn) | |
| 19 | g.7128883T>A | CA403671727 | INSR | c.2914A>T (p.Ile972Phe) c.2878A>T (p.Ile960Phe) c.2989A>T (p.Ile997Phe) c.2953A>T (p.Ile985Phe) c.2911A>T (p.Ile971Phe) c.2875A>T (p.Ile959Phe) | |
| 19 | g.7128883T>C | CA403671728 | INSR | c.2914A>G (p.Ile972Val) c.2878A>G (p.Ile960Val) c.2989A>G (p.Ile997Val) c.2953A>G (p.Ile985Val) c.2911A>G (p.Ile971Val) c.2875A>G (p.Ile959Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7128883T>G | CA403671729 | INSR | c.2914A>C (p.Ile972Leu) c.2878A>C (p.Ile960Leu) c.2989A>C (p.Ile997Leu) c.2953A>C (p.Ile985Leu) c.2911A>C (p.Ile971Leu) c.2875A>C (p.Ile959Leu) | |
| 19 | g.7128883T= | CA2320769466 | INSR | c.2914A= (p.Ile972=) c.2878A= (p.Ile960=) c.2989A= (p.Ile997=) c.2953A= (p.Ile985=) c.2911A= (p.Ile971=) c.2875A= (p.Ile959=) | |
| 19 | g.7128884C>A | CA505217380 | INSR | c.2913G>T (p.Val971=) c.2877G>T (p.Val959=) c.2988G>T (p.Val996=) c.2952G>T (p.Val984=) c.2910G>T (p.Val970=) c.2874G>T (p.Val958=) | |
| 19 | g.7128884C>G | CA505217381 | INSR | c.2913G>C (p.Val971=) c.2877G>C (p.Val959=) c.2988G>C (p.Val996=) c.2952G>C (p.Val984=) c.2910G>C (p.Val970=) c.2874G>C (p.Val958=) | |
| 19 | g.7128884C>T | CA505217379 | INSR | c.2913G>A (p.Val971=) c.2877G>A (p.Val959=) c.2988G>A (p.Val996=) c.2952G>A (p.Val984=) c.2910G>A (p.Val970=) c.2874G>A (p.Val958=) | |
| 19 | g.7128885A= | CA2320769467 | INSR | c.2912T= (p.Val971=) c.2876T= (p.Val959=) c.2987T= (p.Val996=) c.2951T= (p.Val984=) c.2909T= (p.Val970=) c.2873T= (p.Val958=) | |
| 19 | g.7128885A>C | CA403671731 | INSR | c.2912T>G (p.Val971Gly) c.2876T>G (p.Val959Gly) c.2987T>G (p.Val996Gly) c.2951T>G (p.Val984Gly) c.2909T>G (p.Val970Gly) c.2873T>G (p.Val958Gly) | |
| 19 | g.7128885A>G | CA304876008 | INSR | c.2912T>C (p.Val971Ala) c.2876T>C (p.Val959Ala) c.2987T>C (p.Val996Ala) c.2951T>C (p.Val984Ala) c.2909T>C (p.Val970Ala) c.2873T>C (p.Val958Ala) | dbSNP |
| 19 | g.7128885A>T | CA403671730 | INSR | c.2912T>A (p.Val971Glu) c.2876T>A (p.Val959Glu) c.2987T>A (p.Val996Glu) c.2951T>A (p.Val984Glu) c.2909T>A (p.Val970Glu) c.2873T>A (p.Val958Glu) | |
| 19 | g.7128886C>A | CA403671732 | INSR | c.2911G>T (p.Val971Leu) c.2875G>T (p.Val959Leu) c.2986G>T (p.Val996Leu) c.2950G>T (p.Val984Leu) c.2908G>T (p.Val970Leu) c.2872G>T (p.Val958Leu) | |
| 19 | g.7128886C>G | CA403671734 | INSR | c.2911G>C (p.Val971Leu) c.2875G>C (p.Val959Leu) c.2986G>C (p.Val996Leu) c.2950G>C (p.Val984Leu) c.2908G>C (p.Val970Leu) c.2872G>C (p.Val958Leu) | |
| 19 | g.7128886C>T | CA403671733 | INSR | c.2911G>A (p.Val971Met) c.2875G>A (p.Val959Met) c.2986G>A (p.Val996Met) c.2950G>A (p.Val984Met) c.2908G>A (p.Val970Met) c.2872G>A (p.Val958Met) | gnomAD v4 |