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.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 |
| 19 | g.7128887A>C | CA505217384 | INSR | c.2910T>G (p.Val970=) c.2874T>G (p.Val958=) c.2985T>G (p.Val995=) c.2949T>G (p.Val983=) c.2907T>G (p.Val969=) c.2871T>G (p.Val957=) | |
| 19 | g.7128887A>G | CA505217385 | INSR | c.2910T>C (p.Val970=) c.2874T>C (p.Val958=) c.2985T>C (p.Val995=) c.2949T>C (p.Val983=) c.2907T>C (p.Val969=) c.2871T>C (p.Val957=) | |
| 19 | g.7128887A>T | CA505217386 | INSR | c.2910T>A (p.Val970=) c.2874T>A (p.Val958=) c.2985T>A (p.Val995=) c.2949T>A (p.Val983=) c.2907T>A (p.Val969=) c.2871T>A (p.Val957=) | |
| 19 | g.7128888A>C | CA403671735 | INSR | c.2909T>G (p.Val970Gly) c.2873T>G (p.Val958Gly) c.2984T>G (p.Val995Gly) c.2948T>G (p.Val983Gly) c.2906T>G (p.Val969Gly) c.2870T>G (p.Val957Gly) | |
| 19 | g.7128888A>G | CA403671736 | INSR | c.2909T>C (p.Val970Ala) c.2873T>C (p.Val958Ala) c.2984T>C (p.Val995Ala) c.2948T>C (p.Val983Ala) c.2906T>C (p.Val969Ala) c.2870T>C (p.Val957Ala) | |
| 19 | g.7128888A>T | CA403671737 | INSR | c.2909T>A (p.Val970Asp) c.2873T>A (p.Val958Asp) c.2984T>A (p.Val995Asp) c.2948T>A (p.Val983Asp) c.2906T>A (p.Val969Asp) c.2870T>A (p.Val957Asp) | |
| 19 | g.7128889C>A | CA403671738 | INSR | c.2908G>T (p.Val970Phe) c.2872G>T (p.Val958Phe) c.2983G>T (p.Val995Phe) c.2947G>T (p.Val983Phe) c.2905G>T (p.Val969Phe) c.2869G>T (p.Val957Phe) | dbSNP gnomAD v2 |
| 19 | g.7128889C= | CA2320769468 | INSR | c.2908G= (p.Val970=) c.2872G= (p.Val958=) c.2983G= (p.Val995=) c.2947G= (p.Val983=) c.2905G= (p.Val969=) c.2869G= (p.Val957=) | |
| 19 | g.7128889C>G | CA403671739 | INSR | c.2908G>C (p.Val970Leu) c.2872G>C (p.Val958Leu) c.2983G>C (p.Val995Leu) c.2947G>C (p.Val983Leu) c.2905G>C (p.Val969Leu) c.2869G>C (p.Val957Leu) | |
| 19 | g.7128889C>T | CA403671740 | INSR | c.2908G>A (p.Val970Ile) c.2872G>A (p.Val958Ile) c.2983G>A (p.Val995Ile) c.2947G>A (p.Val983Ile) c.2905G>A (p.Val969Ile) c.2869G>A (p.Val957Ile) | |
| 19 | g.7128890A>C | CA403671741 | INSR | c.2907T>G (p.Ser969Arg) c.2871T>G (p.Ser957Arg) c.2982T>G (p.Ser994Arg) c.2946T>G (p.Ser982Arg) c.2904T>G (p.Ser968Arg) c.2868T>G (p.Ser956Arg) |