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.7141693C>A | CA403661615 | INSR | c.2666G>T (p.Arg889Leu) c.2630G>T (p.Arg877Leu) n.349G>T c.2744G>T (p.Arg915Leu) c.2708G>T (p.Arg903Leu) | |
| 19 | g.7141693C= | CA2320775556 | INSR | c.2666G= (p.Arg889=) c.2630G= (p.Arg877=) n.349G= c.2744G= (p.Arg915=) c.2708G= (p.Arg903=) | |
| 19 | g.7141693C>G | CA403661617 | INSR | c.2666G>C (p.Arg889Pro) c.2630G>C (p.Arg877Pro) n.349G>C c.2744G>C (p.Arg915Pro) c.2708G>C (p.Arg903Pro) | |
| 19 | g.7141693C>T | CA9135495 | INSR | c.2666G>A (p.Arg889Gln) c.2630G>A (p.Arg877Gln) n.349G>A c.2744G>A (p.Arg915Gln) c.2708G>A (p.Arg903Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7141694G>A | CA9135496 | INSR | c.2665C>T (p.Arg889Trp) c.2629C>T (p.Arg877Trp) n.348C>T c.2743C>T (p.Arg915Trp) c.2707C>T (p.Arg903Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7141694G>C | CA403661620 | INSR | c.2665C>G (p.Arg889Gly) c.2629C>G (p.Arg877Gly) n.348C>G c.2743C>G (p.Arg915Gly) c.2707C>G (p.Arg903Gly) | |
| 19 | g.7141694G= | CA2320775557 | INSR | c.2665C= (p.Arg889=) c.2629C= (p.Arg877=) n.348C= c.2743C= (p.Arg915=) c.2707C= (p.Arg903=) | |
| 19 | g.7141694G>T | CA505193469 | INSR | c.2665C>A (p.Arg889=) c.2629C>A (p.Arg877=) n.348C>A c.2743C>A (p.Arg915=) c.2707C>A (p.Arg903=) | gnomAD v4 |
| 19 | g.7141695A= | CA2320775558 | INSR | c.2664T= (p.Tyr888=) c.2628T= (p.Tyr876=) n.347T= c.2742T= (p.Tyr914=) c.2706T= (p.Tyr902=) | |
| 19 | g.7141695A>C | CA403661623 | INSR | c.2664T>G (p.Tyr888Ter) c.2628T>G (p.Tyr876Ter) n.347T>G c.2742T>G (p.Tyr914Ter) c.2706T>G (p.Tyr902Ter) | |
| 19 | g.7141695A>G | CA505193472 | INSR | c.2664T>C (p.Tyr888=) c.2628T>C (p.Tyr876=) n.347T>C c.2742T>C (p.Tyr914=) c.2706T>C (p.Tyr902=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7141695A>T | CA403661624 | INSR | c.2664T>A (p.Tyr888Ter) c.2628T>A (p.Tyr876Ter) n.347T>A c.2742T>A (p.Tyr914Ter) c.2706T>A (p.Tyr902Ter) | |
| 19 | g.7141696T>A | CA403661627 | INSR | c.2663A>T (p.Tyr888Phe) c.2627A>T (p.Tyr876Phe) n.346A>T c.2741A>T (p.Tyr914Phe) c.2705A>T (p.Tyr902Phe) | |
| 19 | g.7141696T>C | CA403661628 | INSR | c.2663A>G (p.Tyr888Cys) c.2627A>G (p.Tyr876Cys) n.346A>G c.2741A>G (p.Tyr914Cys) c.2705A>G (p.Tyr902Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7141696T>G | CA403661630 | INSR | c.2663A>C (p.Tyr888Ser) c.2627A>C (p.Tyr876Ser) n.346A>C c.2741A>C (p.Tyr914Ser) c.2705A>C (p.Tyr902Ser) | |
| 19 | g.7141696T= | CA2320775559 | INSR | c.2663A= (p.Tyr888=) c.2627A= (p.Tyr876=) n.346A= c.2741A= (p.Tyr914=) c.2705A= (p.Tyr902=) | |
| 19 | g.7141697A>C | CA403661636 | INSR | c.2662T>G (p.Tyr888Asp) c.2626T>G (p.Tyr876Asp) n.345T>G c.2740T>G (p.Tyr914Asp) c.2704T>G (p.Tyr902Asp) | |
| 19 | g.7141697A>G | CA403661634 | INSR | c.2662T>C (p.Tyr888His) c.2626T>C (p.Tyr876His) n.345T>C c.2740T>C (p.Tyr914His) c.2704T>C (p.Tyr902His) | |
| 19 | g.7141697A>T | CA403661633 | INSR | c.2662T>A (p.Tyr888Asn) c.2626T>A (p.Tyr876Asn) n.345T>A c.2740T>A (p.Tyr914Asn) c.2704T>A (p.Tyr902Asn) | |
| 19 | g.7141698A>C | CA403661638 | INSR | c.2661T>G (p.Ser887Arg) c.2625T>G (p.Ser875Arg) n.344T>G c.2739T>G (p.Ser913Arg) c.2703T>G (p.Ser901Arg) | |
| 19 | g.7141698A>G | CA505193473 | INSR | c.2661T>C (p.Ser887=) c.2625T>C (p.Ser875=) n.344T>C c.2739T>C (p.Ser913=) c.2703T>C (p.Ser901=) | |
| 19 | g.7141698A>T | CA403661640 | INSR | c.2661T>A (p.Ser887Arg) c.2625T>A (p.Ser875Arg) n.344T>A c.2739T>A (p.Ser913Arg) c.2703T>A (p.Ser901Arg) | |
| 19 | g.7141699C>A | CA403661643 | INSR | c.2660G>T (p.Ser887Ile) c.2624G>T (p.Ser875Ile) n.343G>T c.2738G>T (p.Ser913Ile) c.2702G>T (p.Ser901Ile) | |
| 19 | g.7141699C>G | CA403661644 | INSR | c.2660G>C (p.Ser887Thr) c.2624G>C (p.Ser875Thr) n.343G>C c.2738G>C (p.Ser913Thr) c.2702G>C (p.Ser901Thr) | |
| 19 | g.7141699C>T | CA403661647 | INSR | c.2660G>A (p.Ser887Asn) c.2624G>A (p.Ser875Asn) n.343G>A c.2738G>A (p.Ser913Asn) c.2702G>A (p.Ser901Asn) | |
| 19 | g.7141700T>A | CA403661649 | INSR | c.2659A>T (p.Ser887Cys) c.2623A>T (p.Ser875Cys) n.342A>T c.2737A>T (p.Ser913Cys) c.2701A>T (p.Ser901Cys) | |
| 19 | g.7141700T>C | CA403661651 | INSR | c.2659A>G (p.Ser887Gly) c.2623A>G (p.Ser875Gly) n.342A>G c.2737A>G (p.Ser913Gly) c.2701A>G (p.Ser901Gly) | |
| 19 | g.7141700T>G | CA403661653 | INSR | c.2659A>C (p.Ser887Arg) c.2623A>C (p.Ser875Arg) n.342A>C c.2737A>C (p.Ser913Arg) c.2701A>C (p.Ser901Arg) | |
| 19 | g.7141701C>A | CA505193476 | INSR | c.2658G>T (p.Val886=) c.2622G>T (p.Val874=) n.341G>T c.2736G>T (p.Val912=) c.2700G>T (p.Val900=) | |
| 19 | g.7141701C>G | CA505193475 | INSR | c.2658G>C (p.Val886=) c.2622G>C (p.Val874=) n.341G>C c.2736G>C (p.Val912=) c.2700G>C (p.Val900=) | |
| 19 | g.7141701C>T | CA505193474 | INSR | c.2658G>A (p.Val886=) c.2622G>A (p.Val874=) n.341G>A c.2736G>A (p.Val912=) c.2700G>A (p.Val900=) | |
| 19 | g.7141702A>C | CA403661654 | INSR | c.2657T>G (p.Val886Gly) c.2621T>G (p.Val874Gly) n.340T>G c.2735T>G (p.Val912Gly) c.2699T>G (p.Val900Gly) | gnomAD v4 |
| 19 | g.7141702A>G | CA403661655 | INSR | c.2657T>C (p.Val886Ala) c.2621T>C (p.Val874Ala) n.340T>C c.2735T>C (p.Val912Ala) c.2699T>C (p.Val900Ala) | |
| 19 | g.7141702A>T | CA403661658 | INSR | c.2657T>A (p.Val886Glu) c.2621T>A (p.Val874Glu) n.340T>A c.2735T>A (p.Val912Glu) c.2699T>A (p.Val900Glu) | |
| 19 | g.7141703C>A | CA403661660 | INSR | c.2656G>T (p.Val886Leu) c.2620G>T (p.Val874Leu) n.339G>T c.2734G>T (p.Val912Leu) c.2698G>T (p.Val900Leu) | |
| 19 | g.7141703C>G | CA403661662 | INSR | c.2656G>C (p.Val886Leu) c.2620G>C (p.Val874Leu) n.339G>C c.2734G>C (p.Val912Leu) c.2698G>C (p.Val900Leu) | |
| 19 | g.7141703C>T | CA403661664 | INSR | c.2656G>A (p.Val886Met) c.2620G>A (p.Val874Met) n.339G>A c.2734G>A (p.Val912Met) c.2698G>A (p.Val900Met) | |
| 19 | g.7141704T>A | CA403661666 | INSR | c.2655A>T (p.Glu885Asp) c.2619A>T (p.Glu873Asp) n.338A>T c.2733A>T (p.Glu911Asp) c.2697A>T (p.Glu899Asp) | |
| 19 | g.7141704T>C | CA505193477 | INSR | c.2655A>G (p.Glu885=) c.2619A>G (p.Glu873=) n.338A>G c.2733A>G (p.Glu911=) c.2697A>G (p.Glu899=) | gnomAD v4 |
| 19 | g.7141704T>G | CA403661668 | INSR | c.2655A>C (p.Glu885Asp) c.2619A>C (p.Glu873Asp) n.338A>C c.2733A>C (p.Glu911Asp) c.2697A>C (p.Glu899Asp) | |
| 19 | g.7141705T>A | CA403661670 | INSR | c.2654A>T (p.Glu885Val) c.2618A>T (p.Glu873Val) n.337A>T c.2732A>T (p.Glu911Val) c.2696A>T (p.Glu899Val) | |
| 19 | g.7141705T>C | CA403661672 | INSR | c.2654A>G (p.Glu885Gly) c.2618A>G (p.Glu873Gly) n.337A>G c.2732A>G (p.Glu911Gly) c.2696A>G (p.Glu899Gly) | |
| 19 | g.7141705T>G | CA403661674 | INSR | c.2654A>C (p.Glu885Ala) c.2618A>C (p.Glu873Ala) n.337A>C c.2732A>C (p.Glu911Ala) c.2696A>C (p.Glu899Ala) | |
| 19 | g.7141706C>A | CA403661676 | INSR | c.2653G>T (p.Glu885Ter) c.2617G>T (p.Glu873Ter) n.336G>T c.2731G>T (p.Glu911Ter) c.2695G>T (p.Glu899Ter) | |
| 19 | g.7141706C= | CA2320775560 | INSR | c.2653G= (p.Glu885=) c.2617G= (p.Glu873=) n.336G= c.2731G= (p.Glu911=) c.2695G= (p.Glu899=) | |
| 19 | g.7141706C>G | CA403661677 | INSR | c.2653G>C (p.Glu885Gln) c.2617G>C (p.Glu873Gln) n.336G>C c.2731G>C (p.Glu911Gln) c.2695G>C (p.Glu899Gln) | |
| 19 | g.7141706C>T | CA403661679 | INSR | c.2653G>A (p.Glu885Lys) c.2617G>A (p.Glu873Lys) n.336G>A c.2731G>A (p.Glu911Lys) c.2695G>A (p.Glu899Lys) | dbSNP |
| 19 | g.7141707A= | CA2320775561 | INSR | c.2652T= (p.Tyr884=) c.2616T= (p.Tyr872=) n.335T= c.2730T= (p.Tyr910=) c.2694T= (p.Tyr898=) | |
| 19 | g.7141707A>C | CA403661681 | INSR | c.2652T>G (p.Tyr884Ter) c.2616T>G (p.Tyr872Ter) n.335T>G c.2730T>G (p.Tyr910Ter) c.2694T>G (p.Tyr898Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7141707A>G | CA505193478 | INSR | c.2652T>C (p.Tyr884=) c.2616T>C (p.Tyr872=) n.335T>C c.2730T>C (p.Tyr910=) c.2694T>C (p.Tyr898=) |