UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7131595_7132840del | CA124243 | INSR | c.2683-522_2842+564del c.2647-522_2806+564del c.2761-522_2920+564del c.2725-522_2884+564del | |
| 19 | g.7131614_7132859del | CA124244 | INSR | c.2683-542_2842+544del c.2647-542_2806+544del c.2761-542_2920+544del c.2725-542_2884+544del | |
| 19 | g.7132264C>A | CA403672115 | INSR | c.2736G>T (p.Arg912Ser) c.2700G>T (p.Arg900Ser) c.2814G>T (p.Arg938Ser) c.2778G>T (p.Arg926Ser) | |
| 19 | g.7132264C= | CA2320771094 | INSR | c.2736G= (p.Arg912=) c.2700G= (p.Arg900=) c.2814G= (p.Arg938=) c.2778G= (p.Arg926=) | |
| 19 | g.7132264C>G | CA403672116 | INSR | c.2736G>C (p.Arg912Ser) c.2700G>C (p.Arg900Ser) c.2814G>C (p.Arg938Ser) c.2778G>C (p.Arg926Ser) | |
| 19 | g.7132264C>T | CA207510 | INSR | c.2736G>A (p.Arg912=) c.2700G>A (p.Arg900=) c.2814G>A (p.Arg938=) c.2778G>A (p.Arg926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7132265C>A | CA403672117 | INSR | c.2735G>T (p.Arg912Met) c.2699G>T (p.Arg900Met) c.2813G>T (p.Arg938Met) c.2777G>T (p.Arg926Met) | |
| 19 | g.7132265C>G | CA403672118 | INSR | c.2735G>C (p.Arg912Thr) c.2699G>C (p.Arg900Thr) c.2813G>C (p.Arg938Thr) c.2777G>C (p.Arg926Thr) | |
| 19 | g.7132265C>T | CA403672119 | INSR | c.2735G>A (p.Arg912Lys) c.2699G>A (p.Arg900Lys) c.2813G>A (p.Arg938Lys) c.2777G>A (p.Arg926Lys) | |
| 19 | g.7132266T>A | CA403672120 | INSR | c.2734A>T (p.Arg912Trp) c.2698A>T (p.Arg900Trp) c.2812A>T (p.Arg938Trp) c.2776A>T (p.Arg926Trp) | |
| 19 | g.7132266T>C | CA403672121 | INSR | c.2734A>G (p.Arg912Gly) c.2698A>G (p.Arg900Gly) c.2812A>G (p.Arg938Gly) c.2776A>G (p.Arg926Gly) | gnomAD v4 |
| 19 | g.7132266T>G | CA505217631 | INSR | c.2734A>C (p.Arg912=) c.2698A>C (p.Arg900=) c.2812A>C (p.Arg938=) c.2776A>C (p.Arg926=) | |
| 19 | g.7132267G>A | CA9135464 | INSR | c.2733C>T (p.Cys911=) c.2697C>T (p.Cys899=) c.2811C>T (p.Cys937=) c.2775C>T (p.Cys925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7132267G>C | CA403672123 | INSR | c.2733C>G (p.Cys911Trp) c.2697C>G (p.Cys899Trp) c.2811C>G (p.Cys937Trp) c.2775C>G (p.Cys925Trp) | |
| 19 | g.7132267G= | CA2320771095 | INSR | c.2733C= (p.Cys911=) c.2697C= (p.Cys899=) c.2811C= (p.Cys937=) c.2775C= (p.Cys925=) | |
| 19 | g.7132267G>T | CA403672122 | INSR | c.2733C>A (p.Cys911Ter) c.2697C>A (p.Cys899Ter) c.2811C>A (p.Cys937Ter) c.2775C>A (p.Cys925Ter) | |
| 19 | g.7132268C>A | CA403672124 | INSR | c.2732G>T (p.Cys911Phe) c.2696G>T (p.Cys899Phe) c.2810G>T (p.Cys937Phe) c.2774G>T (p.Cys925Phe) | |
| 19 | g.7132268C>G | CA403672125 | INSR | c.2732G>C (p.Cys911Ser) c.2696G>C (p.Cys899Ser) c.2810G>C (p.Cys937Ser) c.2774G>C (p.Cys925Ser) | |
| 19 | g.7132268C>T | CA403672126 | INSR | c.2732G>A (p.Cys911Tyr) c.2696G>A (p.Cys899Tyr) c.2810G>A (p.Cys937Tyr) c.2774G>A (p.Cys925Tyr) | gnomAD v4 |
| 19 | g.7132269A>C | CA403672127 | INSR | c.2731T>G (p.Cys911Gly) c.2695T>G (p.Cys899Gly) c.2809T>G (p.Cys937Gly) c.2773T>G (p.Cys925Gly) | |
| 19 | g.7132269A>G | CA403672128 | INSR | c.2731T>C (p.Cys911Arg) c.2695T>C (p.Cys899Arg) c.2809T>C (p.Cys937Arg) c.2773T>C (p.Cys925Arg) | |
| 19 | g.7132269A>T | CA403672129 | INSR | c.2731T>A (p.Cys911Ser) c.2695T>A (p.Cys899Ser) c.2809T>A (p.Cys937Ser) c.2773T>A (p.Cys925Ser) | |
| 19 | g.7132270G>A | CA505217641 | INSR | c.2730C>T (p.Gly910=) c.2694C>T (p.Gly898=) c.2808C>T (p.Gly936=) c.2772C>T (p.Gly924=) | gnomAD v4 |
| 19 | g.7132270G>C | CA505217639 | INSR | c.2730C>G (p.Gly910=) c.2694C>G (p.Gly898=) c.2808C>G (p.Gly936=) c.2772C>G (p.Gly924=) | |
| 19 | g.7132270G>T | CA505217642 | INSR | c.2730C>A (p.Gly910=) c.2694C>A (p.Gly898=) c.2808C>A (p.Gly936=) c.2772C>A (p.Gly924=) | |
| 19 | g.7132271C>A | CA403672130 | INSR | c.2729G>T (p.Gly910Val) c.2693G>T (p.Gly898Val) c.2807G>T (p.Gly936Val) c.2771G>T (p.Gly924Val) | gnomAD v4 COSMIC |
| 19 | g.7132271C>G | CA403672131 | INSR | c.2729G>C (p.Gly910Ala) c.2693G>C (p.Gly898Ala) c.2807G>C (p.Gly936Ala) c.2771G>C (p.Gly924Ala) | |
| 19 | g.7132271C>T | CA403672132 | INSR | c.2729G>A (p.Gly910Asp) c.2693G>A (p.Gly898Asp) c.2807G>A (p.Gly936Asp) c.2771G>A (p.Gly924Asp) | |
| 19 | g.7132272C>A | CA403672133 | INSR | c.2728G>T (p.Gly910Cys) c.2692G>T (p.Gly898Cys) c.2806G>T (p.Gly936Cys) c.2770G>T (p.Gly924Cys) | |
| 19 | g.7132272C>G | CA403672134 | INSR | c.2728G>C (p.Gly910Arg) c.2692G>C (p.Gly898Arg) c.2806G>C (p.Gly936Arg) c.2770G>C (p.Gly924Arg) | |
| 19 | g.7132272C>T | CA403672135 | INSR | c.2728G>A (p.Gly910Ser) c.2692G>A (p.Gly898Ser) c.2806G>A (p.Gly936Ser) c.2770G>A (p.Gly924Ser) | |
| 19 | g.7132273C>A | CA505217646 | INSR | c.2727G>T (p.Arg909=) c.2691G>T (p.Arg897=) c.2805G>T (p.Arg935=) c.2769G>T (p.Arg923=) | |
| 19 | g.7132273C>G | CA505217647 | INSR | c.2727G>C (p.Arg909=) c.2691G>C (p.Arg897=) c.2805G>C (p.Arg935=) c.2769G>C (p.Arg923=) | |
| 19 | g.7132273C>T | CA505217648 | INSR | c.2727G>A (p.Arg909=) c.2691G>A (p.Arg897=) c.2805G>A (p.Arg935=) c.2769G>A (p.Arg923=) | |
| 19 | g.7132274C>A | CA403672137 | INSR | c.2726G>T (p.Arg909Leu) c.2690G>T (p.Arg897Leu) c.2804G>T (p.Arg935Leu) c.2768G>T (p.Arg923Leu) | |
| 19 | g.7132274C= | CA2320771096 | INSR | c.2726G= (p.Arg909=) c.2690G= (p.Arg897=) c.2804G= (p.Arg935=) c.2768G= (p.Arg923=) | |
| 19 | g.7132274C>G | CA403672136 | INSR | c.2726G>C (p.Arg909Pro) c.2690G>C (p.Arg897Pro) c.2804G>C (p.Arg935Pro) c.2768G>C (p.Arg923Pro) | |
| 19 | g.7132274C>T | CA9135465 | INSR | c.2726G>A (p.Arg909Gln) c.2690G>A (p.Arg897Gln) c.2804G>A (p.Arg935Gln) c.2768G>A (p.Arg923Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7132275G>A | CA9135466 | INSR | c.2725C>T (p.Arg909Trp) c.2689C>T (p.Arg897Trp) c.2803C>T (p.Arg935Trp) c.2767C>T (p.Arg923Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7132275G>C | CA403672138 | INSR | c.2725C>G (p.Arg909Gly) c.2689C>G (p.Arg897Gly) c.2803C>G (p.Arg935Gly) c.2767C>G (p.Arg923Gly) | |
| 19 | g.7132275G= | CA2320771097 | INSR | c.2725C= (p.Arg909=) c.2689C= (p.Arg897=) c.2803C= (p.Arg935=) c.2767C= (p.Arg923=) | |
| 19 | g.7132275G>T | CA505217652 | INSR | c.2725C>A (p.Arg909=) c.2689C>A (p.Arg897=) c.2803C>A (p.Arg935=) c.2767C>A (p.Arg923=) | |
| 19 | g.7132276T>A | CA403672139 | INSR | c.2724A>T (p.Glu908Asp) c.2688A>T (p.Glu896Asp) c.2802A>T (p.Glu934Asp) c.2766A>T (p.Glu922Asp) | |
| 19 | g.7132276T>C | CA505217654 | INSR | c.2724A>G (p.Glu908=) c.2688A>G (p.Glu896=) c.2802A>G (p.Glu934=) c.2766A>G (p.Glu922=) | dbSNP |
| 19 | g.7132276T>G | CA403672140 | INSR | c.2724A>C (p.Glu908Asp) c.2688A>C (p.Glu896Asp) c.2802A>C (p.Glu934Asp) c.2766A>C (p.Glu922Asp) | |
| 19 | g.7132277T>A | CA403672141 | INSR | c.2723A>T (p.Glu908Val) c.2687A>T (p.Glu896Val) c.2801A>T (p.Glu934Val) c.2765A>T (p.Glu922Val) | |
| 19 | g.7132277T>C | CA403672142 | INSR | c.2723A>G (p.Glu908Gly) c.2687A>G (p.Glu896Gly) c.2801A>G (p.Glu934Gly) c.2765A>G (p.Glu922Gly) | |
| 19 | g.7132277T>G | CA403672143 | INSR | c.2723A>C (p.Glu908Ala) c.2687A>C (p.Glu896Ala) c.2801A>C (p.Glu934Ala) c.2765A>C (p.Glu922Ala) | |
| 19 | g.7132278C>A | CA403672144 | INSR | c.2722G>T (p.Glu908Ter) c.2686G>T (p.Glu896Ter) c.2800G>T (p.Glu934Ter) c.2764G>T (p.Glu922Ter) | |
| 19 | g.7132278C>G | CA403672145 | INSR | c.2722G>C (p.Glu908Gln) c.2686G>C (p.Glu896Gln) c.2800G>C (p.Glu934Gln) c.2764G>C (p.Glu922Gln) |