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.7132164C>A | CA403671910 | INSR | c.2836G>T (p.Asp946Tyr) c.2800G>T (p.Asp934Tyr) c.2914G>T (p.Asp972Tyr) c.2878G>T (p.Asp960Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7132164C= | CA2320771050 | INSR | c.2836G= (p.Asp946=) c.2800G= (p.Asp934=) c.2914G= (p.Asp972=) c.2878G= (p.Asp960=) | |
| 19 | g.7132164C>G | CA403671911 | INSR | c.2836G>C (p.Asp946His) c.2800G>C (p.Asp934His) c.2914G>C (p.Asp972His) c.2878G>C (p.Asp960His) | |
| 19 | g.7132164C>T | CA403671909 | INSR | c.2836G>A (p.Asp946Asn) c.2800G>A (p.Asp934Asn) c.2914G>A (p.Asp972Asn) c.2878G>A (p.Asp960Asn) | COSMIC COSMIC |
| 19 | g.7132165T>A | CA505217441 | INSR | c.2835A>T (p.Thr945=) c.2799A>T (p.Thr933=) c.2913A>T (p.Thr971=) c.2877A>T (p.Thr959=) | |
| 19 | g.7132165T>C | CA505217442 | INSR | c.2835A>G (p.Thr945=) c.2799A>G (p.Thr933=) c.2913A>G (p.Thr971=) c.2877A>G (p.Thr959=) | |
| 19 | g.7132165T>G | CA505217443 | INSR | c.2835A>C (p.Thr945=) c.2799A>C (p.Thr933=) c.2913A>C (p.Thr971=) c.2877A>C (p.Thr959=) | |
| 19 | g.7132166G>A | CA403671912 | INSR | c.2834C>T (p.Thr945Ile) c.2798C>T (p.Thr933Ile) c.2912C>T (p.Thr971Ile) c.2876C>T (p.Thr959Ile) | gnomAD v4 |
| 19 | g.7132166G>C | CA403671913 | INSR | c.2834C>G (p.Thr945Arg) c.2798C>G (p.Thr933Arg) c.2912C>G (p.Thr971Arg) c.2876C>G (p.Thr959Arg) | |
| 19 | g.7132166G>T | CA403671914 | INSR | c.2834C>A (p.Thr945Lys) c.2798C>A (p.Thr933Lys) c.2912C>A (p.Thr971Lys) c.2876C>A (p.Thr959Lys) | |
| 19 | g.7132167T>A | CA403671915 | INSR | c.2833A>T (p.Thr945Ser) c.2797A>T (p.Thr933Ser) c.2911A>T (p.Thr971Ser) c.2875A>T (p.Thr959Ser) | gnomAD v4 |
| 19 | g.7132167T>C | CA403671916 | INSR | c.2833A>G (p.Thr945Ala) c.2797A>G (p.Thr933Ala) c.2911A>G (p.Thr971Ala) c.2875A>G (p.Thr959Ala) | gnomAD v4 |
| 19 | g.7132167T>G | CA403671917 | INSR | c.2833A>C (p.Thr945Pro) c.2797A>C (p.Thr933Pro) c.2911A>C (p.Thr971Pro) c.2875A>C (p.Thr959Pro) | |
| 19 | g.7132168C>A | CA505217445 | INSR | c.2832G>T (p.Val944=) c.2796G>T (p.Val932=) c.2910G>T (p.Val970=) c.2874G>T (p.Val958=) | gnomAD v4 |
| 19 | g.7132168C= | CA2320771051 | INSR | c.2832G= (p.Val944=) c.2796G= (p.Val932=) c.2910G= (p.Val970=) c.2874G= (p.Val958=) | |
| 19 | g.7132168C>G | CA505217444 | INSR | c.2832G>C (p.Val944=) c.2796G>C (p.Val932=) c.2910G>C (p.Val970=) c.2874G>C (p.Val958=) | dbSNP gnomAD v2 |
| 19 | g.7132168C>T | CA9135445 | INSR | c.2832G>A (p.Val944=) c.2796G>A (p.Val932=) c.2910G>A (p.Val970=) c.2874G>A (p.Val958=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7132169A>C | CA403671918 | INSR | c.2831T>G (p.Val944Gly) c.2795T>G (p.Val932Gly) c.2909T>G (p.Val970Gly) c.2873T>G (p.Val958Gly) | |
| 19 | g.7132169A>G | CA403671919 | INSR | c.2831T>C (p.Val944Ala) c.2795T>C (p.Val932Ala) c.2909T>C (p.Val970Ala) c.2873T>C (p.Val958Ala) | |
| 19 | g.7132169A>T | CA403671920 | INSR | c.2831T>A (p.Val944Glu) c.2795T>A (p.Val932Glu) c.2909T>A (p.Val970Glu) c.2873T>A (p.Val958Glu) | |
| 19 | g.7132170C>A | CA403671921 | INSR | c.2830G>T (p.Val944Leu) c.2794G>T (p.Val932Leu) c.2908G>T (p.Val970Leu) c.2872G>T (p.Val958Leu) | |
| 19 | g.7132170C= | CA2320771052 | INSR | c.2830G= (p.Val944=) c.2794G= (p.Val932=) c.2908G= (p.Val970=) c.2872G= (p.Val958=) | |
| 19 | g.7132170C>G | CA403671922 | INSR | c.2830G>C (p.Val944Leu) c.2794G>C (p.Val932Leu) c.2908G>C (p.Val970Leu) c.2872G>C (p.Val958Leu) | ClinVar |
| 19 | g.7132170C>T | CA9135446 | INSR | c.2830G>A (p.Val944Met) c.2794G>A (p.Val932Met) c.2908G>A (p.Val970Met) c.2872G>A (p.Val958Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7132171G>A | CA9135447 | INSR | c.2829C>T (p.Tyr943=) c.2793C>T (p.Tyr931=) c.2907C>T (p.Tyr969=) c.2871C>T (p.Tyr957=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7132171G>C | CA403671924 | INSR | c.2829C>G (p.Tyr943Ter) c.2793C>G (p.Tyr931Ter) c.2907C>G (p.Tyr969Ter) c.2871C>G (p.Tyr957Ter) | |
| 19 | g.7132171G= | CA2320771053 | INSR | c.2829C= (p.Tyr943=) c.2793C= (p.Tyr931=) c.2907C= (p.Tyr969=) c.2871C= (p.Tyr957=) | |
| 19 | g.7132171G>T | CA403671923 | INSR | c.2829C>A (p.Tyr943Ter) c.2793C>A (p.Tyr931Ter) c.2907C>A (p.Tyr969Ter) c.2871C>A (p.Tyr957Ter) | |
| 19 | g.7132172T>A | CA403671925 | INSR | c.2828A>T (p.Tyr943Phe) c.2792A>T (p.Tyr931Phe) c.2906A>T (p.Tyr969Phe) c.2870A>T (p.Tyr957Phe) | dbSNP |
| 19 | g.7132172T>C | CA403671927 | INSR | c.2828A>G (p.Tyr943Cys) c.2792A>G (p.Tyr931Cys) c.2906A>G (p.Tyr969Cys) c.2870A>G (p.Tyr957Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7132172T>G | CA403671926 | INSR | c.2828A>C (p.Tyr943Ser) c.2792A>C (p.Tyr931Ser) c.2906A>C (p.Tyr969Ser) c.2870A>C (p.Tyr957Ser) | |
| 19 | g.7132172T= | CA2320771054 | INSR | c.2828A= (p.Tyr943=) c.2792A= (p.Tyr931=) c.2906A= (p.Tyr969=) c.2870A= (p.Tyr957=) | |
| 19 | g.7132173A>C | CA403671928 | INSR | c.2827T>G (p.Tyr943Asp) c.2791T>G (p.Tyr931Asp) c.2905T>G (p.Tyr969Asp) c.2869T>G (p.Tyr957Asp) | gnomAD v4 |
| 19 | g.7132173A>G | CA403671929 | INSR | c.2827T>C (p.Tyr943His) c.2791T>C (p.Tyr931His) c.2905T>C (p.Tyr969His) c.2869T>C (p.Tyr957His) | |
| 19 | g.7132173A>T | CA403671930 | INSR | c.2827T>A (p.Tyr943Asn) c.2791T>A (p.Tyr931Asn) c.2905T>A (p.Tyr969Asn) c.2869T>A (p.Tyr957Asn) | |
| 19 | g.7132174G>A | CA505217446 | INSR | c.2826C>T (p.Phe942=) c.2790C>T (p.Phe930=) c.2904C>T (p.Phe968=) c.2868C>T (p.Phe956=) | gnomAD v4 |
| 19 | g.7132174G>C | CA304878369 | INSR | c.2826C>G (p.Phe942Leu) c.2790C>G (p.Phe930Leu) c.2904C>G (p.Phe968Leu) c.2868C>G (p.Phe956Leu) | dbSNP |
| 19 | g.7132174G= | CA2320771055 | INSR | c.2826C= (p.Phe942=) c.2790C= (p.Phe930=) c.2904C= (p.Phe968=) c.2868C= (p.Phe956=) | |
| 19 | g.7132174G>T | CA403671931 | INSR | c.2826C>A (p.Phe942Leu) c.2790C>A (p.Phe930Leu) c.2904C>A (p.Phe968Leu) c.2868C>A (p.Phe956Leu) | |
| 19 | g.7132175A>C | CA403671932 | INSR | c.2825T>G (p.Phe942Cys) c.2789T>G (p.Phe930Cys) c.2903T>G (p.Phe968Cys) c.2867T>G (p.Phe956Cys) | |
| 19 | g.7132175A>G | CA403671933 | INSR | c.2825T>C (p.Phe942Ser) c.2789T>C (p.Phe930Ser) c.2903T>C (p.Phe968Ser) c.2867T>C (p.Phe956Ser) | |
| 19 | g.7132175A>T | CA403671934 | INSR | c.2825T>A (p.Phe942Tyr) c.2789T>A (p.Phe930Tyr) c.2903T>A (p.Phe968Tyr) c.2867T>A (p.Phe956Tyr) | |
| 19 | g.7132176A>C | CA403671935 | INSR | c.2824T>G (p.Phe942Val) c.2788T>G (p.Phe930Val) c.2902T>G (p.Phe968Val) c.2866T>G (p.Phe956Val) | |
| 19 | g.7132176A>G | CA403671936 | INSR | c.2824T>C (p.Phe942Leu) c.2788T>C (p.Phe930Leu) c.2902T>C (p.Phe968Leu) c.2866T>C (p.Phe956Leu) | gnomAD v4 |
| 19 | g.7132176A>T | CA403671937 | INSR | c.2824T>A (p.Phe942Ile) c.2788T>A (p.Phe930Ile) c.2902T>A (p.Phe968Ile) c.2866T>A (p.Phe956Ile) | |
| 19 | g.7132177A>C | CA403671938 | INSR | c.2823T>G (p.Tyr941Ter) c.2787T>G (p.Tyr929Ter) c.2901T>G (p.Tyr967Ter) c.2865T>G (p.Tyr955Ter) | |
| 19 | g.7132177A>G | CA505217447 | INSR | c.2823T>C (p.Tyr941=) c.2787T>C (p.Tyr929=) c.2901T>C (p.Tyr967=) c.2865T>C (p.Tyr955=) | |
| 19 | g.7132177A>T | CA403671939 | INSR | c.2823T>A (p.Tyr941Ter) c.2787T>A (p.Tyr929Ter) c.2901T>A (p.Tyr967Ter) c.2865T>A (p.Tyr955Ter) |