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.7143071A>C | CA403662770 | INSR | c.2287T>G (p.Ser763Ala) c.2251T>G (p.Ser751Ala) c.2365T>G (p.Ser789Ala) c.2329T>G (p.Ser777Ala) | |
| 19 | g.7143071A>G | CA403662771 | INSR | c.2287T>C (p.Ser763Pro) c.2251T>C (p.Ser751Pro) c.2365T>C (p.Ser789Pro) c.2329T>C (p.Ser777Pro) | |
| 19 | g.7143071A>T | CA403662772 | INSR | c.2287T>A (p.Ser763Thr) c.2251T>A (p.Ser751Thr) c.2365T>A (p.Ser789Thr) c.2329T>A (p.Ser777Thr) | |
| 19 | g.7143072C>A | CA124221 | INSR | c.2286G>T (p.Arg762Ser) c.2250G>T (p.Arg750Ser) c.2364G>T (p.Arg788Ser) c.2328G>T (p.Arg776Ser) | ClinVar dbSNP |
| 19 | g.7143072C= | CA2320776134 | INSR | c.2286G= (p.Arg762=) c.2250G= (p.Arg750=) c.2364G= (p.Arg788=) c.2328G= (p.Arg776=) | |
| 19 | g.7143072C>G | CA403662773 | INSR | c.2286G>C (p.Arg762Ser) c.2250G>C (p.Arg750Ser) c.2364G>C (p.Arg788Ser) c.2328G>C (p.Arg776Ser) | |
| 19 | g.7143072C>T | CA505400444 | INSR | c.2286G>A (p.Arg762=) c.2250G>A (p.Arg750=) c.2364G>A (p.Arg788=) c.2328G>A (p.Arg776=) | |
| 19 | g.7143073C>A | CA403662774 | INSR | c.2285G>T (p.Arg762Met) c.2249G>T (p.Arg750Met) c.2363G>T (p.Arg788Met) c.2327G>T (p.Arg776Met) | |
| 19 | g.7143073C>G | CA403662775 | INSR | c.2285G>C (p.Arg762Thr) c.2249G>C (p.Arg750Thr) c.2363G>C (p.Arg788Thr) c.2327G>C (p.Arg776Thr) | |
| 19 | g.7143073C>T | CA403662776 | INSR | c.2285G>A (p.Arg762Lys) c.2249G>A (p.Arg750Lys) c.2363G>A (p.Arg788Lys) c.2327G>A (p.Arg776Lys) | |
| 19 | g.7143074T>A | CA403662777 | INSR | c.2284A>T (p.Arg762Trp) c.2248A>T (p.Arg750Trp) c.2362A>T (p.Arg788Trp) c.2326A>T (p.Arg776Trp) | |
| 19 | g.7143074T>C | CA403662778 | INSR | c.2284A>G (p.Arg762Gly) c.2248A>G (p.Arg750Gly) c.2362A>G (p.Arg788Gly) c.2326A>G (p.Arg776Gly) | COSMIC COSMIC |
| 19 | g.7143074T>G | CA505400445 | INSR | c.2284A>C (p.Arg762=) c.2248A>C (p.Arg750=) c.2362A>C (p.Arg788=) c.2326A>C (p.Arg776=) | |
| 19 | g.7143075G>A | CA505400448 | INSR | c.2283C>T (p.Arg761=) c.2247C>T (p.Arg749=) c.2361C>T (p.Arg787=) c.2325C>T (p.Arg775=) | gnomAD v4 |
| 19 | g.7143075G>C | CA505400446 | INSR | c.2283C>G (p.Arg761=) c.2247C>G (p.Arg749=) c.2361C>G (p.Arg787=) c.2325C>G (p.Arg775=) | |
| 19 | g.7143075G>T | CA505400447 | INSR | c.2283C>A (p.Arg761=) c.2247C>A (p.Arg749=) c.2361C>A (p.Arg787=) c.2325C>A (p.Arg775=) | |
| 19 | g.7143076C>A | CA403662779 | INSR | c.2282G>T (p.Arg761Leu) c.2246G>T (p.Arg749Leu) c.2360G>T (p.Arg787Leu) c.2324G>T (p.Arg775Leu) | |
| 19 | g.7143076C>G | CA403662780 | INSR | c.2282G>C (p.Arg761Pro) c.2246G>C (p.Arg749Pro) c.2360G>C (p.Arg787Pro) c.2324G>C (p.Arg775Pro) | |
| 19 | g.7143076C>T | CA403662781 | INSR | c.2282G>A (p.Arg761His) c.2246G>A (p.Arg749His) c.2360G>A (p.Arg787His) c.2324G>A (p.Arg775His) | gnomAD v4 |
| 19 | g.7143077G>A | CA403662783 | INSR | c.2281C>T (p.Arg761Cys) c.2245C>T (p.Arg749Cys) c.2359C>T (p.Arg787Cys) c.2323C>T (p.Arg775Cys) | gnomAD v4 |
| 19 | g.7143077G>C | CA403662784 | INSR | c.2281C>G (p.Arg761Gly) c.2245C>G (p.Arg749Gly) c.2359C>G (p.Arg787Gly) c.2323C>G (p.Arg775Gly) | |
| 19 | g.7143077G>T | CA403662782 | INSR | c.2281C>A (p.Arg761Ser) c.2245C>A (p.Arg749Ser) c.2359C>A (p.Arg787Ser) c.2323C>A (p.Arg775Ser) | |
| 19 | g.7143078T>A | CA403662785 | INSR | c.2280A>T (p.Lys760Asn) c.2244A>T (p.Lys748Asn) c.2358A>T (p.Lys786Asn) c.2322A>T (p.Lys774Asn) | |
| 19 | g.7143078T>C | CA9135586 | INSR | c.2280A>G (p.Lys760=) c.2244A>G (p.Lys748=) c.2358A>G (p.Lys786=) c.2322A>G (p.Lys774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7143078T>G | CA403662786 | INSR | c.2280A>C (p.Lys760Asn) c.2244A>C (p.Lys748Asn) c.2358A>C (p.Lys786Asn) c.2322A>C (p.Lys774Asn) | |
| 19 | g.7143078T= | CA2320776136 | INSR | c.2280A= (p.Lys760=) c.2244A= (p.Lys748=) c.2358A= (p.Lys786=) c.2322A= (p.Lys774=) | |
| 19 | g.7143079T>A | CA403662787 | INSR | c.2279A>T (p.Lys760Ile) c.2243A>T (p.Lys748Ile) c.2357A>T (p.Lys786Ile) c.2321A>T (p.Lys774Ile) | |
| 19 | g.7143079T>C | CA403662788 | INSR | c.2279A>G (p.Lys760Arg) c.2243A>G (p.Lys748Arg) c.2357A>G (p.Lys786Arg) c.2321A>G (p.Lys774Arg) | |
| 19 | g.7143079T>G | CA403662789 | INSR | c.2279A>C (p.Lys760Thr) c.2243A>C (p.Lys748Thr) c.2357A>C (p.Lys786Thr) c.2321A>C (p.Lys774Thr) | |
| 19 | g.7143080T>A | CA403662790 | INSR | c.2278A>T (p.Lys760Ter) c.2242A>T (p.Lys748Ter) c.2356A>T (p.Lys786Ter) c.2320A>T (p.Lys774Ter) | |
| 19 | g.7143080T>C | CA403662791 | INSR | c.2278A>G (p.Lys760Glu) c.2242A>G (p.Lys748Glu) c.2356A>G (p.Lys786Glu) c.2320A>G (p.Lys774Glu) | |
| 19 | g.7143080T>G | CA403662792 | INSR | c.2278A>C (p.Lys760Gln) c.2242A>C (p.Lys748Gln) c.2356A>C (p.Lys786Gln) c.2320A>C (p.Lys774Gln) | |
| 19 | g.7143081C>A | CA505400450 | INSR | c.2277G>T (p.Arg759=) c.2241G>T (p.Arg747=) c.2355G>T (p.Arg785=) c.2319G>T (p.Arg773=) | |
| 19 | g.7143081C>G | CA505400451 | INSR | c.2277G>C (p.Arg759=) c.2241G>C (p.Arg747=) c.2355G>C (p.Arg785=) c.2319G>C (p.Arg773=) | |
| 19 | g.7143081C>T | CA505400453 | INSR | c.2277G>A (p.Arg759=) c.2241G>A (p.Arg747=) c.2355G>A (p.Arg785=) c.2319G>A (p.Arg773=) | gnomAD v4 |
| 19 | g.7143082C>A | CA403662793 | INSR | c.2276G>T (p.Arg759Leu) c.2240G>T (p.Arg747Leu) c.2354G>T (p.Arg785Leu) c.2318G>T (p.Arg773Leu) | |
| 19 | g.7143082C= | CA2320776139 | INSR | c.2276G= (p.Arg759=) c.2240G= (p.Arg747=) c.2354G= (p.Arg785=) c.2318G= (p.Arg773=) | |
| 19 | g.7143082C>G | CA403662794 | INSR | c.2276G>C (p.Arg759Pro) c.2240G>C (p.Arg747Pro) c.2354G>C (p.Arg785Pro) c.2318G>C (p.Arg773Pro) | |
| 19 | g.7143082C>T | CA403662795 | INSR | c.2276G>A (p.Arg759Gln) c.2240G>A (p.Arg747Gln) c.2354G>A (p.Arg785Gln) c.2318G>A (p.Arg773Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7143083G>A | CA16620911 | INSR | c.2275C>T (p.Arg759Trp) c.2239C>T (p.Arg747Trp) c.2353C>T (p.Arg785Trp) c.2317C>T (p.Arg773Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7143083G>C | CA403662796 | INSR | c.2275C>G (p.Arg759Gly) c.2239C>G (p.Arg747Gly) c.2353C>G (p.Arg785Gly) c.2317C>G (p.Arg773Gly) | |
| 19 | g.7143083G= | CA2320776142 | INSR | c.2275C= (p.Arg759=) c.2239C= (p.Arg747=) c.2353C= (p.Arg785=) c.2317C= (p.Arg773=) | |
| 19 | g.7143083G>T | CA505400454 | INSR | c.2275C>A (p.Arg759=) c.2239C>A (p.Arg747=) c.2353C>A (p.Arg785=) c.2317C>A (p.Arg773=) | |
| 19 | g.7143084A= | CA2320776145 | INSR | c.2274T= (p.Ser758=) c.2238T= (p.Ser746=) c.2352T= (p.Ser784=) c.2316T= (p.Ser772=) | |
| 19 | g.7143084A>C | CA505400455 | INSR | c.2274T>G (p.Ser758=) c.2238T>G (p.Ser746=) c.2352T>G (p.Ser784=) c.2316T>G (p.Ser772=) | |
| 19 | g.7143084A>G | CA9135587 | INSR | c.2274T>C (p.Ser758=) c.2238T>C (p.Ser746=) c.2352T>C (p.Ser784=) c.2316T>C (p.Ser772=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7143084A>T | CA505400457 | INSR | c.2274T>A (p.Ser758=) c.2238T>A (p.Ser746=) c.2352T>A (p.Ser784=) c.2316T>A (p.Ser772=) | |
| 19 | g.7143085G>A | CA403662797 | INSR | c.2273C>T (p.Ser758Phe) c.2237C>T (p.Ser746Phe) c.2351C>T (p.Ser784Phe) c.2315C>T (p.Ser772Phe) | |
| 19 | g.7143085G>C | CA403662798 | INSR | c.2273C>G (p.Ser758Cys) c.2237C>G (p.Ser746Cys) c.2351C>G (p.Ser784Cys) c.2315C>G (p.Ser772Cys) | |
| 19 | g.7143085G>T | CA403662799 | INSR | c.2273C>A (p.Ser758Tyr) c.2237C>A (p.Ser746Tyr) c.2351C>A (p.Ser784Tyr) c.2315C>A (p.Ser772Tyr) |