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.7150497_7152928del | CA658684219 | INSR | c.2030_2267+1del c.2030_2231+2230del c.2108_2345+1del c.2108_2309+2230del | ClinVar |
| 19 | g.7150499_7152929del | CA916084117 | INSR | c.2031_2267+1del c.2031_2231+2230del c.2109_2345+1del c.2109_2309+2230del | |
| 19 | g.7152762A= | CA2320781009 | INSR | c.2195T= (p.Phe732=) n.2170T= c.2273T= (p.Phe758=) | |
| 19 | g.7152762A>C | CA403664375 | INSR | c.2195T>G (p.Phe732Cys) n.2170T>G c.2273T>G (p.Phe758Cys) | |
| 19 | g.7152762A>G | CA403664376 | INSR | c.2195T>C (p.Phe732Ser) n.2170T>C c.2273T>C (p.Phe758Ser) | dbSNP |
| 19 | g.7152762A>T | CA403664377 | INSR | c.2195T>A (p.Phe732Tyr) n.2170T>A c.2273T>A (p.Phe758Tyr) | |
| 19 | g.7152763A= | CA2320781010 | INSR | c.2194T= (p.Phe732=) n.2169T= c.2272T= (p.Phe758=) | |
| 19 | g.7152763A>C | CA403664378 | INSR | c.2194T>G (p.Phe732Val) n.2169T>G c.2272T>G (p.Phe758Val) | |
| 19 | g.7152763A>G | CA403664379 | INSR | c.2194T>C (p.Phe732Leu) n.2169T>C c.2272T>C (p.Phe758Leu) | |
| 19 | g.7152763A>T | CA403664380 | INSR | c.2194T>A (p.Phe732Ile) n.2169T>A c.2272T>A (p.Phe758Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.7152764C>A | CA505196006 | INSR | c.2193G>T (p.Thr731=) n.2168G>T c.2271G>T (p.Thr757=) | |
| 19 | g.7152764C= | CA2320781011 | INSR | c.2193G= (p.Thr731=) n.2168G= c.2271G= (p.Thr757=) | |
| 19 | g.7152764C>G | CA505196004 | INSR | c.2193G>C (p.Thr731=) n.2168G>C c.2271G>C (p.Thr757=) | |
| 19 | g.7152764C>T | CA200660 | INSR | c.2193G>A (p.Thr731=) n.2168G>A c.2271G>A (p.Thr757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7152764_7152765insCCTT | CA920049458 | INSR | c.2192_2193insAAGG (p.Phe732ArgfsTer3) n.2167_2168insAAGG c.2270_2271insAAGG (p.Phe758ArgfsTer3) | dbSNP |
| 19 | g.7152765G>A | CA403664381 | INSR | c.2192C>T (p.Thr731Met) n.2167C>T c.2270C>T (p.Thr757Met) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7152765G>C | CA403664382 | INSR | c.2192C>G (p.Thr731Arg) n.2167C>G c.2270C>G (p.Thr757Arg) | |
| 19 | g.7152765G>T | CA403664383 | INSR | c.2192C>A (p.Thr731Lys) n.2167C>A c.2270C>A (p.Thr757Lys) | |
| 19 | g.7152766T>A | CA403664384 | INSR | c.2191A>T (p.Thr731Ser) n.2166A>T c.2269A>T (p.Thr757Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7152766T>C | CA403664385 | INSR | c.2191A>G (p.Thr731Ala) n.2166A>G c.2269A>G (p.Thr757Ala) | |
| 19 | g.7152766T>G | CA403664386 | INSR | c.2191A>C (p.Thr731Pro) n.2166A>C c.2269A>C (p.Thr757Pro) | |
| 19 | g.7152766T= | CA2320781012 | INSR | c.2191A= (p.Thr731=) n.2166A= c.2269A= (p.Thr757=) | |
| 19 | g.7152767C>A | CA403664387 | INSR | c.2190G>T (p.Lys730Asn) n.2165G>T c.2268G>T (p.Lys756Asn) | |
| 19 | g.7152767C= | CA2320781013 | INSR | c.2190G= (p.Lys730=) n.2165G= c.2268G= (p.Lys756=) | |
| 19 | g.7152767C>G | CA403664388 | INSR | c.2190G>C (p.Lys730Asn) n.2165G>C c.2268G>C (p.Lys756Asn) | |
| 19 | g.7152767C>T | CA505196019 | INSR | c.2190G>A (p.Lys730=) n.2165G>A c.2268G>A (p.Lys756=) | dbSNP COSMIC COSMIC |
| 19 | g.7152768T>A | CA403664389 | INSR | c.2189A>T (p.Lys730Met) n.2164A>T c.2267A>T (p.Lys756Met) | |
| 19 | g.7152768T>C | CA403664390 | INSR | c.2189A>G (p.Lys730Arg) n.2164A>G c.2267A>G (p.Lys756Arg) | |
| 19 | g.7152768T>G | CA403664391 | INSR | c.2189A>C (p.Lys730Thr) n.2164A>C c.2267A>C (p.Lys756Thr) | |
| 19 | g.7152769T>A | CA403664392 | INSR | c.2188A>T (p.Lys730Ter) n.2163A>T c.2266A>T (p.Lys756Ter) | |
| 19 | g.7152769T>C | CA403664393 | INSR | c.2188A>G (p.Lys730Glu) n.2163A>G c.2266A>G (p.Lys756Glu) | |
| 19 | g.7152769T>G | CA403664394 | INSR | c.2188A>C (p.Lys730Gln) n.2163A>C c.2266A>C (p.Lys756Gln) | |
| 19 | g.7152770C>A | CA403664395 | INSR | c.2187G>T (p.Arg729Ser) n.2162G>T c.2265G>T (p.Arg755Ser) | |
| 19 | g.7152770C>G | CA403664396 | INSR | c.2187G>C (p.Arg729Ser) n.2162G>C c.2265G>C (p.Arg755Ser) | |
| 19 | g.7152770C>T | CA505196033 | INSR | c.2187G>A (p.Arg729=) n.2162G>A c.2265G>A (p.Arg755=) | |
| 19 | g.7152771C>A | CA403664397 | INSR | c.2186G>T (p.Arg729Met) n.2161G>T c.2264G>T (p.Arg755Met) | |
| 19 | g.7152771C>G | CA403664399 | INSR | c.2186G>C (p.Arg729Thr) n.2161G>C c.2264G>C (p.Arg755Thr) | |
| 19 | g.7152771C>T | CA403664398 | INSR | c.2186G>A (p.Arg729Lys) n.2161G>A c.2264G>A (p.Arg755Lys) | |
| 19 | g.7152772T>A | CA403664400 | INSR | c.2185A>T (p.Arg729Trp) n.2160A>T c.2263A>T (p.Arg755Trp) | |
| 19 | g.7152772T>C | CA403664401 | INSR | c.2185A>G (p.Arg729Gly) n.2160A>G c.2263A>G (p.Arg755Gly) | ClinVar dbSNP |
| 19 | g.7152772T>G | CA505196038 | INSR | c.2185A>C (p.Arg729=) n.2160A>C c.2263A>C (p.Arg755=) | |
| 19 | g.7152773A= | CA2320781014 | INSR | c.2184T= (p.Phe728=) n.2159T= c.2262T= (p.Phe754=) | |
| 19 | g.7152773A>C | CA403664402 | INSR | c.2184T>G (p.Phe728Leu) n.2159T>G c.2262T>G (p.Phe754Leu) | |
| 19 | g.7152773A>G | CA505196044 | INSR | c.2184T>C (p.Phe728=) n.2159T>C c.2262T>C (p.Phe754=) | dbSNP gnomAD v4 |
| 19 | g.7152773A>T | CA403664403 | INSR | c.2184T>A (p.Phe728Leu) n.2159T>A c.2262T>A (p.Phe754Leu) | |
| 19 | g.7152774A>C | CA403664404 | INSR | c.2183T>G (p.Phe728Cys) n.2158T>G c.2261T>G (p.Phe754Cys) | |
| 19 | g.7152774A>G | CA403664405 | INSR | c.2183T>C (p.Phe728Ser) n.2158T>C c.2261T>C (p.Phe754Ser) | |
| 19 | g.7152774A>T | CA403664406 | INSR | c.2183T>A (p.Phe728Tyr) n.2158T>A c.2261T>A (p.Phe754Tyr) | |
| 19 | g.7152775A>C | CA403664407 | INSR | c.2182T>G (p.Phe728Val) n.2157T>G c.2260T>G (p.Phe754Val) | |
| 19 | g.7152775A>G | CA403664409 | INSR | c.2182T>C (p.Phe728Leu) n.2157T>C c.2260T>C (p.Phe754Leu) |