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 |
|---|---|---|---|---|---|
| 3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
| 3 | g.122284636_122285178del | CA281596 | CASR | c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del) | ClinVar dbSNP |
| 3 | g.122284714C>A | CA354160708 | CASR | c.2529C>A (p.Ser843Arg) c.2790C>A (p.Ser930Arg) c.2760C>A (p.Ser920Arg) c.2277C>A (p.Ser759Arg) c.2172C>A (p.Ser724Arg) | |
| 3 | g.122284714C= | CA1397872878 | CASR | c.2529C= (p.Ser843=) c.2790C= (p.Ser930=) c.2760C= (p.Ser920=) c.2277C= (p.Ser759=) c.2172C= (p.Ser724=) | |
| 3 | g.122284714C>G | CA2569858 | CASR | c.2529C>G (p.Ser843Arg) c.2790C>G (p.Ser930Arg) c.2760C>G (p.Ser920Arg) c.2277C>G (p.Ser759Arg) c.2172C>G (p.Ser724Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284714C>T | CA435425411 | CASR | c.2529C>T (p.Ser843=) c.2790C>T (p.Ser930=) c.2760C>T (p.Ser920=) c.2277C>T (p.Ser759=) c.2172C>T (p.Ser724=) | ClinVar dbSNP |
| 3 | g.122284715G>A | CA2569859 | CASR | c.2530G>A (p.Glu844Lys) c.2791G>A (p.Glu931Lys) c.2761G>A (p.Glu921Lys) c.2278G>A (p.Glu760Lys) c.2173G>A (p.Glu725Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284715G>C | CA354160709 | CASR | c.2530G>C (p.Glu844Gln) c.2791G>C (p.Glu931Gln) c.2761G>C (p.Glu921Gln) c.2278G>C (p.Glu760Gln) c.2173G>C (p.Glu725Gln) | |
| 3 | g.122284715G= | CA1397872880 | CASR | c.2530G= (p.Glu844=) c.2791G= (p.Glu931=) c.2761G= (p.Glu921=) c.2278G= (p.Glu760=) c.2173G= (p.Glu725=) | |
| 3 | g.122284715G>T | CA354160710 | CASR | c.2530G>T (p.Glu844Ter) c.2791G>T (p.Glu931Ter) c.2761G>T (p.Glu921Ter) c.2278G>T (p.Glu760Ter) c.2173G>T (p.Glu725Ter) | |
| 3 | g.122284716A>C | CA354160711 | CASR | c.2531A>C (p.Glu844Ala) c.2792A>C (p.Glu931Ala) c.2762A>C (p.Glu921Ala) c.2279A>C (p.Glu760Ala) c.2174A>C (p.Glu725Ala) | |
| 3 | g.122284716A>G | CA354160712 | CASR | c.2531A>G (p.Glu844Gly) c.2792A>G (p.Glu931Gly) c.2762A>G (p.Glu921Gly) c.2279A>G (p.Glu760Gly) c.2174A>G (p.Glu725Gly) | |
| 3 | g.122284716A>T | CA354160713 | CASR | c.2531A>T (p.Glu844Val) c.2792A>T (p.Glu931Val) c.2762A>T (p.Glu921Val) c.2279A>T (p.Glu760Val) c.2174A>T (p.Glu725Val) | |
| 3 | g.122284717A>C | CA354160714 | CASR | c.2532A>C (p.Glu844Asp) c.2793A>C (p.Glu931Asp) c.2763A>C (p.Glu921Asp) c.2280A>C (p.Glu760Asp) c.2175A>C (p.Glu725Asp) | |
| 3 | g.122284717A>G | CA435425413 | CASR | c.2532A>G (p.Glu844=) c.2793A>G (p.Glu931=) c.2763A>G (p.Glu921=) c.2280A>G (p.Glu760=) c.2175A>G (p.Glu725=) | ClinVar |
| 3 | g.122284717A>T | CA354160715 | CASR | c.2532A>T (p.Glu844Asp) c.2793A>T (p.Glu931Asp) c.2763A>T (p.Glu921Asp) c.2280A>T (p.Glu760Asp) c.2175A>T (p.Glu725Asp) | |
| 3 | g.122284718G>A | CA354160717 | CASR | c.2533G>A (p.Asp845Asn) c.2794G>A (p.Asp932Asn) c.2764G>A (p.Asp922Asn) c.2281G>A (p.Asp761Asn) c.2176G>A (p.Asp726Asn) | |
| 3 | g.122284718G>C | CA2569860 | CASR | c.2533G>C (p.Asp845His) c.2794G>C (p.Asp932His) c.2764G>C (p.Asp922His) c.2281G>C (p.Asp761His) c.2176G>C (p.Asp726His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284718G= | CA1397872882 | CASR | c.2533G= (p.Asp845=) c.2794G= (p.Asp932=) c.2764G= (p.Asp922=) c.2281G= (p.Asp761=) c.2176G= (p.Asp726=) | |
| 3 | g.122284718G>T | CA354160716 | CASR | c.2533G>T (p.Asp845Tyr) c.2794G>T (p.Asp932Tyr) c.2764G>T (p.Asp922Tyr) c.2281G>T (p.Asp761Tyr) c.2176G>T (p.Asp726Tyr) | |
| 3 | g.122284719A>C | CA354160718 | CASR | c.2534A>C (p.Asp845Ala) c.2795A>C (p.Asp932Ala) c.2765A>C (p.Asp922Ala) c.2282A>C (p.Asp761Ala) c.2177A>C (p.Asp726Ala) | |
| 3 | g.122284719A>G | CA354160719 | CASR | c.2534A>G (p.Asp845Gly) c.2795A>G (p.Asp932Gly) c.2765A>G (p.Asp922Gly) c.2282A>G (p.Asp761Gly) c.2177A>G (p.Asp726Gly) | |
| 3 | g.122284719A>T | CA354160720 | CASR | c.2534A>T (p.Asp845Val) c.2795A>T (p.Asp932Val) c.2765A>T (p.Asp922Val) c.2282A>T (p.Asp761Val) c.2177A>T (p.Asp726Val) | |
| 3 | g.122284719_122284720delinsAC | CA1397872883 | CASR | c.2534_2535delinsAC (p.Asp845=) c.2795_2796delinsAC (p.Asp932=) c.2765_2766delinsAC (p.Asp922=) c.2282_2283delinsAC (p.Asp761=) c.2177_2178delinsAC (p.Asp726=) | |
| 3 | g.122284720C>A | CA354160721 | CASR | c.2535C>A (p.Asp845Glu) c.2796C>A (p.Asp932Glu) c.2766C>A (p.Asp922Glu) c.2283C>A (p.Asp761Glu) c.2178C>A (p.Asp726Glu) | |
| 3 | g.122284720C>G | CA354160722 | CASR | c.2535C>G (p.Asp845Glu) c.2796C>G (p.Asp932Glu) c.2766C>G (p.Asp922Glu) c.2283C>G (p.Asp761Glu) c.2178C>G (p.Asp726Glu) | |
| 3 | g.122284720C>T | CA435425415 | CASR | c.2535C>T (p.Asp845=) c.2796C>T (p.Asp932=) c.2766C>T (p.Asp922=) c.2283C>T (p.Asp761=) c.2178C>T (p.Asp726=) | ClinVar gnomAD v4 |
| 3 | g.122284722del | CA82749217 | CASR | c.2537del (p.Pro846HisfsTer16) c.2798del (p.Pro933HisfsTer16) c.2768del (p.Pro923HisfsTer16) c.2285del (p.Pro762HisfsTer16) c.2180del (p.Pro727HisfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284721C>A | CA354160723 | CASR | c.2536C>A (p.Pro846Thr) c.2797C>A (p.Pro933Thr) c.2767C>A (p.Pro923Thr) c.2284C>A (p.Pro762Thr) c.2179C>A (p.Pro727Thr) | |
| 3 | g.122284721C= | CA1397872885 | CASR | c.2536C= (p.Pro846=) c.2797C= (p.Pro933=) c.2767C= (p.Pro923=) c.2284C= (p.Pro762=) c.2179C= (p.Pro727=) | |
| 3 | g.122284721C>G | CA2569861 | CASR | c.2536C>G (p.Pro846Ala) c.2797C>G (p.Pro933Ala) c.2767C>G (p.Pro923Ala) c.2284C>G (p.Pro762Ala) c.2179C>G (p.Pro727Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284721C>T | CA354160724 | CASR | c.2536C>T (p.Pro846Ser) c.2797C>T (p.Pro933Ser) c.2767C>T (p.Pro923Ser) c.2284C>T (p.Pro762Ser) c.2179C>T (p.Pro727Ser) | |
| 3 | g.122284721_122284722delinsTT | CA645526044 | CASR | c.2536_2537delinsTT (p.Pro846Leu) c.2797_2798delinsTT (p.Pro933Leu) c.2767_2768delinsTT (p.Pro923Leu) c.2284_2285delinsTT (p.Pro762Leu) c.2179_2180delinsTT (p.Pro727Leu) | COSMIC |
| 3 | g.122284722C>A | CA354160725 | CASR | c.2537C>A (p.Pro846Gln) c.2798C>A (p.Pro933Gln) c.2768C>A (p.Pro923Gln) c.2285C>A (p.Pro762Gln) c.2180C>A (p.Pro727Gln) | |
| 3 | g.122284722C>G | CA354160726 | CASR | c.2537C>G (p.Pro846Arg) c.2798C>G (p.Pro933Arg) c.2768C>G (p.Pro923Arg) c.2285C>G (p.Pro762Arg) c.2180C>G (p.Pro727Arg) | |
| 3 | g.122284722C>T | CA354160727 | CASR | c.2537C>T (p.Pro846Leu) c.2798C>T (p.Pro933Leu) c.2768C>T (p.Pro923Leu) c.2285C>T (p.Pro762Leu) c.2180C>T (p.Pro727Leu) | COSMIC |
| 3 | g.122284724_122284731del | CA2695199266 | CASR | c.2539_2546del (p.Phe847AlafsTer?) c.2800_2807del (p.Phe934AlafsTer?) c.2770_2777del (p.Phe924AlafsTer?) c.2287_2294del (p.Phe763AlafsTer?) c.2182_2189del (p.Phe728AlafsTer?) | ClinVar |
| 3 | g.122284723A= | CA1397872886 | CASR | c.2538A= (p.Pro846=) c.2799A= (p.Pro933=) c.2769A= (p.Pro923=) c.2286A= (p.Pro762=) c.2181A= (p.Pro727=) | |
| 3 | g.122284723A>C | CA435425419 | CASR | c.2538A>C (p.Pro846=) c.2799A>C (p.Pro933=) c.2769A>C (p.Pro923=) c.2286A>C (p.Pro762=) c.2181A>C (p.Pro727=) | |
| 3 | g.122284723A>G | CA2569862 | CASR | c.2538A>G (p.Pro846=) c.2799A>G (p.Pro933=) c.2769A>G (p.Pro923=) c.2286A>G (p.Pro762=) c.2181A>G (p.Pro727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284723A>T | CA435425420 | CASR | c.2538A>T (p.Pro846=) c.2799A>T (p.Pro933=) c.2769A>T (p.Pro923=) c.2286A>T (p.Pro762=) c.2181A>T (p.Pro727=) | |
| 3 | g.122284724T>A | CA354160729 | CASR | c.2539T>A (p.Phe847Ile) c.2800T>A (p.Phe934Ile) c.2770T>A (p.Phe924Ile) c.2287T>A (p.Phe763Ile) c.2182T>A (p.Phe728Ile) | |
| 3 | g.122284724T>C | CA2569863 | CASR | c.2539T>C (p.Phe847Leu) c.2800T>C (p.Phe934Leu) c.2770T>C (p.Phe924Leu) c.2287T>C (p.Phe763Leu) c.2182T>C (p.Phe728Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284724T>G | CA354160728 | CASR | c.2539T>G (p.Phe847Val) c.2800T>G (p.Phe934Val) c.2770T>G (p.Phe924Val) c.2287T>G (p.Phe763Val) c.2182T>G (p.Phe728Val) | ClinVar |
| 3 | g.122284724T= | CA1397872889 | CASR | c.2539T= (p.Phe847=) c.2800T= (p.Phe934=) c.2770T= (p.Phe924=) c.2287T= (p.Phe763=) c.2182T= (p.Phe728=) | |
| 3 | g.122284725T>A | CA354160730 | CASR | c.2540T>A (p.Phe847Tyr) c.2801T>A (p.Phe934Tyr) c.2771T>A (p.Phe924Tyr) c.2288T>A (p.Phe763Tyr) c.2183T>A (p.Phe728Tyr) | |
| 3 | g.122284725T>C | CA82749231 | CASR | c.2540T>C (p.Phe847Ser) c.2801T>C (p.Phe934Ser) c.2771T>C (p.Phe924Ser) c.2288T>C (p.Phe763Ser) c.2183T>C (p.Phe728Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284725T>G | CA354160731 | CASR | c.2540T>G (p.Phe847Cys) c.2801T>G (p.Phe934Cys) c.2771T>G (p.Phe924Cys) c.2288T>G (p.Phe763Cys) c.2183T>G (p.Phe728Cys) | |
| 3 | g.122284725T= | CA1397872891 | CASR | c.2540T= (p.Phe847=) c.2801T= (p.Phe934=) c.2771T= (p.Phe924=) c.2288T= (p.Phe763=) c.2183T= (p.Phe728=) | |
| 3 | g.122284734_122284811dup | CA915941534 | CASR | c.2549_2626dup (p.Gln875_Gln876insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2810_2887dup (p.Gln962_Gln963insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2780_2857dup (p.Gln952_Gln953insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2297_2374dup (p.Gln791_Gln792insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2192_2269dup (p.Gln756_Gln757insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) | ClinVar dbSNP gnomAD v4 |