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.122284607_122284636del | CA2580068666 | CASR | c.2422_2451del (p.Ala808_Val817del) c.2683_2712del (p.Ala895_Val904del) c.2653_2682del (p.Ala885_Val894del) c.2170_2199del (p.Ala724_Val733del) c.2065_2094del (p.Ala689_Val698del) | ClinVar dbSNP |
| 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.122284636del | CA2586972875 | CASR | c.2451del (p.Ser818ProfsTer?) c.2712del (p.Ser905ProfsTer?) c.2682del (p.Ser895ProfsTer?) c.2199del (p.Ser734ProfsTer?) c.2094del (p.Ser699ProfsTer?) | |
| 3 | g.122284636C>A | CA435425459 | CASR | c.2451C>A (p.Val817=) c.2712C>A (p.Val904=) c.2682C>A (p.Val894=) c.2199C>A (p.Val733=) c.2094C>A (p.Val698=) | |
| 3 | g.122284636C>G | CA435425460 | CASR | c.2451C>G (p.Val817=) c.2712C>G (p.Val904=) c.2682C>G (p.Val894=) c.2199C>G (p.Val733=) c.2094C>G (p.Val698=) | gnomAD v4 |
| 3 | g.122284636C>T | CA435425461 | CASR | c.2451C>T (p.Val817=) c.2712C>T (p.Val904=) c.2682C>T (p.Val894=) c.2199C>T (p.Val733=) c.2094C>T (p.Val698=) | COSMIC |
| 3 | g.122284637T>A | CA354160551 | CASR | c.2452T>A (p.Ser818Thr) c.2713T>A (p.Ser905Thr) c.2683T>A (p.Ser895Thr) c.2200T>A (p.Ser734Thr) c.2095T>A (p.Ser699Thr) | |
| 3 | g.122284637T>C | CA354160552 | CASR | c.2452T>C (p.Ser818Pro) c.2713T>C (p.Ser905Pro) c.2683T>C (p.Ser895Pro) c.2200T>C (p.Ser734Pro) c.2095T>C (p.Ser699Pro) | dbSNP gnomAD v2 |
| 3 | g.122284637T>G | CA354160553 | CASR | c.2452T>G (p.Ser818Ala) c.2713T>G (p.Ser905Ala) c.2683T>G (p.Ser895Ala) c.2200T>G (p.Ser734Ala) c.2095T>G (p.Ser699Ala) | |
| 3 | g.122284637T= | CA1397872810 | CASR | c.2452T= (p.Ser818=) c.2713T= (p.Ser905=) c.2683T= (p.Ser895=) c.2200T= (p.Ser734=) c.2095T= (p.Ser699=) | |
| 3 | g.122284637_122284638delinsTC | CA1397872808 | CASR | c.2452_2453delinsTC (p.Ser818=) c.2713_2714delinsTC (p.Ser905=) c.2683_2684delinsTC (p.Ser895=) c.2200_2201delinsTC (p.Ser734=) c.2095_2096delinsTC (p.Ser699=) | |
| 3 | g.122284638C>A | CA354160554 | CASR | c.2453C>A (p.Ser818Tyr) c.2714C>A (p.Ser905Tyr) c.2684C>A (p.Ser895Tyr) c.2201C>A (p.Ser734Tyr) c.2096C>A (p.Ser699Tyr) | |
| 3 | g.122284638C= | CA1397872812 | CASR | c.2453C= (p.Ser818=) c.2714C= (p.Ser905=) c.2684C= (p.Ser895=) c.2201C= (p.Ser734=) c.2096C= (p.Ser699=) | |
| 3 | g.122284638C>G | CA354160555 | CASR | c.2453C>G (p.Ser818Cys) c.2714C>G (p.Ser905Cys) c.2684C>G (p.Ser895Cys) c.2201C>G (p.Ser734Cys) c.2096C>G (p.Ser699Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284638C>T | CA354160556 | CASR | c.2453C>T (p.Ser818Phe) c.2714C>T (p.Ser905Phe) c.2684C>T (p.Ser895Phe) c.2201C>T (p.Ser734Phe) c.2096C>T (p.Ser699Phe) | |
| 3 | g.122284640del | CA213592 | CASR | c.2455del (p.Arg819AlafsTer?) c.2716del (p.Arg906AlafsTer?) c.2686del (p.Arg896AlafsTer?) c.2203del (p.Arg735AlafsTer?) c.2098del (p.Arg700AlafsTer?) | ClinVar dbSNP |
| 3 | g.122284639C>A | CA435425462 | CASR | c.2454C>A (p.Ser818=) c.2715C>A (p.Ser905=) c.2685C>A (p.Ser895=) c.2202C>A (p.Ser734=) c.2097C>A (p.Ser699=) | |
| 3 | g.122284639C>G | CA435425463 | CASR | c.2454C>G (p.Ser818=) c.2715C>G (p.Ser905=) c.2685C>G (p.Ser895=) c.2202C>G (p.Ser734=) c.2097C>G (p.Ser699=) | |
| 3 | g.122284639C>T | CA435425464 | CASR | c.2454C>T (p.Ser818=) c.2715C>T (p.Ser905=) c.2685C>T (p.Ser895=) c.2202C>T (p.Ser734=) c.2097C>T (p.Ser699=) | ClinVar COSMIC |
| 3 | g.122284640C>A | CA354160557 | CASR | c.2455C>A (p.Arg819Ser) c.2716C>A (p.Arg906Ser) c.2686C>A (p.Arg896Ser) c.2203C>A (p.Arg735Ser) c.2098C>A (p.Arg700Ser) | |
| 3 | g.122284640C= | CA1397872816 | CASR | c.2455C= (p.Arg819=) c.2716C= (p.Arg906=) c.2686C= (p.Arg896=) c.2203C= (p.Arg735=) c.2098C= (p.Arg700=) | |
| 3 | g.122284640C>G | CA2569846 | CASR | c.2455C>G (p.Arg819Gly) c.2716C>G (p.Arg906Gly) c.2686C>G (p.Arg896Gly) c.2203C>G (p.Arg735Gly) c.2098C>G (p.Arg700Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284640C>T | CA2569847 | CASR | c.2455C>T (p.Arg819Cys) c.2716C>T (p.Arg906Cys) c.2686C>T (p.Arg896Cys) c.2203C>T (p.Arg735Cys) c.2098C>T (p.Arg700Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284641G>A | CA16611132 | CASR | c.2456G>A (p.Arg819His) c.2717G>A (p.Arg906His) c.2687G>A (p.Arg896His) c.2204G>A (p.Arg735His) c.2099G>A (p.Arg700His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284641G>C | CA354160558 | CASR | c.2456G>C (p.Arg819Pro) c.2717G>C (p.Arg906Pro) c.2687G>C (p.Arg896Pro) c.2204G>C (p.Arg735Pro) c.2099G>C (p.Arg700Pro) | |
| 3 | g.122284641G= | CA1397872818 | CASR | c.2456G= (p.Arg819=) c.2717G= (p.Arg906=) c.2687G= (p.Arg896=) c.2204G= (p.Arg735=) c.2099G= (p.Arg700=) | |
| 3 | g.122284641G>T | CA2569848 | CASR | c.2456G>T (p.Arg819Leu) c.2717G>T (p.Arg906Leu) c.2687G>T (p.Arg896Leu) c.2204G>T (p.Arg735Leu) c.2099G>T (p.Arg700Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284642C>A | CA82749164 | CASR | c.2457C>A (p.Arg819=) c.2718C>A (p.Arg906=) c.2688C>A (p.Arg896=) c.2205C>A (p.Arg735=) c.2100C>A (p.Arg700=) | ClinVar dbSNP |
| 3 | g.122284642C= | CA1397872821 | CASR | c.2457C= (p.Arg819=) c.2718C= (p.Arg906=) c.2688C= (p.Arg896=) c.2205C= (p.Arg735=) c.2100C= (p.Arg700=) | |
| 3 | g.122284642C>G | CA435425470 | CASR | c.2457C>G (p.Arg819=) c.2718C>G (p.Arg906=) c.2688C>G (p.Arg896=) c.2205C>G (p.Arg735=) c.2100C>G (p.Arg700=) | |
| 3 | g.122284642C>T | CA435425469 | CASR | c.2457C>T (p.Arg819=) c.2718C>T (p.Arg906=) c.2688C>T (p.Arg896=) c.2205C>T (p.Arg735=) c.2100C>T (p.Arg700=) | |
| 3 | g.122284643A>C | CA354160561 | CASR | c.2458A>C (p.Lys820Gln) c.2719A>C (p.Lys907Gln) c.2689A>C (p.Lys897Gln) c.2206A>C (p.Lys736Gln) c.2101A>C (p.Lys701Gln) | |
| 3 | g.122284643A>G | CA354160560 | CASR | c.2458A>G (p.Lys820Glu) c.2719A>G (p.Lys907Glu) c.2689A>G (p.Lys897Glu) c.2206A>G (p.Lys736Glu) c.2101A>G (p.Lys701Glu) | |
| 3 | g.122284643A>T | CA354160559 | CASR | c.2458A>T (p.Lys820Ter) c.2719A>T (p.Lys907Ter) c.2689A>T (p.Lys897Ter) c.2206A>T (p.Lys736Ter) c.2101A>T (p.Lys701Ter) | |
| 3 | g.122284644A= | CA1397872823 | CASR | c.2459A= (p.Lys820=) c.2720A= (p.Lys907=) c.2690A= (p.Lys897=) c.2207A= (p.Lys736=) c.2102A= (p.Lys701=) | |
| 3 | g.122284644A>C | CA354160562 | CASR | c.2459A>C (p.Lys820Thr) c.2720A>C (p.Lys907Thr) c.2690A>C (p.Lys897Thr) c.2207A>C (p.Lys736Thr) c.2102A>C (p.Lys701Thr) | |
| 3 | g.122284644A>G | CA82749167 | CASR | c.2459A>G (p.Lys820Arg) c.2720A>G (p.Lys907Arg) c.2690A>G (p.Lys897Arg) c.2207A>G (p.Lys736Arg) c.2102A>G (p.Lys701Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284644A>T | CA354160563 | CASR | c.2459A>T (p.Lys820Met) c.2720A>T (p.Lys907Met) c.2690A>T (p.Lys897Met) c.2207A>T (p.Lys736Met) c.2102A>T (p.Lys701Met) | |
| 3 | g.122284645G>A | CA435425474 | CASR | c.2460G>A (p.Lys820=) c.2721G>A (p.Lys907=) c.2691G>A (p.Lys897=) c.2208G>A (p.Lys736=) c.2103G>A (p.Lys701=) | |
| 3 | g.122284645G>C | CA354160564 | CASR | c.2460G>C (p.Lys820Asn) c.2721G>C (p.Lys907Asn) c.2691G>C (p.Lys897Asn) c.2208G>C (p.Lys736Asn) c.2103G>C (p.Lys701Asn) | |
| 3 | g.122284645G>T | CA354160565 | CASR | c.2460G>T (p.Lys820Asn) c.2721G>T (p.Lys907Asn) c.2691G>T (p.Lys897Asn) c.2208G>T (p.Lys736Asn) c.2103G>T (p.Lys701Asn) | |
| 3 | g.122284645dup | CA2586972876 | CASR | c.2460dup (p.Arg821AlafsTer?) c.2721dup (p.Arg908AlafsTer?) c.2691dup (p.Arg898AlafsTer?) c.2208dup (p.Arg737AlafsTer?) c.2103dup (p.Arg702AlafsTer?) | |
| 3 | g.122284646C>A | CA2569849 | CASR | c.2461C>A (p.Arg821=) c.2722C>A (p.Arg908=) c.2692C>A (p.Arg898=) c.2209C>A (p.Arg737=) c.2104C>A (p.Arg702=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284646C= | CA1397872825 | CASR | c.2461C= (p.Arg821=) c.2722C= (p.Arg908=) c.2692C= (p.Arg898=) c.2209C= (p.Arg737=) c.2104C= (p.Arg702=) | |
| 3 | g.122284646C>G | CA354160566 | CASR | c.2461C>G (p.Arg821Gly) c.2722C>G (p.Arg908Gly) c.2692C>G (p.Arg898Gly) c.2209C>G (p.Arg737Gly) c.2104C>G (p.Arg702Gly) | |
| 3 | g.122284646C>T | CA354160567 | CASR | c.2461C>T (p.Arg821Trp) c.2722C>T (p.Arg908Trp) c.2692C>T (p.Arg898Trp) c.2209C>T (p.Arg737Trp) c.2104C>T (p.Arg702Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284647G>A | CA119549 | CASR | c.2462G>A (p.Arg821Gln) c.2723G>A (p.Arg908Gln) c.2693G>A (p.Arg898Gln) c.2210G>A (p.Arg737Gln) c.2105G>A (p.Arg702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284647G>C | CA354160568 | CASR | c.2462G>C (p.Arg821Pro) c.2723G>C (p.Arg908Pro) c.2693G>C (p.Arg898Pro) c.2210G>C (p.Arg737Pro) c.2105G>C (p.Arg702Pro) | |
| 3 | g.122284647G= | CA1397872827 | CASR | c.2462G= (p.Arg821=) c.2723G= (p.Arg908=) c.2693G= (p.Arg898=) c.2210G= (p.Arg737=) c.2105G= (p.Arg702=) |