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.122284484_122284504del | CA2667224655 | CASR | c.2299_2319del (p.Ala767_Ala773del) c.2560_2580del (p.Ala854_Ala860del) c.2530_2550del (p.Ala844_Ala850del) c.2047_2067del (p.Ala683_Ala689del) c.1942_1962del (p.Ala648_Ala654del) | gnomAD v4 |
| 3 | g.122284487_122284499del | CA2573136466 | CASR | c.2302_2314del (p.Ser768TrpfsTer?) c.2563_2575del (p.Ser855TrpfsTer?) c.2533_2545del (p.Ser845TrpfsTer?) c.2050_2062del (p.Ser684TrpfsTer?) c.1945_1957del (p.Ser649TrpfsTer?) | ClinVar dbSNP |
| 3 | g.122284497T>A | CA354160236 | CASR | c.2312T>A (p.Leu771Ter) c.2573T>A (p.Leu858Ter) c.2543T>A (p.Leu848Ter) c.2060T>A (p.Leu687Ter) c.1955T>A (p.Leu652Ter) | |
| 3 | g.122284497T>C | CA354160237 | CASR | c.2312T>C (p.Leu771Ser) c.2573T>C (p.Leu858Ser) c.2543T>C (p.Leu848Ser) c.2060T>C (p.Leu687Ser) c.1955T>C (p.Leu652Ser) | |
| 3 | g.122284497T>G | CA354160238 | CASR | c.2312T>G (p.Leu771Trp) c.2573T>G (p.Leu858Trp) c.2543T>G (p.Leu848Trp) c.2060T>G (p.Leu687Trp) c.1955T>G (p.Leu652Trp) | |
| 3 | g.122284498G>A | CA435425330 | CASR | c.2313G>A (p.Leu771=) c.2574G>A (p.Leu858=) c.2544G>A (p.Leu848=) c.2061G>A (p.Leu687=) c.1956G>A (p.Leu652=) | |
| 3 | g.122284498G>C | CA354160240 | CASR | c.2313G>C (p.Leu771Phe) c.2574G>C (p.Leu858Phe) c.2544G>C (p.Leu848Phe) c.2061G>C (p.Leu687Phe) c.1956G>C (p.Leu652Phe) | |
| 3 | g.122284498G>T | CA354160242 | CASR | c.2313G>T (p.Leu771Phe) c.2574G>T (p.Leu858Phe) c.2544G>T (p.Leu848Phe) c.2061G>T (p.Leu687Phe) c.1956G>T (p.Leu652Phe) | |
| 3 | g.122284499C>A | CA354160244 | CASR | c.2314C>A (p.Leu772Met) c.2575C>A (p.Leu859Met) c.2545C>A (p.Leu849Met) c.2062C>A (p.Leu688Met) c.1957C>A (p.Leu653Met) | |
| 3 | g.122284499C>G | CA354160246 | CASR | c.2314C>G (p.Leu772Val) c.2575C>G (p.Leu859Val) c.2545C>G (p.Leu849Val) c.2062C>G (p.Leu688Val) c.1957C>G (p.Leu653Val) | |
| 3 | g.122284499C>T | CA435425331 | CASR | c.2314C>T (p.Leu772=) c.2575C>T (p.Leu859=) c.2545C>T (p.Leu849=) c.2062C>T (p.Leu688=) c.1957C>T (p.Leu653=) | ClinVar |
| 3 | g.122284500T>A | CA354160248 | CASR | c.2315T>A (p.Leu772Gln) c.2576T>A (p.Leu859Gln) c.2546T>A (p.Leu849Gln) c.2063T>A (p.Leu688Gln) c.1958T>A (p.Leu653Gln) | ClinVar gnomAD v4 |
| 3 | g.122284500T>C | CA354160250 | CASR | c.2315T>C (p.Leu772Pro) c.2576T>C (p.Leu859Pro) c.2546T>C (p.Leu849Pro) c.2063T>C (p.Leu688Pro) c.1958T>C (p.Leu653Pro) | ClinVar dbSNP |
| 3 | g.122284500T>G | CA354160251 | CASR | c.2315T>G (p.Leu772Arg) c.2576T>G (p.Leu859Arg) c.2546T>G (p.Leu849Arg) c.2063T>G (p.Leu688Arg) c.1958T>G (p.Leu653Arg) | |
| 3 | g.122284500T= | CA1397872472 | CASR | c.2315T= (p.Leu772=) c.2576T= (p.Leu859=) c.2546T= (p.Leu849=) c.2063T= (p.Leu688=) c.1958T= (p.Leu653=) | |
| 3 | g.122284501G>A | CA435425332 | CASR | c.2316G>A (p.Leu772=) c.2577G>A (p.Leu859=) c.2547G>A (p.Leu849=) c.2064G>A (p.Leu688=) c.1959G>A (p.Leu653=) | |
| 3 | g.122284501G>C | CA435425333 | CASR | c.2316G>C (p.Leu772=) c.2577G>C (p.Leu859=) c.2547G>C (p.Leu849=) c.2064G>C (p.Leu688=) c.1959G>C (p.Leu653=) | |
| 3 | g.122284501G>T | CA435425334 | CASR | c.2316G>T (p.Leu772=) c.2577G>T (p.Leu859=) c.2547G>T (p.Leu849=) c.2064G>T (p.Leu688=) c.1959G>T (p.Leu653=) | |
| 3 | g.122284502G>A | CA354160258 | CASR | c.2317G>A (p.Ala773Thr) c.2578G>A (p.Ala860Thr) c.2548G>A (p.Ala850Thr) c.2065G>A (p.Ala689Thr) c.1960G>A (p.Ala654Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284502G>C | CA354160256 | CASR | c.2317G>C (p.Ala773Pro) c.2578G>C (p.Ala860Pro) c.2548G>C (p.Ala850Pro) c.2065G>C (p.Ala689Pro) c.1960G>C (p.Ala654Pro) | |
| 3 | g.122284502G= | CA1397872480 | CASR | c.2317G= (p.Ala773=) c.2578G= (p.Ala860=) c.2548G= (p.Ala850=) c.2065G= (p.Ala689=) c.1960G= (p.Ala654=) | |
| 3 | g.122284502G>T | CA354160254 | CASR | c.2317G>T (p.Ala773Ser) c.2578G>T (p.Ala860Ser) c.2548G>T (p.Ala850Ser) c.2065G>T (p.Ala689Ser) c.1960G>T (p.Ala654Ser) | |
| 3 | g.122284503C>A | CA2569831 | CASR | c.2318C>A (p.Ala773Glu) c.2579C>A (p.Ala860Glu) c.2549C>A (p.Ala850Glu) c.2066C>A (p.Ala689Glu) c.1961C>A (p.Ala654Glu) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284503C= | CA1397872492 | CASR | c.2318C= (p.Ala773=) c.2579C= (p.Ala860=) c.2549C= (p.Ala850=) c.2066C= (p.Ala689=) c.1961C= (p.Ala654=) | |
| 3 | g.122284503C>G | CA354160262 | CASR | c.2318C>G (p.Ala773Gly) c.2579C>G (p.Ala860Gly) c.2549C>G (p.Ala850Gly) c.2066C>G (p.Ala689Gly) c.1961C>G (p.Ala654Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284503C>T | CA354160261 | CASR | c.2318C>T (p.Ala773Val) c.2579C>T (p.Ala860Val) c.2549C>T (p.Ala850Val) c.2066C>T (p.Ala689Val) c.1961C>T (p.Ala654Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284504G>A | CA82749034 | CASR | c.2319G>A (p.Ala773=) c.2580G>A (p.Ala860=) c.2550G>A (p.Ala850=) c.2067G>A (p.Ala689=) c.1962G>A (p.Ala654=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284504G>C | CA435425336 | CASR | c.2319G>C (p.Ala773=) c.2580G>C (p.Ala860=) c.2550G>C (p.Ala850=) c.2067G>C (p.Ala689=) c.1962G>C (p.Ala654=) | |
| 3 | g.122284504G= | CA1397872498 | CASR | c.2319G= (p.Ala773=) c.2580G= (p.Ala860=) c.2550G= (p.Ala850=) c.2067G= (p.Ala689=) c.1962G= (p.Ala654=) | |
| 3 | g.122284504G>T | CA435425335 | CASR | c.2319G>T (p.Ala773=) c.2580G>T (p.Ala860=) c.2550G>T (p.Ala850=) c.2067G>T (p.Ala689=) c.1962G>T (p.Ala654=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284504_122284505insCCAG | CA2586972872 | CASR | c.2319_2320insCCAG (p.Cys774ProfsTer?) c.2580_2581insCCAG (p.Cys861ProfsTer?) c.2550_2551insCCAG (p.Cys851ProfsTer?) c.2067_2068insCCAG (p.Cys690ProfsTer?) c.1962_1963insCCAG (p.Cys655ProfsTer?) | |
| 3 | g.122284505T>A | CA2569832 | CASR | c.2320T>A (p.Cys774Ser) c.2581T>A (p.Cys861Ser) c.2551T>A (p.Cys851Ser) c.2068T>A (p.Cys690Ser) c.1963T>A (p.Cys655Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284505T>C | CA354160265 | CASR | c.2320T>C (p.Cys774Arg) c.2581T>C (p.Cys861Arg) c.2551T>C (p.Cys851Arg) c.2068T>C (p.Cys690Arg) c.1963T>C (p.Cys655Arg) | |
| 3 | g.122284505T>G | CA354160266 | CASR | c.2320T>G (p.Cys774Gly) c.2581T>G (p.Cys861Gly) c.2551T>G (p.Cys851Gly) c.2068T>G (p.Cys690Gly) c.1963T>G (p.Cys655Gly) | COSMIC |
| 3 | g.122284505T= | CA1397872505 | CASR | c.2320T= (p.Cys774=) c.2581T= (p.Cys861=) c.2551T= (p.Cys851=) c.2068T= (p.Cys690=) c.1963T= (p.Cys655=) | |
| 3 | g.122284506G>A | CA354160267 | CASR | c.2321G>A (p.Cys774Tyr) c.2582G>A (p.Cys861Tyr) c.2552G>A (p.Cys851Tyr) c.2069G>A (p.Cys690Tyr) c.1964G>A (p.Cys655Tyr) | |
| 3 | g.122284506G>C | CA354160268 | CASR | c.2321G>C (p.Cys774Ser) c.2582G>C (p.Cys861Ser) c.2552G>C (p.Cys851Ser) c.2069G>C (p.Cys690Ser) c.1964G>C (p.Cys655Ser) | ClinVar dbSNP |
| 3 | g.122284506G>T | CA354160269 | CASR | c.2321G>T (p.Cys774Phe) c.2582G>T (p.Cys861Phe) c.2552G>T (p.Cys851Phe) c.2069G>T (p.Cys690Phe) c.1964G>T (p.Cys655Phe) | |
| 3 | g.122284507C>A | CA354160270 | CASR | c.2322C>A (p.Cys774Ter) c.2583C>A (p.Cys861Ter) c.2553C>A (p.Cys851Ter) c.2070C>A (p.Cys690Ter) c.1965C>A (p.Cys655Ter) | |
| 3 | g.122284507C>G | CA354160271 | CASR | c.2322C>G (p.Cys774Trp) c.2583C>G (p.Cys861Trp) c.2553C>G (p.Cys851Trp) c.2070C>G (p.Cys690Trp) c.1965C>G (p.Cys655Trp) | ClinVar |
| 3 | g.122284507C>T | CA435425337 | CASR | c.2322C>T (p.Cys774=) c.2583C>T (p.Cys861=) c.2553C>T (p.Cys851=) c.2070C>T (p.Cys690=) c.1965C>T (p.Cys655=) | |
| 3 | g.122284508A>C | CA354160272 | CASR | c.2323A>C (p.Ile775Leu) c.2584A>C (p.Ile862Leu) c.2554A>C (p.Ile852Leu) c.2071A>C (p.Ile691Leu) c.1966A>C (p.Ile656Leu) | gnomAD v4 |
| 3 | g.122284508A>G | CA354160273 | CASR | c.2323A>G (p.Ile775Val) c.2584A>G (p.Ile862Val) c.2554A>G (p.Ile852Val) c.2071A>G (p.Ile691Val) c.1966A>G (p.Ile656Val) | |
| 3 | g.122284508A>T | CA354160274 | CASR | c.2323A>T (p.Ile775Phe) c.2584A>T (p.Ile862Phe) c.2554A>T (p.Ile852Phe) c.2071A>T (p.Ile691Phe) c.1966A>T (p.Ile656Phe) | |
| 3 | g.122284509T>A | CA354160275 | CASR | c.2324T>A (p.Ile775Asn) c.2585T>A (p.Ile862Asn) c.2555T>A (p.Ile852Asn) c.2072T>A (p.Ile691Asn) c.1967T>A (p.Ile656Asn) | |
| 3 | g.122284509T>C | CA354160277 | CASR | c.2324T>C (p.Ile775Thr) c.2585T>C (p.Ile862Thr) c.2555T>C (p.Ile852Thr) c.2072T>C (p.Ile691Thr) c.1967T>C (p.Ile656Thr) | |
| 3 | g.122284509T>G | CA354160276 | CASR | c.2324T>G (p.Ile775Ser) c.2585T>G (p.Ile862Ser) c.2555T>G (p.Ile852Ser) c.2072T>G (p.Ile691Ser) c.1967T>G (p.Ile656Ser) | |
| 3 | g.122284510C>A | CA435425338 | CASR | c.2325C>A (p.Ile775=) c.2586C>A (p.Ile862=) c.2556C>A (p.Ile852=) c.2073C>A (p.Ile691=) c.1968C>A (p.Ile656=) | |
| 3 | g.122284510C= | CA1397872509 | CASR | c.2325C= (p.Ile775=) c.2586C= (p.Ile862=) c.2556C= (p.Ile852=) c.2073C= (p.Ile691=) c.1968C= (p.Ile656=) | |
| 3 | g.122284510C>G | CA354160278 | CASR | c.2325C>G (p.Ile775Met) c.2586C>G (p.Ile862Met) c.2556C>G (p.Ile852Met) c.2073C>G (p.Ile691Met) c.1968C>G (p.Ile656Met) |