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 |
|---|---|---|---|---|---|
| X | g.67711593_67711595del | CA2695234363 | AR | c.*425_*427del (n.*425_*427del) c.2077_2079del (p.Asn693del) c.704_706del (n.704_706del) c.481_483del (p.Asn161del) c.1507_1509del (p.Asn503del) | |
| X | g.67711593A>C | CA413423363 | AR | c.*425A>C (n.*425A>C) c.2077A>C (p.Asn693His) c.704A>C (n.704A>C) c.481A>C (p.Asn161His) c.1507A>C (p.Asn503His) | dbSNP |
| X | g.67711593A>G | CA413423362 | AR | c.*425A>G (n.*425A>G) c.2077A>G (p.Asn693Asp) c.704A>G (n.704A>G) c.481A>G (p.Asn161Asp) c.1507A>G (p.Asn503Asp) | dbSNP |
| X | g.67711593A>T | CA413423361 | AR | c.*425A>T (n.*425A>T) c.2077A>T (p.Asn693Tyr) c.704A>T (n.704A>T) c.481A>T (p.Asn161Tyr) c.1507A>T (p.Asn503Tyr) | |
| X | g.67711593_67711594insCCAA | CA2821614872 | AR | c.*425_*426insCCAA (n.*425_*426insCCAA) c.2077_2078insCCAA (p.Asn693ThrfsTer13) c.704_705insCCAA (n.704_705insCCAA) c.481_482insCCAA (p.Asn161ThrfsTer13) c.1507_1508insCCAA (p.Asn503ThrfsTer13) | |
| X | g.67711594A>C | CA413423364 | AR | c.*426A>C (n.*426A>C) c.2078A>C (p.Asn693Thr) c.705A>C (n.705A>C) c.482A>C (p.Asn161Thr) c.1508A>C (p.Asn503Thr) | |
| X | g.67711594A>G | CA413423365 | AR | c.*426A>G (n.*426A>G) c.2078A>G (p.Asn693Ser) c.705A>G (n.705A>G) c.482A>G (p.Asn161Ser) c.1508A>G (p.Asn503Ser) | gnomAD v4 |
| X | g.67711594A>T | CA413423366 | AR | c.*426A>T (n.*426A>T) c.2078A>T (p.Asn693Ile) c.705A>T (n.705A>T) c.482A>T (p.Asn161Ile) c.1508A>T (p.Asn503Ile) | ClinVar dbSNP |
| X | g.67711595C>A | CA413423367 | AR | c.*427C>A (n.*427C>A) c.2079C>A (p.Asn693Lys) c.706C>A (n.706C>A) c.483C>A (p.Asn161Lys) c.1509C>A (p.Asn503Lys) | dbSNP gnomAD v4 |
| X | g.67711595C>G | CA413423368 | AR | c.*427C>G (n.*427C>G) c.2079C>G (p.Asn693Lys) c.706C>G (n.706C>G) c.483C>G (p.Asn161Lys) c.1509C>G (p.Asn503Lys) | ClinVar dbSNP |
| X | g.67711595C>T | CA517048433 | AR | c.*427C>T (n.*427C>T) c.2079C>T (p.Asn693=) c.706C>T (n.706C>T) c.483C>T (p.Asn161=) c.1509C>T (p.Asn503=) | dbSNP gnomAD v4 |
| X | g.67711596del | CA2596116040 | AR | c.*428del (n.*428del) c.2080del (p.Gln694SerfsTer?) c.707del (n.707del) c.484del (p.Gln162SerfsTer?) c.1510del (p.Gln504SerfsTer?) | gnomAD v3 gnomAD v4 |
| X | g.67711595_67711596insACACCCAACA | CA2821614873 | AR | c.*427_*428insACACCCAACA (n.*427_*428insACACCCAACA) c.2079_2080insACACCCAACA (p.Gln694ThrfsTer14) c.706_707insACACCCAACA (n.706_707insACACCCAACA) c.483_484insACACCCAACA (p.Gln162ThrfsTer14) c.1509_1510insACACCCAACA (p.Gln504ThrfsTer14) | |
| X | g.67711596C>A | CA413423369 | AR | c.*428C>A (n.*428C>A) c.2080C>A (p.Gln694Lys) c.707C>A (n.707C>A) c.484C>A (p.Gln162Lys) c.1510C>A (p.Gln504Lys) | dbSNP |
| X | g.67711596C>G | CA413423370 | AR | c.*428C>G (n.*428C>G) c.2080C>G (p.Gln694Glu) c.707C>G (n.707C>G) c.484C>G (p.Gln162Glu) c.1510C>G (p.Gln504Glu) | dbSNP |
| X | g.67711596C>T | CA413423371 | AR | c.*428C>T (n.*428C>T) c.2080C>T (p.Gln694Ter) c.707C>T (n.707C>T) c.484C>T (p.Gln162Ter) c.1510C>T (p.Gln504Ter) | |
| X | g.67711597A>C | CA413423372 | AR | c.*429A>C (n.*429A>C) c.2081A>C (p.Gln694Pro) c.708A>C (n.708A>C) c.485A>C (p.Gln162Pro) c.1511A>C (p.Gln504Pro) | |
| X | g.67711597A>G | CA413423373 | AR | c.*429A>G (n.*429A>G) c.2081A>G (p.Gln694Arg) c.708A>G (n.708A>G) c.485A>G (p.Gln162Arg) c.1511A>G (p.Gln504Arg) | |
| X | g.67711597A>T | CA413423374 | AR | c.*429A>T (n.*429A>T) c.2081A>T (p.Gln694Leu) c.708A>T (n.708A>T) c.485A>T (p.Gln162Leu) c.1511A>T (p.Gln504Leu) | dbSNP |
| X | g.67711598G>A | CA10436573 | AR | c.*430G>A (n.*430G>A) c.2082G>A (p.Gln694=) c.709G>A (n.709G>A) c.486G>A (p.Gln162=) c.1512G>A (p.Gln504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711598G>C | CA330771347 | AR | c.*430G>C (n.*430G>C) c.2082G>C (p.Gln694His) c.709G>C (n.709G>C) c.486G>C (p.Gln162His) c.1512G>C (p.Gln504His) | dbSNP |
| X | g.67711598G= | CA2435130499 | AR | c.*430G= (n.*430G=) c.2082G= (p.Gln694=) c.709G= (n.709G=) c.486G= (p.Gln162=) c.1512G= (p.Gln504=) | |
| X | g.67711598G>T | CA413423375 | AR | c.*430G>T (n.*430G>T) c.2082G>T (p.Gln694His) c.709G>T (n.709G>T) c.486G>T (p.Gln162His) c.1512G>T (p.Gln504His) | |
| X | g.67711599C>A | CA413423377 | AR | c.*431C>A (n.*431C>A) c.2083C>A (p.Pro695Thr) c.710C>A (n.710C>A) c.487C>A (p.Pro163Thr) c.1513C>A (p.Pro505Thr) | dbSNP |
| X | g.67711599C= | CA2435130500 | AR | c.*431C= (n.*431C=) c.2083C= (p.Pro695=) c.710C= (n.710C=) c.487C= (p.Pro163=) c.1513C= (p.Pro505=) | |
| X | g.67711599C>G | CA413423376 | AR | c.*431C>G (n.*431C>G) c.2083C>G (p.Pro695Ala) c.710C>G (n.710C>G) c.487C>G (p.Pro163Ala) c.1513C>G (p.Pro505Ala) | dbSNP |
| X | g.67711599C>T | CA10436574 | AR | c.*431C>T (n.*431C>T) c.2083C>T (p.Pro695Ser) c.710C>T (n.710C>T) c.487C>T (p.Pro163Ser) c.1513C>T (p.Pro505Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711600C>A | CA413423378 | AR | c.*432C>A (n.*432C>A) c.2084C>A (p.Pro695His) c.711C>A (n.711C>A) c.488C>A (p.Pro163His) c.1514C>A (p.Pro505His) | dbSNP |
| X | g.67711600C>G | CA413423379 | AR | c.*432C>G (n.*432C>G) c.2084C>G (p.Pro695Arg) c.711C>G (n.711C>G) c.488C>G (p.Pro163Arg) c.1514C>G (p.Pro505Arg) | dbSNP |
| X | g.67711600C>T | CA413423380 | AR | c.*432C>T (n.*432C>T) c.2084C>T (p.Pro695Leu) c.711C>T (n.711C>T) c.488C>T (p.Pro163Leu) c.1514C>T (p.Pro505Leu) | dbSNP |
| X | g.67711601C>A | CA517048455 | AR | c.*433C>A (n.*433C>A) c.2085C>A (p.Pro695=) c.712C>A (n.712C>A) c.489C>A (p.Pro163=) c.1515C>A (p.Pro505=) | dbSNP |
| X | g.67711601C= | CA2435130501 | AR | c.*433C= (n.*433C=) c.2085C= (p.Pro695=) c.712C= (n.712C=) c.489C= (p.Pro163=) c.1515C= (p.Pro505=) | |
| X | g.67711601C>G | CA517048452 | AR | c.*433C>G (n.*433C>G) c.2085C>G (p.Pro695=) c.712C>G (n.712C>G) c.489C>G (p.Pro163=) c.1515C>G (p.Pro505=) | dbSNP |
| X | g.67711601C>T | CA10436575 | AR | c.*433C>T (n.*433C>T) c.2085C>T (p.Pro695=) c.712C>T (n.712C>T) c.489C>T (p.Pro163=) c.1515C>T (p.Pro505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711602G>A | CA413423381 | AR | c.*434G>A (n.*434G>A) c.2086G>A (p.Asp696Asn) c.713G>A (n.713G>A) c.490G>A (p.Asp164Asn) c.1516G>A (p.Asp506Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67711602G>C | CA413423382 | AR | c.*434G>C (n.*434G>C) c.2086G>C (p.Asp696His) c.713G>C (n.713G>C) c.490G>C (p.Asp164His) c.1516G>C (p.Asp506His) | dbSNP |
| X | g.67711602G= | CA2435130502 | AR | c.*434G= (n.*434G=) c.2086G= (p.Asp696=) c.713G= (n.713G=) c.490G= (p.Asp164=) c.1516G= (p.Asp506=) | |
| X | g.67711602G>T | CA413423383 | AR | c.*434G>T (n.*434G>T) c.2086G>T (p.Asp696Tyr) c.713G>T (n.713G>T) c.490G>T (p.Asp164Tyr) c.1516G>T (p.Asp506Tyr) | dbSNP |
| X | g.67711603A>C | CA413423386 | AR | c.*435A>C (n.*435A>C) c.2087A>C (p.Asp696Ala) c.714A>C (n.714A>C) c.491A>C (p.Asp164Ala) c.1517A>C (p.Asp506Ala) | dbSNP |
| X | g.67711603A>G | CA413423384 | AR | c.*435A>G (n.*435A>G) c.2087A>G (p.Asp696Gly) c.714A>G (n.714A>G) c.491A>G (p.Asp164Gly) c.1517A>G (p.Asp506Gly) | dbSNP |
| X | g.67711603A>T | CA413423385 | AR | c.*435A>T (n.*435A>T) c.2087A>T (p.Asp696Val) c.714A>T (n.714A>T) c.491A>T (p.Asp164Val) c.1517A>T (p.Asp506Val) | ClinVar dbSNP |
| X | g.67711604C>A | CA413423387 | AR | c.*436C>A (n.*436C>A) c.2088C>A (p.Asp696Glu) c.715C>A (n.715C>A) c.492C>A (p.Asp164Glu) c.1518C>A (p.Asp506Glu) | |
| X | g.67711604C= | CA2435130503 | AR | c.*436C= (n.*436C=) c.2088C= (p.Asp696=) c.715C= (n.715C=) c.492C= (p.Asp164=) c.1518C= (p.Asp506=) | |
| X | g.67711604C>G | CA413423388 | AR | c.*436C>G (n.*436C>G) c.2088C>G (p.Asp696Glu) c.715C>G (n.715C>G) c.492C>G (p.Asp164Glu) c.1518C>G (p.Asp506Glu) | |
| X | g.67711604C>T | CA517048466 | AR | c.*436C>T (n.*436C>T) c.2088C>T (p.Asp696=) c.715C>T (n.715C>T) c.492C>T (p.Asp164=) c.1518C>T (p.Asp506=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711605T>A | CA413423389 | AR | c.*437T>A (n.*437T>A) c.2089T>A (p.Ser697Thr) c.716T>A (n.716T>A) c.493T>A (p.Ser165Thr) c.1519T>A (p.Ser507Thr) | COSMIC COSMIC COSMIC |
| X | g.67711605T>C | CA413423390 | AR | c.*437T>C (n.*437T>C) c.2089T>C (p.Ser697Pro) c.716T>C (n.716T>C) c.493T>C (p.Ser165Pro) c.1519T>C (p.Ser507Pro) | |
| X | g.67711605T>G | CA413423391 | AR | c.*437T>G (n.*437T>G) c.2089T>G (p.Ser697Ala) c.716T>G (n.716T>G) c.493T>G (p.Ser165Ala) c.1519T>G (p.Ser507Ala) | |
| X | g.67711606C>A | CA413423392 | AR | c.*438C>A (n.*438C>A) c.2090C>A (p.Ser697Tyr) c.717C>A (n.717C>A) c.494C>A (p.Ser165Tyr) c.1520C>A (p.Ser507Tyr) | ClinVar dbSNP |
| X | g.67711606C= | CA2435130504 | AR | c.*438C= (n.*438C=) c.2090C= (p.Ser697=) c.717C= (n.717C=) c.494C= (p.Ser165=) c.1520C= (p.Ser507=) |