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.67711552_67711570delinsAAGCCATTGAGCCAGGTGT | CA2435130483 | AR | c.*384_*402delinsAAGCCATTGAGCCAGGTGT (n.*384_*402delinsAAGCCATTGAGCCAGGTGT) c.2036_2054delinsAAGCCATTGAGCCAGGTGT (p.Glu679=) c.663_681delinsAAGCCATTGAGCCAGGTGT (n.663_681delinsAAGCCATTGAGCCAGGTGT) c.440_458delinsAAGCCATTGAGCCAGGTGT (p.Glu147=) c.1466_1484delinsAAGCCATTGAGCCAGGTGT (p.Glu489=) | |
| X | g.67711553A= | CA2435130484 | AR | c.*385A= (n.*385A=) c.2037A= (p.Glu679=) c.664A= (n.664A=) c.441A= (p.Glu147=) c.1467A= (p.Glu489=) | |
| X | g.67711553A>C | CA413423275 | AR | c.*385A>C (n.*385A>C) c.2037A>C (p.Glu679Asp) c.664A>C (n.664A>C) c.441A>C (p.Glu147Asp) c.1467A>C (p.Glu489Asp) | ClinVar dbSNP |
| X | g.67711553A>G | CA517048350 | AR | c.*385A>G (n.*385A>G) c.2037A>G (p.Glu679=) c.664A>G (n.664A>G) c.441A>G (p.Glu147=) c.1467A>G (p.Glu489=) | dbSNP |
| X | g.67711553A>T | CA413423276 | AR | c.*385A>T (n.*385A>T) c.2037A>T (p.Glu679Asp) c.664A>T (n.664A>T) c.441A>T (p.Glu147Asp) c.1467A>T (p.Glu489Asp) | dbSNP |
| X | g.67711555_67711572del | CA16043328 | AR | c.*387_*404del (n.*387_*404del) c.2039_2056del (p.Ala680_Val685del) c.666_683del (n.666_683del) c.443_460del (p.Ala148_Val153del) c.1469_1486del (p.Ala490_Val495del) | ClinVar dbSNP |
| X | g.67711554G>A | CA413423277 | AR | c.*386G>A (n.*386G>A) c.2038G>A (p.Ala680Thr) c.665G>A (n.665G>A) c.442G>A (p.Ala148Thr) c.1468G>A (p.Ala490Thr) | dbSNP |
| X | g.67711554G>C | CA413423278 | AR | c.*386G>C (n.*386G>C) c.2038G>C (p.Ala680Pro) c.665G>C (n.665G>C) c.442G>C (p.Ala148Pro) c.1468G>C (p.Ala490Pro) | dbSNP |
| X | g.67711554G>T | CA413423279 | AR | c.*386G>T (n.*386G>T) c.2038G>T (p.Ala680Ser) c.665G>T (n.665G>T) c.442G>T (p.Ala148Ser) c.1468G>T (p.Ala490Ser) | |
| X | g.67711555C>A | CA413423280 | AR | c.*387C>A (n.*387C>A) c.2039C>A (p.Ala680Asp) c.666C>A (n.666C>A) c.443C>A (p.Ala148Asp) c.1469C>A (p.Ala490Asp) | |
| X | g.67711555C= | CA2435130485 | AR | c.*387C= (n.*387C=) c.2039C= (p.Ala680=) c.666C= (n.666C=) c.443C= (p.Ala148=) c.1469C= (p.Ala490=) | |
| X | g.67711555C>G | CA10436569 | AR | c.*387C>G (n.*387C>G) c.2039C>G (p.Ala680Gly) c.666C>G (n.666C>G) c.443C>G (p.Ala148Gly) c.1469C>G (p.Ala490Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711555C>T | CA10436568 | AR | c.*387C>T (n.*387C>T) c.2039C>T (p.Ala680Val) c.666C>T (n.666C>T) c.443C>T (p.Ala148Val) c.1469C>T (p.Ala490Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711556C>A | CA517048352 | AR | c.*388C>A (n.*388C>A) c.2040C>A (p.Ala680=) c.667C>A (n.667C>A) c.444C>A (p.Ala148=) c.1470C>A (p.Ala490=) | dbSNP |
| X | g.67711556C>G | CA517048355 | AR | c.*388C>G (n.*388C>G) c.2040C>G (p.Ala680=) c.667C>G (n.667C>G) c.444C>G (p.Ala148=) c.1470C>G (p.Ala490=) | dbSNP |
| X | g.67711556C>T | CA517048357 | AR | c.*388C>T (n.*388C>T) c.2040C>T (p.Ala680=) c.667C>T (n.667C>T) c.444C>T (p.Ala148=) c.1470C>T (p.Ala490=) | |
| X | g.67711557A>C | CA413423281 | AR | c.*389A>C (n.*389A>C) c.2041A>C (p.Ile681Leu) c.668A>C (n.668A>C) c.445A>C (p.Ile149Leu) c.1471A>C (p.Ile491Leu) | dbSNP |
| X | g.67711557A>G | CA413423282 | AR | c.*389A>G (n.*389A>G) c.2041A>G (p.Ile681Val) c.668A>G (n.668A>G) c.445A>G (p.Ile149Val) c.1471A>G (p.Ile491Val) | dbSNP |
| X | g.67711557A>T | CA413423283 | AR | c.*389A>T (n.*389A>T) c.2041A>T (p.Ile681Phe) c.668A>T (n.668A>T) c.445A>T (p.Ile149Phe) c.1471A>T (p.Ile491Phe) | dbSNP |
| X | g.67711558T>A | CA413423286 | AR | c.*390T>A (n.*390T>A) c.2042T>A (p.Ile681Asn) c.669T>A (n.669T>A) c.446T>A (p.Ile149Asn) c.1472T>A (p.Ile491Asn) | ClinVar dbSNP |
| X | g.67711558T>C | CA413423285 | AR | c.*390T>C (n.*390T>C) c.2042T>C (p.Ile681Thr) c.669T>C (n.669T>C) c.446T>C (p.Ile149Thr) c.1472T>C (p.Ile491Thr) | ClinVar dbSNP |
| X | g.67711558T>G | CA413423284 | AR | c.*390T>G (n.*390T>G) c.2042T>G (p.Ile681Ser) c.669T>G (n.669T>G) c.446T>G (p.Ile149Ser) c.1472T>G (p.Ile491Ser) | dbSNP |
| X | g.67711558T= | CA2435130486 | AR | c.*390T= (n.*390T=) c.2042T= (p.Ile681=) c.669T= (n.669T=) c.446T= (p.Ile149=) c.1472T= (p.Ile491=) | |
| X | g.67711559T>A | CA517048358 | AR | c.*391T>A (n.*391T>A) c.2043T>A (p.Ile681=) c.670T>A (n.670T>A) c.447T>A (p.Ile149=) c.1473T>A (p.Ile491=) | dbSNP |
| X | g.67711559T>C | CA517048359 | AR | c.*391T>C (n.*391T>C) c.2043T>C (p.Ile681=) c.670T>C (n.670T>C) c.447T>C (p.Ile149=) c.1473T>C (p.Ile491=) | dbSNP |
| X | g.67711559T>G | CA413423287 | AR | c.*391T>G (n.*391T>G) c.2043T>G (p.Ile681Met) c.670T>G (n.670T>G) c.447T>G (p.Ile149Met) c.1473T>G (p.Ile491Met) | dbSNP |
| X | g.67711560G>A | CA413423290 | AR | c.*392G>A (n.*392G>A) c.2044G>A (p.Glu682Lys) c.671G>A (n.671G>A) c.448G>A (p.Glu150Lys) c.1474G>A (p.Glu492Lys) | ClinVar dbSNP COSMIC |
| X | g.67711560G>C | CA413423288 | AR | c.*392G>C (n.*392G>C) c.2044G>C (p.Glu682Gln) c.671G>C (n.671G>C) c.448G>C (p.Glu150Gln) c.1474G>C (p.Glu492Gln) | dbSNP |
| X | g.67711560G= | CA2435130487 | AR | c.*392G= (n.*392G=) c.2044G= (p.Glu682=) c.671G= (n.671G=) c.448G= (p.Glu150=) c.1474G= (p.Glu492=) | |
| X | g.67711560G>T | CA413423289 | AR | c.*392G>T (n.*392G>T) c.2044G>T (p.Glu682Ter) c.671G>T (n.671G>T) c.448G>T (p.Glu150Ter) c.1474G>T (p.Glu492Ter) | dbSNP |
| X | g.67711561A>C | CA413423291 | AR | c.*393A>C (n.*393A>C) c.2045A>C (p.Glu682Ala) c.672A>C (n.672A>C) c.449A>C (p.Glu150Ala) c.1475A>C (p.Glu492Ala) | |
| X | g.67711561A>G | CA413423292 | AR | c.*393A>G (n.*393A>G) c.2045A>G (p.Glu682Gly) c.672A>G (n.672A>G) c.449A>G (p.Glu150Gly) c.1475A>G (p.Glu492Gly) | dbSNP |
| X | g.67711561A>T | CA413423293 | AR | c.*393A>T (n.*393A>T) c.2045A>T (p.Glu682Val) c.672A>T (n.672A>T) c.449A>T (p.Glu150Val) c.1475A>T (p.Glu492Val) | dbSNP |
| X | g.67711562G>A | CA517048366 | AR | c.*394G>A (n.*394G>A) c.2046G>A (p.Glu682=) c.673G>A (n.673G>A) c.450G>A (p.Glu150=) c.1476G>A (p.Glu492=) | dbSNP gnomAD v4 |
| X | g.67711562G>C | CA413423294 | AR | c.*394G>C (n.*394G>C) c.2046G>C (p.Glu682Asp) c.673G>C (n.673G>C) c.450G>C (p.Glu150Asp) c.1476G>C (p.Glu492Asp) | |
| X | g.67711562G>T | CA413423295 | AR | c.*394G>T (n.*394G>T) c.2046G>T (p.Glu682Asp) c.673G>T (n.673G>T) c.450G>T (p.Glu150Asp) c.1476G>T (p.Glu492Asp) | COSMIC COSMIC COSMIC |
| X | g.67711563C>A | CA413423296 | AR | c.*395C>A (n.*395C>A) c.2047C>A (p.Pro683Thr) c.674C>A (n.674C>A) c.451C>A (p.Pro151Thr) c.1477C>A (p.Pro493Thr) | dbSNP |
| X | g.67711563C= | CA2435130488 | AR | c.*395C= (n.*395C=) c.2047C= (p.Pro683=) c.674C= (n.674C=) c.451C= (p.Pro151=) c.1477C= (p.Pro493=) | |
| X | g.67711563C>G | CA413423297 | AR | c.*395C>G (n.*395C>G) c.2047C>G (p.Pro683Ala) c.674C>G (n.674C>G) c.451C>G (p.Pro151Ala) c.1477C>G (p.Pro493Ala) | dbSNP |
| X | g.67711563C>T | CA413423298 | AR | c.*395C>T (n.*395C>T) c.2047C>T (p.Pro683Ser) c.674C>T (n.674C>T) c.451C>T (p.Pro151Ser) c.1477C>T (p.Pro493Ser) | ClinVar dbSNP |
| X | g.67711564C>A | CA413423299 | AR | c.*396C>A (n.*396C>A) c.2048C>A (p.Pro683Gln) c.675C>A (n.675C>A) c.452C>A (p.Pro151Gln) c.1478C>A (p.Pro493Gln) | dbSNP |
| X | g.67711564C>G | CA413423300 | AR | c.*396C>G (n.*396C>G) c.2048C>G (p.Pro683Arg) c.675C>G (n.675C>G) c.452C>G (p.Pro151Arg) c.1478C>G (p.Pro493Arg) | dbSNP |
| X | g.67711564C>T | CA413423301 | AR | c.*396C>T (n.*396C>T) c.2048C>T (p.Pro683Leu) c.675C>T (n.675C>T) c.452C>T (p.Pro151Leu) c.1478C>T (p.Pro493Leu) | dbSNP |
| X | g.67711565A>C | CA517048367 | AR | c.*397A>C (n.*397A>C) c.2049A>C (p.Pro683=) c.676A>C (n.676A>C) c.453A>C (p.Pro151=) c.1479A>C (p.Pro493=) | |
| X | g.67711565A>G | CA517048370 | AR | c.*397A>G (n.*397A>G) c.2049A>G (p.Pro683=) c.676A>G (n.676A>G) c.453A>G (p.Pro151=) c.1479A>G (p.Pro493=) | dbSNP |
| X | g.67711565A>T | CA517048371 | AR | c.*397A>T (n.*397A>T) c.2049A>T (p.Pro683=) c.676A>T (n.676A>T) c.453A>T (p.Pro151=) c.1479A>T (p.Pro493=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711566G>A | CA330771345 | AR | c.*398G>A (n.*398G>A) c.2050G>A (p.Gly684Ser) c.677G>A (n.677G>A) c.454G>A (p.Gly152Ser) c.1480G>A (p.Gly494Ser) | dbSNP |
| X | g.67711566G>C | CA413423303 | AR | c.*398G>C (n.*398G>C) c.2050G>C (p.Gly684Arg) c.677G>C (n.677G>C) c.454G>C (p.Gly152Arg) c.1480G>C (p.Gly494Arg) | dbSNP |
| X | g.67711566G= | CA2435130489 | AR | c.*398G= (n.*398G=) c.2050G= (p.Gly684=) c.677G= (n.677G=) c.454G= (p.Gly152=) c.1480G= (p.Gly494=) | |
| X | g.67711566G>T | CA413423302 | AR | c.*398G>T (n.*398G>T) c.2050G>T (p.Gly684Cys) c.677G>T (n.677G>T) c.454G>T (p.Gly152Cys) c.1480G>T (p.Gly494Cys) | dbSNP |