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 |
|---|---|---|---|---|---|
| 22 | g.50627246C>A | CA412180654 | ARSA | c.385G>T (p.Gly129Trp) c.127G>T (p.Gly43Trp) n.776G>T | |
| 22 | g.50627246C= | CA2410959507 | ARSA | c.385G= (p.Gly129=) c.127G= (p.Gly43=) n.776G= | |
| 22 | g.50627246C>G | CA412180656 | ARSA | c.385G>C (p.Gly129Arg) c.127G>C (p.Gly43Arg) n.776G>C | |
| 22 | g.50627246C>T | CA10325043 | ARSA | c.385G>A (p.Gly129Arg) c.127G>A (p.Gly43Arg) n.776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627247A>C | CA515391476 | ARSA | c.384T>G (p.Leu128=) c.126T>G (p.Leu42=) n.775T>G | |
| 22 | g.50627247A>G | CA515391475 | ARSA | c.384T>C (p.Leu128=) c.126T>C (p.Leu42=) n.775T>C | |
| 22 | g.50627247A>T | CA515391474 | ARSA | c.384T>A (p.Leu128=) c.126T>A (p.Leu42=) n.775T>A | |
| 22 | g.50627247_50627257del | CA2657593856 | ARSA | c.374_384del (p.Lys125ArgfsTer5) c.116_126del (p.Lys39ArgfsTer5) n.765_775del | gnomAD v4 |
| 22 | g.50627248A= | CA2410959508 | ARSA | c.383T= (p.Leu128=) c.125T= (p.Leu42=) n.774T= | |
| 22 | g.50627248A>C | CA412180668 | ARSA | c.383T>G (p.Leu128Arg) c.125T>G (p.Leu42Arg) n.774T>G | dbSNP |
| 22 | g.50627248A>G | CA412180671 | ARSA | c.383T>C (p.Leu128Pro) c.125T>C (p.Leu42Pro) n.774T>C | |
| 22 | g.50627248A>T | CA412180685 | ARSA | c.383T>A (p.Leu128His) c.125T>A (p.Leu42His) n.774T>A | |
| 22 | g.50627249G>A | CA412180691 | ARSA | c.382C>T (p.Leu128Phe) c.124C>T (p.Leu42Phe) n.773C>T | |
| 22 | g.50627249G>C | CA412180697 | ARSA | c.382C>G (p.Leu128Val) c.124C>G (p.Leu42Val) n.773C>G | |
| 22 | g.50627249G>T | CA412180696 | ARSA | c.382C>A (p.Leu128Ile) c.124C>A (p.Leu42Ile) n.773C>A | |
| 22 | g.50627250G>A | CA515391480 | ARSA | c.381C>T (p.His127=) c.123C>T (p.His41=) n.772C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627250G>C | CA412180700 | ARSA | c.381C>G (p.His127Gln) c.123C>G (p.His41Gln) n.772C>G | |
| 22 | g.50627250G= | CA2410959509 | ARSA | c.381C= (p.His127=) c.123C= (p.His41=) n.772C= | |
| 22 | g.50627250G>T | CA412180701 | ARSA | c.381C>A (p.His127Gln) c.123C>A (p.His41Gln) n.772C>A | |
| 22 | g.50627251T>A | CA412180704 | ARSA | c.380A>T (p.His127Leu) c.122A>T (p.His41Leu) n.771A>T | |
| 22 | g.50627251T>C | CA412180706 | ARSA | c.380A>G (p.His127Arg) c.122A>G (p.His41Arg) n.771A>G | |
| 22 | g.50627251T>G | CA412180707 | ARSA | c.380A>C (p.His127Pro) c.122A>C (p.His41Pro) n.771A>C | |
| 22 | g.50627252G>A | CA412180708 | ARSA | c.379C>T (p.His127Tyr) c.121C>T (p.His41Tyr) n.770C>T | |
| 22 | g.50627252G>C | CA412180709 | ARSA | c.379C>G (p.His127Asp) c.121C>G (p.His41Asp) n.770C>G | |
| 22 | g.50627252G>T | CA412180712 | ARSA | c.379C>A (p.His127Asn) c.121C>A (p.His41Asn) n.770C>A | |
| 22 | g.50627253C>A | CA412180715 | ARSA | c.378G>T (p.Trp126Cys) c.120G>T (p.Trp40Cys) n.769G>T | |
| 22 | g.50627253C= | CA2410959510 | ARSA | c.378G= (p.Trp126=) c.120G= (p.Trp40=) n.769G= | |
| 22 | g.50627253C>G | CA412180718 | ARSA | c.378G>C (p.Trp126Cys) c.120G>C (p.Trp40Cys) n.769G>C | |
| 22 | g.50627253C>T | CA412180720 | ARSA | c.378G>A (p.Trp126Ter) c.120G>A (p.Trp40Ter) n.769G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627254C>A | CA412180729 | ARSA | c.377G>T (p.Trp126Leu) c.119G>T (p.Trp40Leu) n.768G>T | |
| 22 | g.50627254C>G | CA412180733 | ARSA | c.377G>C (p.Trp126Ser) c.119G>C (p.Trp40Ser) n.768G>C | |
| 22 | g.50627254C>T | CA412180722 | ARSA | c.377G>A (p.Trp126Ter) c.119G>A (p.Trp40Ter) n.768G>A | |
| 22 | g.50627255A= | CA2410959511 | ARSA | c.376T= (p.Trp126=) c.118T= (p.Trp40=) n.767T= | |
| 22 | g.50627255A>C | CA412180738 | ARSA | c.376T>G (p.Trp126Gly) c.118T>G (p.Trp40Gly) n.767T>G | dbSNP |
| 22 | g.50627255A>G | CA412180736 | ARSA | c.376T>C (p.Trp126Arg) c.118T>C (p.Trp40Arg) n.767T>C | |
| 22 | g.50627255A>T | CA412180737 | ARSA | c.376T>A (p.Trp126Arg) c.118T>A (p.Trp40Arg) n.767T>A | gnomAD v4 |
| 22 | g.50627256C>A | CA412180740 | ARSA | c.375G>T (p.Lys125Asn) c.117G>T (p.Lys39Asn) n.766G>T | |
| 22 | g.50627256C= | CA2410959513 | ARSA | c.375G= (p.Lys125=) c.117G= (p.Lys39=) n.766G= | |
| 22 | g.50627256C>G | CA412180743 | ARSA | c.375G>C (p.Lys125Asn) c.117G>C (p.Lys39Asn) n.766G>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627256C>T | CA515391485 | ARSA | c.375G>A (p.Lys125=) c.117G>A (p.Lys39=) n.766G>A | |
| 22 | g.50627256_50627262delinsCTTGCCG | CA2410959512 | ARSA | c.369_375delinsCGGCAAG (p.Ala123=) c.111_117delinsCGGCAAG (p.Ala37=) n.760_766delinsCGGCAAG | |
| 22 | g.50627257T>A | CA412180753 | ARSA | c.374A>T (p.Lys125Met) c.116A>T (p.Lys39Met) n.765A>T | |
| 22 | g.50627257T>C | CA412180756 | ARSA | c.374A>G (p.Lys125Arg) c.116A>G (p.Lys39Arg) n.765A>G | |
| 22 | g.50627257T>G | CA412180758 | ARSA | c.374A>C (p.Lys125Thr) c.116A>C (p.Lys39Thr) n.765A>C | ClinVar |
| 22 | g.50627257_50627262delinsCCCAAGGTT | CA233479 | ARSA | c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) c.111_116delinsAACCTTGGG (p.Gly38_Lys39delinsThrLeuGly) n.760_765delinsAACCTTGGG | ClinVar dbSNP |
| 22 | g.50627258T>A | CA412180763 | ARSA | c.373A>T (p.Lys125Ter) c.115A>T (p.Lys39Ter) n.764A>T | |
| 22 | g.50627258T>C | CA412180767 | ARSA | c.373A>G (p.Lys125Glu) c.115A>G (p.Lys39Glu) n.764A>G | |
| 22 | g.50627258T>G | CA412180770 | ARSA | c.373A>C (p.Lys125Gln) c.115A>C (p.Lys39Gln) n.764A>C | |
| 22 | g.50627259G>A | CA515391487 | ARSA | c.372C>T (p.Gly124=) c.114C>T (p.Gly38=) n.763C>T | |
| 22 | g.50627259G>C | CA515391488 | ARSA | c.372C>G (p.Gly124=) c.114C>G (p.Gly38=) n.763C>G |