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.50625654_50625661dup | CA2573158306 | ARSA | c.1129_1136dup (p.Tyr381ThrfsTer?) c.871_878dup (p.Tyr295ThrfsTer?) c.1108-196_1108-189dup (n.1108-196_1108-189dup) | ClinVar dbSNP |
| 22 | g.50625656_50625659delinsTAGA | CA2410958602 | ARSA | c.1130_1133delinsTCTA (p.Phe377=) c.872_875delinsTCTA (p.Phe291=) c.1108-195_1108-192delinsTCTA (n.1108-195_1108-192delinsTCTA) | |
| 22 | g.50625657A= | CA2410958603 | ARSA | c.1132T= (p.Tyr378=) c.874T= (p.Tyr292=) c.1108-193T= (n.1108-193T=) | |
| 22 | g.50625657A>C | CA412170505 | ARSA | c.1132T>G (p.Tyr378Asp) c.874T>G (p.Tyr292Asp) c.1108-193T>G (n.1108-193T>G) | |
| 22 | g.50625657A>G | CA412170497 | ARSA | c.1132T>C (p.Tyr378His) c.874T>C (p.Tyr292His) c.1108-193T>C (n.1108-193T>C) | |
| 22 | g.50625657A>T | CA218982 | ARSA | c.1132T>A (p.Tyr378Asn) c.874T>A (p.Tyr292Asn) c.1108-193T>A (n.1108-193T>A) | ClinVar dbSNP |
| 22 | g.50625663_50625665del | CA325531266 | ARSA | c.1130_1132del (p.Phe377del) c.872_874del (p.Phe291del) c.1108-195_1108-193del (n.1108-195_1108-193del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625658G>A | CA515248802 | ARSA | c.1131C>T (p.Phe377=) c.873C>T (p.Phe291=) c.1108-194C>T (n.1108-194C>T) | |
| 22 | g.50625658G>C | CA412170511 | ARSA | c.1131C>G (p.Phe377Leu) c.873C>G (p.Phe291Leu) c.1108-194C>G (n.1108-194C>G) | gnomAD v4 |
| 22 | g.50625658G>T | CA412170514 | ARSA | c.1131C>A (p.Phe377Leu) c.873C>A (p.Phe291Leu) c.1108-194C>A (n.1108-194C>A) | |
| 22 | g.50625659A>C | CA412170531 | ARSA | c.1130T>G (p.Phe377Cys) c.872T>G (p.Phe291Cys) c.1108-195T>G (n.1108-195T>G) | |
| 22 | g.50625659A>G | CA412170532 | ARSA | c.1130T>C (p.Phe377Ser) c.872T>C (p.Phe291Ser) c.1108-195T>C (n.1108-195T>C) | gnomAD v4 |
| 22 | g.50625659A>T | CA412170533 | ARSA | c.1130T>A (p.Phe377Tyr) c.872T>A (p.Phe291Tyr) c.1108-195T>A (n.1108-195T>A) | |
| 22 | g.50625660A>C | CA412170550 | ARSA | c.1129T>G (p.Phe377Val) c.871T>G (p.Phe291Val) c.1108-196T>G (n.1108-196T>G) | |
| 22 | g.50625660A>G | CA412170554 | ARSA | c.1129T>C (p.Phe377Leu) c.871T>C (p.Phe291Leu) c.1108-196T>C (n.1108-196T>C) | gnomAD v4 |
| 22 | g.50625660A>T | CA412170558 | ARSA | c.1129T>A (p.Phe377Ile) c.871T>A (p.Phe291Ile) c.1108-196T>A (n.1108-196T>A) | |
| 22 | g.50625661_50625662dup | CA2580100067 | ARSA | c.1128_1129dup (p.Phe377SerfsTer?) c.870_871dup (p.Phe291SerfsTer?) c.1108-197_1108-196dup (n.1108-197_1108-196dup) | ClinVar |
| 22 | g.50625661G>A | CA515248803 | ARSA | c.1128C>T (p.Phe376=) c.870C>T (p.Phe290=) c.1108-197C>T (n.1108-197C>T) | gnomAD v4 |
| 22 | g.50625661G>C | CA412170569 | ARSA | c.1128C>G (p.Phe376Leu) c.870C>G (p.Phe290Leu) c.1108-197C>G (n.1108-197C>G) | |
| 22 | g.50625661G>T | CA412170580 | ARSA | c.1128C>A (p.Phe376Leu) c.870C>A (p.Phe290Leu) c.1108-197C>A (n.1108-197C>A) | |
| 22 | g.50625662A>C | CA412170583 | ARSA | c.1127T>G (p.Phe376Cys) c.869T>G (p.Phe290Cys) c.1108-198T>G (n.1108-198T>G) | |
| 22 | g.50625662A>G | CA412170587 | ARSA | c.1127T>C (p.Phe376Ser) c.869T>C (p.Phe290Ser) c.1108-198T>C (n.1108-198T>C) | |
| 22 | g.50625662A>T | CA412170592 | ARSA | c.1127T>A (p.Phe376Tyr) c.869T>A (p.Phe290Tyr) c.1108-198T>A (n.1108-198T>A) | |
| 22 | g.50625662_50625666delinsAAGAG | CA2410958604 | ARSA | c.1123_1127delinsCTCTT (p.Leu375=) c.865_869delinsCTCTT (p.Leu289=) c.1108-202_1108-198delinsCTCTT (n.1108-202_1108-198delinsCTCTT) | |
| 22 | g.50625663A>C | CA412170625 | ARSA | c.1126T>G (p.Phe376Val) c.868T>G (p.Phe290Val) c.1108-199T>G (n.1108-199T>G) | |
| 22 | g.50625663A>G | CA412170599 | ARSA | c.1126T>C (p.Phe376Leu) c.868T>C (p.Phe290Leu) c.1108-199T>C (n.1108-199T>C) | |
| 22 | g.50625663A>T | CA412170616 | ARSA | c.1126T>A (p.Phe376Ile) c.868T>A (p.Phe290Ile) c.1108-199T>A (n.1108-199T>A) | |
| 22 | g.50625668_50625669del | CA278421 | ARSA | c.1125_1126del (p.Phe376LeufsTer?) c.867_868del (p.Phe290LeufsTer?) c.1108-200_1108-199del (n.1108-200_1108-199del) c.1125_1126del (p.Phe376LeufsTer29) | ClinVar dbSNP |
| 22 | g.50625666_50625669del | CA2410958605 | ARSA | c.1123_1126del (p.Leu375SerfsTer?) c.865_868del (p.Leu289SerfsTer?) c.1108-202_1108-199del (n.1108-202_1108-199del) | ClinVar dbSNP |
| 22 | g.50625664G>A | CA10324810 | ARSA | c.1125C>T (p.Leu375=) c.867C>T (p.Leu289=) c.1108-200C>T (n.1108-200C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625664G>C | CA325531268 | ARSA | c.1125C>G (p.Leu375=) c.867C>G (p.Leu289=) c.1108-200C>G (n.1108-200C>G) | dbSNP gnomAD v4 |
| 22 | g.50625664G= | CA2410958606 | ARSA | c.1125C= (p.Leu375=) c.867C= (p.Leu289=) c.1108-200C= (n.1108-200C=) | |
| 22 | g.50625664G>T | CA515248804 | ARSA | c.1125C>A (p.Leu375=) c.867C>A (p.Leu289=) c.1108-200C>A (n.1108-200C>A) | |
| 22 | g.50625665A>C | CA412170634 | ARSA | c.1124T>G (p.Leu375Arg) c.866T>G (p.Leu289Arg) c.1108-201T>G (n.1108-201T>G) | |
| 22 | g.50625665A>G | CA412170643 | ARSA | c.1124T>C (p.Leu375Pro) c.866T>C (p.Leu289Pro) c.1108-201T>C (n.1108-201T>C) | |
| 22 | g.50625665A>T | CA412170651 | ARSA | c.1124T>A (p.Leu375His) c.866T>A (p.Leu289His) c.1108-201T>A (n.1108-201T>A) | |
| 22 | g.50625666G>A | CA412170658 | ARSA | c.1123C>T (p.Leu375Phe) c.865C>T (p.Leu289Phe) c.1108-202C>T (n.1108-202C>T) | |
| 22 | g.50625666G>C | CA412170659 | ARSA | c.1123C>G (p.Leu375Val) c.865C>G (p.Leu289Val) c.1108-202C>G (n.1108-202C>G) | |
| 22 | g.50625666G>T | CA412170663 | ARSA | c.1123C>A (p.Leu375Ile) c.865C>A (p.Leu289Ile) c.1108-202C>A (n.1108-202C>A) | |
| 22 | g.50625666_50625667delinsGA | CA2410958607 | ARSA | c.1122_1123delinsTC (p.Ser374=) c.864_865delinsTC (p.Ser288=) c.1108-203_1108-202delinsTC (n.1108-203_1108-202delinsTC) | |
| 22 | g.50625667del | CA640358595 | ARSA | c.1122del (p.Leu375SerfsTer?) c.864del (p.Leu289SerfsTer?) c.1108-203del (n.1108-203del) | dbSNP gnomAD v2 |
| 22 | g.50625667A>C | CA515248805 | ARSA | c.1122T>G (p.Ser374=) c.864T>G (p.Ser288=) c.1108-203T>G (n.1108-203T>G) | |
| 22 | g.50625667A>G | CA515248806 | ARSA | c.1122T>C (p.Ser374=) c.864T>C (p.Ser288=) c.1108-203T>C (n.1108-203T>C) | |
| 22 | g.50625667A>T | CA515248807 | ARSA | c.1122T>A (p.Ser374=) c.864T>A (p.Ser288=) c.1108-203T>A (n.1108-203T>A) | |
| 22 | g.50625668G>A | CA412170675 | ARSA | c.1121C>T (p.Ser374Phe) c.863C>T (p.Ser288Phe) c.1108-204C>T (n.1108-204C>T) | gnomAD v4 COSMIC |
| 22 | g.50625668G>C | CA412170680 | ARSA | c.1121C>G (p.Ser374Cys) c.863C>G (p.Ser288Cys) c.1108-204C>G (n.1108-204C>G) | |
| 22 | g.50625668G>T | CA412170687 | ARSA | c.1121C>A (p.Ser374Tyr) c.863C>A (p.Ser288Tyr) c.1108-204C>A (n.1108-204C>A) | |
| 22 | g.50625669A>C | CA412170702 | ARSA | c.1120T>G (p.Ser374Ala) c.862T>G (p.Ser288Ala) c.1108-205T>G (n.1108-205T>G) | |
| 22 | g.50625669A>G | CA412170713 | ARSA | c.1120T>C (p.Ser374Pro) c.862T>C (p.Ser288Pro) c.1108-205T>C (n.1108-205T>C) | |
| 22 | g.50625669A>T | CA412170708 | ARSA | c.1120T>A (p.Ser374Thr) c.862T>A (p.Ser288Thr) c.1108-205T>A (n.1108-205T>A) | gnomAD v4 |