WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3481609_3481611delinsAAT | CA2243882448 | ASPA,SPATA22 | c.243_245delinsAAT (p.Lys81=) c.-73-12213_-73-12211delinsATT (n.-73-12213_-73-12211delinsATT) c.148_150delinsAAT (p.Asn50=) n.418_420delinsAAT | |
| 17 | g.3481610_3481611del | CA274240 | ASPA,SPATA22 | c.244_245del (p.Met82ValfsTer7) c.-73-12213_-73-12212del (n.-73-12213_-73-12212del) c.149_150del (p.Asn50SerfsTer9) n.419_420del | ClinVar dbSNP |
| 17 | g.3481610_3481611delinsAT | CA2243882451 | ASPA,SPATA22 | c.244_245delinsAT (p.Met82=) c.-73-12213_-73-12212delinsAT (n.-73-12213_-73-12212delinsAT) c.149_150delinsAT (p.Asn50=) n.419_420delinsAT | |
| 17 | g.3481611del | CA16041823 | ASPA,SPATA22 | c.245del (p.Met82SerfsTer9) c.-73-12213del (n.-73-12213del) c.150del (p.Asn50LysfsTer?) n.420del | ClinVar dbSNP |
| 17 | g.3481611T>A | CA397682065 | ASPA,SPATA22 | c.245T>A (p.Met82Lys) c.-73-12213A>T (n.-73-12213A>T) c.150T>A (p.Asn50Lys) n.420T>A | |
| 17 | g.3481611T>C | CA8288882 | ASPA,SPATA22 | c.245T>C (p.Met82Thr) c.-73-12213A>G (n.-73-12213A>G) c.150T>C (p.Asn50=) n.420T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3481611T>G | CA397682066 | ASPA,SPATA22 | c.245T>G (p.Met82Arg) c.-73-12213A>C (n.-73-12213A>C) c.150T>G (p.Asn50Lys) n.420T>G | |
| 17 | g.3481611T= | CA2243882455 | ASPA,SPATA22 | c.245T= (p.Met82=) c.-73-12213A= (n.-73-12213A=) c.150T= (p.Asn50=) n.420T= | |
| 17 | g.3481613_3481624del | CA2635397327 | ASPA,SPATA22 | c.247_258del (p.Ser83_Leu86del) c.-73-12224_-73-12213del (n.-73-12224_-73-12213del) c.152_163del (p.Val51_Phe54del) n.422_433del | gnomAD v4 |
| 17 | g.3481612G>A | CA397682067 | ASPA,SPATA22 | c.246G>A (p.Met82Ile) c.-73-12214C>T (n.-73-12214C>T) c.151G>A (p.Val51Ile) n.421G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.3481612G>C | CA397682068 | ASPA,SPATA22 | c.246G>C (p.Met82Ile) c.-73-12214C>G (n.-73-12214C>G) c.151G>C (p.Val51Leu) n.421G>C | |
| 17 | g.3481612G= | CA2243882459 | ASPA,SPATA22 | c.246G= (p.Met82=) c.-73-12214C= (n.-73-12214C=) c.151G= (p.Val51=) n.421G= | |
| 17 | g.3481612G>T | CA397682069 | ASPA,SPATA22 | c.246G>T (p.Met82Ile) c.-73-12214C>A (n.-73-12214C>A) c.151G>T (p.Val51Phe) n.421G>T | |
| 17 | g.3481613T>A | CA397682070 | ASPA,SPATA22 | c.247T>A (p.Ser83Thr) c.-73-12215A>T (n.-73-12215A>T) c.152T>A (p.Val51Asp) n.422T>A | |
| 17 | g.3481613T>C | CA397682071 | ASPA,SPATA22 | c.247T>C (p.Ser83Pro) c.-73-12215A>G (n.-73-12215A>G) c.152T>C (p.Val51Ala) n.422T>C | |
| 17 | g.3481613T>G | CA397682072 | ASPA,SPATA22 | c.247T>G (p.Ser83Ala) c.-73-12215A>C (n.-73-12215A>C) c.152T>G (p.Val51Gly) n.422T>G | |
| 17 | g.3481614_3481622dup | CA728308061 | ASPA,SPATA22 | c.248_256dup (p.Asp85_Leu86insSerGluAsp) c.-73-12223_-73-12215dup (n.-73-12223_-73-12215dup) c.153_161dup (p.Phe54_Ala55insArgArgPhe) n.423_431dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.3481614C>A | CA397682073 | ASPA,SPATA22 | c.248C>A (p.Ser83Ter) c.-73-12216G>T (n.-73-12216G>T) c.153C>A (p.Val51=) n.423C>A | gnomAD v4 |
| 17 | g.3481614C>G | CA397682074 | ASPA,SPATA22 | c.248C>G (p.Ser83Ter) c.-73-12216G>C (n.-73-12216G>C) c.153C>G (p.Val51=) n.423C>G | gnomAD v4 |
| 17 | g.3481614C>T | CA397682075 | ASPA,SPATA22 | c.248C>T (p.Ser83Leu) c.-73-12216G>A (n.-73-12216G>A) c.153C>T (p.Val51=) n.423C>T | |
| 17 | g.3481614_3481617delinsCAGA | CA2243882461 | ASPA,SPATA22 | c.248_251delinsCAGA (p.Ser83=) c.-73-12219_-73-12216delinsTCTG (n.-73-12219_-73-12216delinsTCTG) c.153_156delinsCAGA (p.Val51=) n.423_426delinsCAGA | |
| 17 | g.3481615A= | CA2243882462 | ASPA,SPATA22 | c.249A= (p.Ser83=) c.-73-12217T= (n.-73-12217T=) c.154A= (p.Arg52=) n.424A= | |
| 17 | g.3481615A>C | CA497452785 | ASPA,SPATA22 | c.249A>C (p.Ser83=) c.-73-12217T>G (n.-73-12217T>G) c.154A>C (p.Arg52=) n.424A>C | |
| 17 | g.3481615A>G | CA8288883 | ASPA,SPATA22 | c.249A>G (p.Ser83=) c.-73-12217T>C (n.-73-12217T>C) c.154A>G (p.Arg52Gly) n.424A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.3481615A>T | CA497452786 | ASPA,SPATA22 | c.249A>T (p.Ser83=) c.-73-12217T>A (n.-73-12217T>A) c.154A>T (p.Arg52Ter) n.424A>T | |
| 17 | g.3481618_3481620del | CA624850428 | ASPA,SPATA22 | c.252_254del (p.Glu84del) c.-73-12219_-73-12217del (n.-73-12219_-73-12217del) c.157_159del (p.Arg53del) n.427_429del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.3481616G>A | CA397682076 | ASPA,SPATA22 | c.250G>A (p.Glu84Lys) c.-73-12218C>T (n.-73-12218C>T) c.155G>A (p.Arg52Lys) n.425G>A | |
| 17 | g.3481616G>C | CA397682078 | ASPA,SPATA22 | c.250G>C (p.Glu84Gln) c.-73-12218C>G (n.-73-12218C>G) c.155G>C (p.Arg52Thr) n.425G>C | gnomAD v4 |
| 17 | g.3481616G>T | CA397682077 | ASPA,SPATA22 | c.250G>T (p.Glu84Ter) c.-73-12218C>A (n.-73-12218C>A) c.155G>T (p.Arg52Ile) n.425G>T | |
| 17 | g.3481617A>C | CA397682079 | ASPA,SPATA22 | c.251A>C (p.Glu84Ala) c.-73-12219T>G (n.-73-12219T>G) c.156A>C (p.Arg52Ser) n.426A>C | |
| 17 | g.3481617A>G | CA397682081 | ASPA,SPATA22 | c.251A>G (p.Glu84Gly) c.-73-12219T>C (n.-73-12219T>C) c.156A>G (p.Arg52=) n.426A>G | |
| 17 | g.3481617A>T | CA397682080 | ASPA,SPATA22 | c.251A>T (p.Glu84Val) c.-73-12219T>A (n.-73-12219T>A) c.156A>T (p.Arg52Ser) n.426A>T | |
| 17 | g.3481618A>C | CA397682082 | ASPA,SPATA22 | c.252A>C (p.Glu84Asp) c.-73-12220T>G (n.-73-12220T>G) c.157A>C (p.Arg53=) n.427A>C | |
| 17 | g.3481618A>G | CA497452787 | ASPA,SPATA22 | c.252A>G (p.Glu84=) c.-73-12220T>C (n.-73-12220T>C) c.157A>G (p.Arg53Gly) n.427A>G | |
| 17 | g.3481618A>T | CA397682083 | ASPA,SPATA22 | c.252A>T (p.Glu84Asp) c.-73-12220T>A (n.-73-12220T>A) c.157A>T (p.Arg53Ter) n.427A>T | |
| 17 | g.3481619G>A | CA397682084 | ASPA,SPATA22 | c.253G>A (p.Asp85Asn) c.-73-12221C>T (n.-73-12221C>T) c.158G>A (p.Arg53Lys) n.428G>A | |
| 17 | g.3481619G>C | CA397682085 | ASPA,SPATA22 | c.253G>C (p.Asp85His) c.-73-12221C>G (n.-73-12221C>G) c.158G>C (p.Arg53Thr) n.428G>C | |
| 17 | g.3481619G= | CA2243882465 | ASPA,SPATA22 | c.253G= (p.Asp85=) c.-73-12221C= (n.-73-12221C=) c.158G= (p.Arg53=) n.428G= | |
| 17 | g.3481619G>T | CA397682086 | ASPA,SPATA22 | c.253G>T (p.Asp85Tyr) c.-73-12221C>A (n.-73-12221C>A) c.158G>T (p.Arg53Ile) n.428G>T | dbSNP |
| 17 | g.3481620A>C | CA397682087 | ASPA,SPATA22 | c.254A>C (p.Asp85Ala) c.-73-12222T>G (n.-73-12222T>G) c.159A>C (p.Arg53Ser) n.429A>C | |
| 17 | g.3481620A>G | CA397682088 | ASPA,SPATA22 | c.254A>G (p.Asp85Gly) c.-73-12222T>C (n.-73-12222T>C) c.159A>G (p.Arg53=) n.429A>G | |
| 17 | g.3481620A>T | CA397682089 | ASPA,SPATA22 | c.254A>T (p.Asp85Val) c.-73-12222T>A (n.-73-12222T>A) c.159A>T (p.Arg53Ser) n.429A>T | gnomAD v4 |
| 17 | g.3481621T>A | CA397682090 | ASPA,SPATA22 | c.255T>A (p.Asp85Glu) c.-73-12223A>T (n.-73-12223A>T) c.160T>A (p.Phe54Ile) n.430T>A | |
| 17 | g.3481621T>C | CA497452788 | ASPA,SPATA22 | c.255T>C (p.Asp85=) c.-73-12223A>G (n.-73-12223A>G) c.160T>C (p.Phe54Leu) n.430T>C | |
| 17 | g.3481621T>G | CA8288884 | ASPA,SPATA22 | c.255T>G (p.Asp85Glu) c.-73-12223A>C (n.-73-12223A>C) c.160T>G (p.Phe54Val) n.430T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3481621T= | CA2243882466 | ASPA,SPATA22 | c.255T= (p.Asp85=) c.-73-12223A= (n.-73-12223A=) c.160T= (p.Phe54=) n.430T= | |
| 17 | g.3481622T>A | CA397682091 | ASPA,SPATA22 | c.256T>A (p.Leu86Met) c.-73-12224A>T (n.-73-12224A>T) c.161T>A (p.Phe54Tyr) n.431T>A | |
| 17 | g.3481622T>C | CA497452789 | ASPA,SPATA22 | c.256T>C (p.Leu86=) c.-73-12224A>G (n.-73-12224A>G) c.161T>C (p.Phe54Ser) n.431T>C | |
| 17 | g.3481622T>G | CA397682092 | ASPA,SPATA22 | c.256T>G (p.Leu86Val) c.-73-12224A>C (n.-73-12224A>C) c.161T>G (p.Phe54Cys) n.431T>G | |
| 17 | g.3481623T>A | CA397682093 | ASPA,SPATA22 | c.257T>A (p.Leu86Ter) c.-73-12225A>T (n.-73-12225A>T) c.162T>A (p.Phe54Leu) n.432T>A |