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 |
|---|---|---|---|---|---|
| 11 | g.113400020_113400035del | CA2574982166 | ANKK1 | c.2051_2066del (p.Asn684ThrfsTer?) c.2084_2099del (p.Asn695ThrfsTer?) c.2054_2069del (p.Asn685ThrfsTer?) c.1862_1877del (p.Asn621ThrfsTer?) c.2081_2096del (p.Asn694ThrfsTer?) | |
| 11 | g.113400016G>A | CA6281069 | ANKK1 | c.2047G>A (p.Ala683Thr) c.2080G>A (p.Ala694Thr) c.2050G>A (p.Ala684Thr) c.1858G>A (p.Ala620Thr) c.2077G>A (p.Ala693Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.113400016G>C | CA6281070 | ANKK1 | c.2047G>C (p.Ala683Pro) c.2080G>C (p.Ala694Pro) c.2050G>C (p.Ala684Pro) c.1858G>C (p.Ala620Pro) c.2077G>C (p.Ala693Pro) | dbSNP ExAC gnomAD v4 |
| 11 | g.113400016G= | CA2001153435 | ANKK1 | c.2047G= (p.Ala683=) c.2080G= (p.Ala694=) c.2050G= (p.Ala684=) c.1858G= (p.Ala620=) c.2077G= (p.Ala693=) | |
| 11 | g.113400016G>T | CA382647146 | ANKK1 | c.2047G>T (p.Ala683Ser) c.2080G>T (p.Ala694Ser) c.2050G>T (p.Ala684Ser) c.1858G>T (p.Ala620Ser) c.2077G>T (p.Ala693Ser) | |
| 11 | g.113400017C>A | CA382647149 | ANKK1 | c.2048C>A (p.Ala683Glu) c.2081C>A (p.Ala694Glu) c.2051C>A (p.Ala684Glu) c.1859C>A (p.Ala620Glu) c.2078C>A (p.Ala693Glu) | |
| 11 | g.113400017C= | CA2001153439 | ANKK1 | c.2048C= (p.Ala683=) c.2081C= (p.Ala694=) c.2051C= (p.Ala684=) c.1859C= (p.Ala620=) c.2078C= (p.Ala693=) | |
| 11 | g.113400017C>G | CA382647150 | ANKK1 | c.2048C>G (p.Ala683Gly) c.2081C>G (p.Ala694Gly) c.2051C>G (p.Ala684Gly) c.1859C>G (p.Ala620Gly) c.2078C>G (p.Ala693Gly) | |
| 11 | g.113400017C>T | CA382647152 | ANKK1 | c.2048C>T (p.Ala683Val) c.2081C>T (p.Ala694Val) c.2051C>T (p.Ala684Val) c.1859C>T (p.Ala620Val) c.2078C>T (p.Ala693Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400018A>C | CA477043013 | ANKK1 | c.2049A>C (p.Ala683=) c.2082A>C (p.Ala694=) c.2052A>C (p.Ala684=) c.1860A>C (p.Ala620=) c.2079A>C (p.Ala693=) | |
| 11 | g.113400018A>G | CA477043014 | ANKK1 | c.2049A>G (p.Ala683=) c.2082A>G (p.Ala694=) c.2052A>G (p.Ala684=) c.1860A>G (p.Ala620=) c.2079A>G (p.Ala693=) | |
| 11 | g.113400018A>T | CA477043015 | ANKK1 | c.2049A>T (p.Ala683=) c.2082A>T (p.Ala694=) c.2052A>T (p.Ala684=) c.1860A>T (p.Ala620=) c.2079A>T (p.Ala693=) | |
| 11 | g.113400019A= | CA2001153441 | ANKK1 | c.2050A= (p.Asn684=) c.2083A= (p.Asn695=) c.2053A= (p.Asn685=) c.1861A= (p.Asn621=) c.2080A= (p.Asn694=) | |
| 11 | g.113400019A>C | CA6281071 | ANKK1 | c.2050A>C (p.Asn684His) c.2083A>C (p.Asn695His) c.2053A>C (p.Asn685His) c.1861A>C (p.Asn621His) c.2080A>C (p.Asn694His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113400019A>G | CA382647155 | ANKK1 | c.2050A>G (p.Asn684Asp) c.2083A>G (p.Asn695Asp) c.2053A>G (p.Asn685Asp) c.1861A>G (p.Asn621Asp) c.2080A>G (p.Asn694Asp) | gnomAD v4 |
| 11 | g.113400019A>T | CA382647156 | ANKK1 | c.2050A>T (p.Asn684Tyr) c.2083A>T (p.Asn695Tyr) c.2053A>T (p.Asn685Tyr) c.1861A>T (p.Asn621Tyr) c.2080A>T (p.Asn694Tyr) | |
| 11 | g.113400020A>C | CA382647158 | ANKK1 | c.2051A>C (p.Asn684Thr) c.2084A>C (p.Asn695Thr) c.2054A>C (p.Asn685Thr) c.1862A>C (p.Asn621Thr) c.2081A>C (p.Asn694Thr) | gnomAD v4 |
| 11 | g.113400020A>G | CA382647160 | ANKK1 | c.2051A>G (p.Asn684Ser) c.2084A>G (p.Asn695Ser) c.2054A>G (p.Asn685Ser) c.1862A>G (p.Asn621Ser) c.2081A>G (p.Asn694Ser) | |
| 11 | g.113400020A>T | CA382647162 | ANKK1 | c.2051A>T (p.Asn684Ile) c.2084A>T (p.Asn695Ile) c.2054A>T (p.Asn685Ile) c.1862A>T (p.Asn621Ile) c.2081A>T (p.Asn694Ile) | |
| 11 | g.113400021T>A | CA382647164 | ANKK1 | c.2052T>A (p.Asn684Lys) c.2085T>A (p.Asn695Lys) c.2055T>A (p.Asn685Lys) c.1863T>A (p.Asn621Lys) c.2082T>A (p.Asn694Lys) | |
| 11 | g.113400021T>C | CA477043016 | ANKK1 | c.2052T>C (p.Asn684=) c.2085T>C (p.Asn695=) c.2055T>C (p.Asn685=) c.1863T>C (p.Asn621=) c.2082T>C (p.Asn694=) | gnomAD v4 |
| 11 | g.113400021T>G | CA382647166 | ANKK1 | c.2052T>G (p.Asn684Lys) c.2085T>G (p.Asn695Lys) c.2055T>G (p.Asn685Lys) c.1863T>G (p.Asn621Lys) c.2082T>G (p.Asn694Lys) | |
| 11 | g.113400022G>A | CA228616096 | ANKK1 | c.2053G>A (p.Val685Ile) c.2086G>A (p.Val696Ile) c.2056G>A (p.Val686Ile) c.1864G>A (p.Val622Ile) c.2083G>A (p.Val695Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113400022G>C | CA382647170 | ANKK1 | c.2053G>C (p.Val685Leu) c.2086G>C (p.Val696Leu) c.2056G>C (p.Val686Leu) c.1864G>C (p.Val622Leu) c.2083G>C (p.Val695Leu) | |
| 11 | g.113400022G= | CA2001153445 | ANKK1 | c.2053G= (p.Val685=) c.2086G= (p.Val696=) c.2056G= (p.Val686=) c.1864G= (p.Val622=) c.2083G= (p.Val695=) | |
| 11 | g.113400022G>T | CA382647171 | ANKK1 | c.2053G>T (p.Val685Phe) c.2086G>T (p.Val696Phe) c.2056G>T (p.Val686Phe) c.1864G>T (p.Val622Phe) c.2083G>T (p.Val695Phe) | |
| 11 | g.113400023T>A | CA382647173 | ANKK1 | c.2054T>A (p.Val685Asp) c.2087T>A (p.Val696Asp) c.2057T>A (p.Val686Asp) c.1865T>A (p.Val622Asp) c.2084T>A (p.Val695Asp) | |
| 11 | g.113400023T>C | CA382647174 | ANKK1 | c.2054T>C (p.Val685Ala) c.2087T>C (p.Val696Ala) c.2057T>C (p.Val686Ala) c.1865T>C (p.Val622Ala) c.2084T>C (p.Val695Ala) | |
| 11 | g.113400023T>G | CA382647176 | ANKK1 | c.2054T>G (p.Val685Gly) c.2087T>G (p.Val696Gly) c.2057T>G (p.Val686Gly) c.1865T>G (p.Val622Gly) c.2084T>G (p.Val695Gly) | |
| 11 | g.113400024C>A | CA477043017 | ANKK1 | c.2055C>A (p.Val685=) c.2088C>A (p.Val696=) c.2058C>A (p.Val686=) c.1866C>A (p.Val622=) c.2085C>A (p.Val695=) | |
| 11 | g.113400024C>G | CA477043018 | ANKK1 | c.2055C>G (p.Val685=) c.2088C>G (p.Val696=) c.2058C>G (p.Val686=) c.1866C>G (p.Val622=) c.2085C>G (p.Val695=) | |
| 11 | g.113400024C>T | CA477043019 | ANKK1 | c.2055C>T (p.Val685=) c.2088C>T (p.Val696=) c.2058C>T (p.Val686=) c.1866C>T (p.Val622=) c.2085C>T (p.Val695=) | gnomAD v4 |
| 11 | g.113400025C>A | CA382647177 | ANKK1 | c.2056C>A (p.His686Asn) c.2089C>A (p.His697Asn) c.2059C>A (p.His687Asn) c.1867C>A (p.His623Asn) c.2086C>A (p.His696Asn) | |
| 11 | g.113400025C= | CA2001153448 | ANKK1 | c.2056C= (p.His686=) c.2089C= (p.His697=) c.2059C= (p.His687=) c.1867C= (p.His623=) c.2086C= (p.His696=) | |
| 11 | g.113400025C>G | CA6281072 | ANKK1 | c.2056C>G (p.His686Asp) c.2089C>G (p.His697Asp) c.2059C>G (p.His687Asp) c.1867C>G (p.His623Asp) c.2086C>G (p.His696Asp) | dbSNP ExAC gnomAD v2 |
| 11 | g.113400025C>T | CA382647180 | ANKK1 | c.2056C>T (p.His686Tyr) c.2089C>T (p.His697Tyr) c.2059C>T (p.His687Tyr) c.1867C>T (p.His623Tyr) c.2086C>T (p.His696Tyr) | |
| 11 | g.113400025_113400048delinsCACGCCCGCAACAAGGTGGGCTGG | CA2001153451 | ANKK1 | c.2056_2079delinsCACGCCCGCAACAAGGTGGGCTGG (p.His686=) c.2089_2112delinsCACGCCCGCAACAAGGTGGGCTGG (p.His697=) c.2059_2082delinsCACGCCCGCAACAAGGTGGGCTGG (p.His687=) c.1867_1890delinsCACGCCCGCAACAAGGTGGGCTGG (p.His623=) c.2086_2109delinsCACGCCCGCAACAAGGTGGGCTGG (p.His696=) | |
| 11 | g.113400026A>C | CA382647182 | ANKK1 | c.2057A>C (p.His686Pro) c.2090A>C (p.His697Pro) c.2060A>C (p.His687Pro) c.1868A>C (p.His623Pro) c.2087A>C (p.His696Pro) | |
| 11 | g.113400026A>G | CA382647184 | ANKK1 | c.2057A>G (p.His686Arg) c.2090A>G (p.His697Arg) c.2060A>G (p.His687Arg) c.1868A>G (p.His623Arg) c.2087A>G (p.His696Arg) | |
| 11 | g.113400026A>T | CA382647186 | ANKK1 | c.2057A>T (p.His686Leu) c.2090A>T (p.His697Leu) c.2060A>T (p.His687Leu) c.1868A>T (p.His623Leu) c.2087A>T (p.His696Leu) | |
| 11 | g.113400028_113400050del | CA671839524 | ANKK1 | c.2059_2081del (p.Ala687ThrfsTer?) c.2092_2114del (p.Ala698ThrfsTer?) c.2062_2084del (p.Ala688ThrfsTer?) c.1870_1892del (p.Ala624ThrfsTer?) c.2089_2111del (p.Ala697ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113400027C>A | CA382647191 | ANKK1 | c.2058C>A (p.His686Gln) c.2091C>A (p.His697Gln) c.2061C>A (p.His687Gln) c.1869C>A (p.His623Gln) c.2088C>A (p.His696Gln) | |
| 11 | g.113400027C= | CA2001153460 | ANKK1 | c.2058C= (p.His686=) c.2091C= (p.His697=) c.2061C= (p.His687=) c.1869C= (p.His623=) c.2088C= (p.His696=) | |
| 11 | g.113400027C>G | CA382647195 | ANKK1 | c.2058C>G (p.His686Gln) c.2091C>G (p.His697Gln) c.2061C>G (p.His687Gln) c.1869C>G (p.His623Gln) c.2088C>G (p.His696Gln) | |
| 11 | g.113400027C>T | CA6281073 | ANKK1 | c.2058C>T (p.His686=) c.2091C>T (p.His697=) c.2061C>T (p.His687=) c.1869C>T (p.His623=) c.2088C>T (p.His696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400028G>A | CA6281074 | ANKK1 | c.2059G>A (p.Ala687Thr) c.2092G>A (p.Ala698Thr) c.2062G>A (p.Ala688Thr) c.1870G>A (p.Ala624Thr) c.2089G>A (p.Ala697Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.113400028G>C | CA382647199 | ANKK1 | c.2059G>C (p.Ala687Pro) c.2092G>C (p.Ala698Pro) c.2062G>C (p.Ala688Pro) c.1870G>C (p.Ala624Pro) c.2089G>C (p.Ala697Pro) | |
| 11 | g.113400028G= | CA2001153462 | ANKK1 | c.2059G= (p.Ala687=) c.2092G= (p.Ala698=) c.2062G= (p.Ala688=) c.1870G= (p.Ala624=) c.2089G= (p.Ala697=) | |
| 11 | g.113400028G>T | CA382647201 | ANKK1 | c.2059G>T (p.Ala687Ser) c.2092G>T (p.Ala698Ser) c.2062G>T (p.Ala688Ser) c.1870G>T (p.Ala624Ser) c.2089G>T (p.Ala697Ser) | gnomAD v4 |
| 11 | g.113400028_113400044del | CA2616033730 | ANKK1 | c.2059_2075del (p.Ala687LeufsTer?) c.2092_2108del (p.Ala698LeufsTer?) c.2062_2078del (p.Ala688LeufsTer?) c.1870_1886del (p.Ala624LeufsTer?) c.2089_2105del (p.Ala697LeufsTer?) | gnomAD v4 |