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.113400010C>A | CA382647123 | ANKK1 | c.2041C>A (p.His681Asn) c.2074C>A (p.His692Asn) c.2044C>A (p.His682Asn) c.1852C>A (p.His618Asn) c.2071C>A (p.His691Asn) | |
| 11 | g.113400010C>G | CA382647120 | ANKK1 | c.2041C>G (p.His681Asp) c.2074C>G (p.His692Asp) c.2044C>G (p.His682Asp) c.1852C>G (p.His618Asp) c.2071C>G (p.His691Asp) | |
| 11 | g.113400010C>T | CA382647121 | ANKK1 | c.2041C>T (p.His681Tyr) c.2074C>T (p.His692Tyr) c.2044C>T (p.His682Tyr) c.1852C>T (p.His618Tyr) c.2071C>T (p.His691Tyr) | gnomAD v4 |
| 11 | g.113400011A>C | CA382647124 | ANKK1 | c.2042A>C (p.His681Pro) c.2075A>C (p.His692Pro) c.2045A>C (p.His682Pro) c.1853A>C (p.His618Pro) c.2072A>C (p.His691Pro) | |
| 11 | g.113400011A>G | CA382647126 | ANKK1 | c.2042A>G (p.His681Arg) c.2075A>G (p.His692Arg) c.2045A>G (p.His682Arg) c.1853A>G (p.His618Arg) c.2072A>G (p.His691Arg) | |
| 11 | g.113400011A>T | CA382647127 | ANKK1 | c.2042A>T (p.His681Leu) c.2075A>T (p.His692Leu) c.2045A>T (p.His682Leu) c.1853A>T (p.His618Leu) c.2072A>T (p.His691Leu) | |
| 11 | g.113400012T>A | CA382647129 | ANKK1 | c.2043T>A (p.His681Gln) c.2076T>A (p.His692Gln) c.2046T>A (p.His682Gln) c.1854T>A (p.His618Gln) c.2073T>A (p.His691Gln) | |
| 11 | g.113400012T>C | CA477043012 | ANKK1 | c.2043T>C (p.His681=) c.2076T>C (p.His692=) c.2046T>C (p.His682=) c.1854T>C (p.His618=) c.2073T>C (p.His691=) | |
| 11 | g.113400012T>G | CA382647131 | ANKK1 | c.2043T>G (p.His681Gln) c.2076T>G (p.His692Gln) c.2046T>G (p.His682Gln) c.1854T>G (p.His618Gln) c.2073T>G (p.His691Gln) | ClinVar gnomAD v4 |
| 11 | g.113400013C>A | CA382647133 | ANKK1 | c.2044C>A (p.His682Asn) c.2077C>A (p.His693Asn) c.2047C>A (p.His683Asn) c.1855C>A (p.His619Asn) c.2074C>A (p.His692Asn) | |
| 11 | g.113400013C>G | CA382647135 | ANKK1 | c.2044C>G (p.His682Asp) c.2077C>G (p.His693Asp) c.2047C>G (p.His683Asp) c.1855C>G (p.His619Asp) c.2074C>G (p.His692Asp) | |
| 11 | g.113400013C>T | CA382647136 | ANKK1 | c.2044C>T (p.His682Tyr) c.2077C>T (p.His693Tyr) c.2047C>T (p.His683Tyr) c.1855C>T (p.His619Tyr) c.2074C>T (p.His692Tyr) | COSMIC |
| 11 | g.113400014A>C | CA382647139 | ANKK1 | c.2045A>C (p.His682Pro) c.2078A>C (p.His693Pro) c.2048A>C (p.His683Pro) c.1856A>C (p.His619Pro) c.2075A>C (p.His692Pro) | |
| 11 | g.113400014A>G | CA382647141 | ANKK1 | c.2045A>G (p.His682Arg) c.2078A>G (p.His693Arg) c.2048A>G (p.His683Arg) c.1856A>G (p.His619Arg) c.2075A>G (p.His692Arg) | |
| 11 | g.113400014A>T | CA382647142 | ANKK1 | c.2045A>T (p.His682Leu) c.2078A>T (p.His693Leu) c.2048A>T (p.His683Leu) c.1856A>T (p.His619Leu) c.2075A>T (p.His692Leu) | |
| 11 | g.113400015C>A | CA382647144 | ANKK1 | c.2046C>A (p.His682Gln) c.2079C>A (p.His693Gln) c.2049C>A (p.His683Gln) c.1857C>A (p.His619Gln) c.2076C>A (p.His692Gln) | gnomAD v4 |
| 11 | g.113400015C= | CA2001153426 | ANKK1 | c.2046C= (p.His682=) c.2079C= (p.His693=) c.2049C= (p.His683=) c.1857C= (p.His619=) c.2076C= (p.His692=) | |
| 11 | g.113400015C>G | CA382647143 | ANKK1 | c.2046C>G (p.His682Gln) c.2079C>G (p.His693Gln) c.2049C>G (p.His683Gln) c.1857C>G (p.His619Gln) c.2076C>G (p.His692Gln) | dbSNP gnomAD v4 |
| 11 | g.113400015C>T | CA6281068 | ANKK1 | c.2046C>T (p.His682=) c.2079C>T (p.His693=) c.2049C>T (p.His683=) c.1857C>T (p.His619=) c.2076C>T (p.His692=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=) |