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 |
|---|---|---|---|---|---|
| 1 | g.99881302_99881330del | CA2646736197 | AGL | c.2012_2040del (p.Val671GlufsTer3) n.2223_2251del c.1964_1992del (p.Val655GlufsTer3) c.1961_1989del (p.Val654GlufsTer3) c.272_300del (p.Val91GlufsTer3) | gnomAD v4 |
| 1 | g.99881330G>A | CA341318709 | AGL | c.2040G>A (p.Trp680Ter) n.2251G>A c.1992G>A (p.Trp664Ter) c.1989G>A (p.Trp663Ter) c.300G>A (p.Trp100Ter) | gnomAD v4 |
| 1 | g.99881330G>C | CA341318713 | AGL | c.2040G>C (p.Trp680Cys) n.2251G>C c.1992G>C (p.Trp664Cys) c.1989G>C (p.Trp663Cys) c.300G>C (p.Trp100Cys) | |
| 1 | g.99881330G= | CA1183929288 | AGL | c.2040G= (p.Trp680=) n.2251G= c.1992G= (p.Trp664=) c.1989G= (p.Trp663=) c.300G= (p.Trp100=) | |
| 1 | g.99881330G>T | CA966682 | AGL | c.2040G>T (p.Trp680Cys) n.2251G>T c.1992G>T (p.Trp664Cys) c.1989G>T (p.Trp663Cys) c.300G>T (p.Trp100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881331A>C | CA341318716 | AGL | c.2041A>C (p.Asn681His) n.2252A>C c.1993A>C (p.Asn665His) c.1990A>C (p.Asn664His) c.301A>C (p.Asn101His) | |
| 1 | g.99881331A>G | CA341318717 | AGL | c.2041A>G (p.Asn681Asp) n.2252A>G c.1993A>G (p.Asn665Asp) c.1990A>G (p.Asn664Asp) c.301A>G (p.Asn101Asp) | |
| 1 | g.99881331A>T | CA341318720 | AGL | c.2041A>T (p.Asn681Tyr) n.2252A>T c.1993A>T (p.Asn665Tyr) c.1990A>T (p.Asn664Tyr) c.301A>T (p.Asn101Tyr) | |
| 1 | g.99881332A>C | CA341318723 | AGL | c.2042A>C (p.Asn681Thr) n.2253A>C c.1994A>C (p.Asn665Thr) c.1991A>C (p.Asn664Thr) c.302A>C (p.Asn101Thr) | |
| 1 | g.99881332A>G | CA341318729 | AGL | c.2042A>G (p.Asn681Ser) n.2253A>G c.1994A>G (p.Asn665Ser) c.1991A>G (p.Asn664Ser) c.302A>G (p.Asn101Ser) | |
| 1 | g.99881332A>T | CA341318735 | AGL | c.2042A>T (p.Asn681Ile) n.2253A>T c.1994A>T (p.Asn665Ile) c.1991A>T (p.Asn664Ile) c.302A>T (p.Asn101Ile) | |
| 1 | g.99881333T>A | CA341318737 | AGL | c.2043T>A (p.Asn681Lys) n.2254T>A c.1995T>A (p.Asn665Lys) c.1992T>A (p.Asn664Lys) c.303T>A (p.Asn101Lys) | |
| 1 | g.99881333T>C | CA419314362 | AGL | c.2043T>C (p.Asn681=) n.2254T>C c.1995T>C (p.Asn665=) c.1992T>C (p.Asn664=) c.303T>C (p.Asn101=) | |
| 1 | g.99881333T>G | CA341318739 | AGL | c.2043T>G (p.Asn681Lys) n.2254T>G c.1995T>G (p.Asn665Lys) c.1992T>G (p.Asn664Lys) c.303T>G (p.Asn101Lys) | |
| 1 | g.99881334C>A | CA341318750 | AGL | c.2044C>A (p.Pro682Thr) n.2255C>A c.1996C>A (p.Pro666Thr) c.1993C>A (p.Pro665Thr) c.304C>A (p.Pro102Thr) | |
| 1 | g.99881334C>G | CA341318748 | AGL | c.2044C>G (p.Pro682Ala) n.2255C>G c.1996C>G (p.Pro666Ala) c.1993C>G (p.Pro665Ala) c.304C>G (p.Pro102Ala) | |
| 1 | g.99881334C>T | CA341318742 | AGL | c.2044C>T (p.Pro682Ser) n.2255C>T c.1996C>T (p.Pro666Ser) c.1993C>T (p.Pro665Ser) c.304C>T (p.Pro102Ser) | |
| 1 | g.99881335C>A | CA341318755 | AGL | c.2045C>A (p.Pro682His) n.2256C>A c.1997C>A (p.Pro666His) c.1994C>A (p.Pro665His) c.305C>A (p.Pro102His) | |
| 1 | g.99881335C>G | CA341318760 | AGL | c.2045C>G (p.Pro682Arg) n.2256C>G c.1997C>G (p.Pro666Arg) c.1994C>G (p.Pro665Arg) c.305C>G (p.Pro102Arg) | |
| 1 | g.99881335C>T | CA341318757 | AGL | c.2045C>T (p.Pro682Leu) n.2256C>T c.1997C>T (p.Pro666Leu) c.1994C>T (p.Pro665Leu) c.305C>T (p.Pro102Leu) | gnomAD v4 |
| 1 | g.99881336T>A | CA419314363 | AGL | c.2046T>A (p.Pro682=) n.2257T>A c.1998T>A (p.Pro666=) c.1995T>A (p.Pro665=) c.306T>A (p.Pro102=) | |
| 1 | g.99881336T>C | CA419314364 | AGL | c.2046T>C (p.Pro682=) n.2257T>C c.1998T>C (p.Pro666=) c.1995T>C (p.Pro665=) c.306T>C (p.Pro102=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881336T>G | CA419314365 | AGL | c.2046T>G (p.Pro682=) n.2257T>G c.1998T>G (p.Pro666=) c.1995T>G (p.Pro665=) c.306T>G (p.Pro102=) | |
| 1 | g.99881336T= | CA1183929289 | AGL | c.2046T= (p.Pro682=) n.2257T= c.1998T= (p.Pro666=) c.1995T= (p.Pro665=) c.306T= (p.Pro102=) | |
| 1 | g.99881337G>A | CA341318763 | AGL | c.2047G>A (p.Glu683Lys) n.2258G>A c.1999G>A (p.Glu667Lys) c.1996G>A (p.Glu666Lys) c.307G>A (p.Glu103Lys) | |
| 1 | g.99881337G>C | CA341318768 | AGL | c.2047G>C (p.Glu683Gln) n.2258G>C c.1999G>C (p.Glu667Gln) c.1996G>C (p.Glu666Gln) c.307G>C (p.Glu103Gln) | |
| 1 | g.99881337G>T | CA341318766 | AGL | c.2047G>T (p.Glu683Ter) n.2258G>T c.1999G>T (p.Glu667Ter) c.1996G>T (p.Glu666Ter) c.307G>T (p.Glu103Ter) | |
| 1 | g.99881338A>C | CA341318772 | AGL | c.2048A>C (p.Glu683Ala) n.2259A>C c.2000A>C (p.Glu667Ala) c.1997A>C (p.Glu666Ala) c.308A>C (p.Glu103Ala) | |
| 1 | g.99881338A>G | CA341318775 | AGL | c.2048A>G (p.Glu683Gly) n.2259A>G c.2000A>G (p.Glu667Gly) c.1997A>G (p.Glu666Gly) c.308A>G (p.Glu103Gly) | |
| 1 | g.99881338A>T | CA341318776 | AGL | c.2048A>T (p.Glu683Val) n.2259A>T c.2000A>T (p.Glu667Val) c.1997A>T (p.Glu666Val) c.308A>T (p.Glu103Val) | gnomAD v4 |
| 1 | g.99881339A= | CA1183929290 | AGL | c.2049A= (p.Glu683=) n.2260A= c.2001A= (p.Glu667=) c.1998A= (p.Glu666=) c.309A= (p.Glu103=) | |
| 1 | g.99881339A>C | CA341318777 | AGL | c.2049A>C (p.Glu683Asp) n.2260A>C c.2001A>C (p.Glu667Asp) c.1998A>C (p.Glu666Asp) c.309A>C (p.Glu103Asp) | |
| 1 | g.99881339A>G | CA27516206 | AGL | c.2049A>G (p.Glu683=) n.2260A>G c.2001A>G (p.Glu667=) c.1998A>G (p.Glu666=) c.309A>G (p.Glu103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881339A>T | CA341318778 | AGL | c.2049A>T (p.Glu683Asp) n.2260A>T c.2001A>T (p.Glu667Asp) c.1998A>T (p.Glu666Asp) c.309A>T (p.Glu103Asp) | dbSNP gnomAD v4 |
| 1 | g.99881340G>A | CA341318779 | AGL | c.2050G>A (p.Ala684Thr) n.2261G>A c.2002G>A (p.Ala668Thr) c.1999G>A (p.Ala667Thr) c.310G>A (p.Ala104Thr) | dbSNP gnomAD v4 |
| 1 | g.99881340G>C | CA341318780 | AGL | c.2050G>C (p.Ala684Pro) n.2261G>C c.2002G>C (p.Ala668Pro) c.1999G>C (p.Ala667Pro) c.310G>C (p.Ala104Pro) | |
| 1 | g.99881340G= | CA1183929291 | AGL | c.2050G= (p.Ala684=) n.2261G= c.2002G= (p.Ala668=) c.1999G= (p.Ala667=) c.310G= (p.Ala104=) | |
| 1 | g.99881340G>T | CA341318781 | AGL | c.2050G>T (p.Ala684Ser) n.2261G>T c.2002G>T (p.Ala668Ser) c.1999G>T (p.Ala667Ser) c.310G>T (p.Ala104Ser) | |
| 1 | g.99881341C>A | CA341318782 | AGL | c.2051C>A (p.Ala684Glu) n.2262C>A c.2003C>A (p.Ala668Glu) c.2000C>A (p.Ala667Glu) c.311C>A (p.Ala104Glu) | gnomAD v4 |
| 1 | g.99881341C= | CA1183929292 | AGL | c.2051C= (p.Ala684=) n.2262C= c.2003C= (p.Ala668=) c.2000C= (p.Ala667=) c.311C= (p.Ala104=) | |
| 1 | g.99881341C>G | CA341318783 | AGL | c.2051C>G (p.Ala684Gly) n.2262C>G c.2003C>G (p.Ala668Gly) c.2000C>G (p.Ala667Gly) c.311C>G (p.Ala104Gly) | |
| 1 | g.99881341C>T | CA341318784 | AGL | c.2051C>T (p.Ala684Val) n.2262C>T c.2003C>T (p.Ala668Val) c.2000C>T (p.Ala667Val) c.311C>T (p.Ala104Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881342A>C | CA419314368 | AGL | c.2052A>C (p.Ala684=) n.2263A>C c.2004A>C (p.Ala668=) c.2001A>C (p.Ala667=) c.312A>C (p.Ala104=) | |
| 1 | g.99881342A>G | CA419314367 | AGL | c.2052A>G (p.Ala684=) n.2263A>G c.2004A>G (p.Ala668=) c.2001A>G (p.Ala667=) c.312A>G (p.Ala104=) | gnomAD v4 |
| 1 | g.99881342A>T | CA419314366 | AGL | c.2052A>T (p.Ala684=) n.2263A>T c.2004A>T (p.Ala668=) c.2001A>T (p.Ala667=) c.312A>T (p.Ala104=) | |
| 1 | g.99881343T>A | CA341318792 | AGL | c.2053T>A (p.Leu685Met) n.2264T>A c.2005T>A (p.Leu669Met) c.2002T>A (p.Leu668Met) c.313T>A (p.Leu105Met) | |
| 1 | g.99881343T>C | CA419314369 | AGL | c.2053T>C (p.Leu685=) n.2264T>C c.2005T>C (p.Leu669=) c.2002T>C (p.Leu668=) c.313T>C (p.Leu105=) | |
| 1 | g.99881343T>G | CA966683 | AGL | c.2053T>G (p.Leu685Val) n.2264T>G c.2005T>G (p.Leu669Val) c.2002T>G (p.Leu668Val) c.313T>G (p.Leu105Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881343T= | CA1183929293 | AGL | c.2053T= (p.Leu685=) n.2264T= c.2005T= (p.Leu669=) c.2002T= (p.Leu668=) c.313T= (p.Leu105=) | |
| 1 | g.99881344T>A | CA341318796 | AGL | c.2054T>A (p.Leu685Ter) n.2265T>A c.2006T>A (p.Leu669Ter) c.2003T>A (p.Leu668Ter) c.314T>A (p.Leu105Ter) |