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.5224303_5227790del | CA2499220996 | ClinVar | ||
| 11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
| 11 | g.5225895_5227411delinsT | CA916083175 | ClinVar | ||
| 11 | g.5226164_5227556del | CA916083178 | ClinVar | ||
| 11 | g.5226452_5228055del | CA916083180 | ClinVar | ||
| 11 | g.5226570_5233984del | CA124670 | ClinVar | ||
| 11 | g.5226638_5234052del | CA124669 | ClinVar | ||
| 11 | g.5226641_5227549del | CA916083189 | HBB | c.-56_251del | ClinVar |
| 11 | g.5226755_5227283del | CA2499221076 | HBB | c.-19+234_142del | ClinVar |
| 11 | g.5226904_5227197delinsACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG | CA1949570069 | HBB | c.-176_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT c.-18-158_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT | |
| 11 | g.5226905_5227197del | CA891862904 | HBB | c.-176_92+25del c.-18-158_92+25del | ClinVar dbSNP |
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 11 | g.5226929_5227071delinsCCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGT | CA1949570216 | HBB | c.-50_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-18-32_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG n.2_143+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-50_76+17delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG | |
| 11 | g.5226930_5227071del | CA1139661798 | HBB | c.-50_92del c.-18-32_92del n.2_143del c.-50_76+16del | ClinVar dbSNP |
| 11 | g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC | CA1949570429 | HBB | c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT | |
| 11 | g.5226948_5227485del | CA916083211 | HBB | c.-19+27_74del | ClinVar dbSNP |
| 11 | g.5226990_5227095delinsGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGA | CA1949570884 | HBB | c.-74_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC c.-18-56_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC | |
| 11 | g.5226992_5227096del | CA916083219 | HBB | c.-74_31del c.-18-56_31del | ClinVar dbSNP |
| 11 | g.5226995_5227524del | CA2739276176 | HBB | c.-29_29del | ClinVar |
| 11 | g.5226993_5227525delinsGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT | CA1949570927 | HBB | c.-32_29delinsATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTC | |
| 11 | g.5226994_5227525del | CA916083221 | HBB | c.-32_28del | ClinVar dbSNP |
| 11 | g.5227052del | CA2695213080 | HBB | c.-31del (n.-31del) c.-18-13del (n.-18-13del) n.21del | |
| 11 | g.5227052G>A | CA342844 | HBB | c.-31C>T (n.-31C>T) c.-18-13C>T (n.-18-13C>T) n.21C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227052G>C | CA2579829046 | HBB | c.-31C>G (n.-31C>G) c.-18-13C>G (n.-18-13C>G) n.21C>G | |
| 11 | g.5227052G= | CA1949571448 | HBB | c.-31C= (n.-31C=) c.-18-13C= (n.-18-13C=) n.21C= | |
| 11 | g.5227052G>T | CA5839827 | HBB | c.-31C>A (n.-31C>A) c.-18-13C>A (n.-18-13C>A) n.21C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5227053T>A | CA2579829047 | HBB | c.-32A>T (n.-32A>T) c.-18-14A>T (n.-18-14A>T) n.20A>T | |
| 11 | g.5227053T>C | CA2579829048 | HBB | c.-32A>G (n.-32A>G) c.-18-14A>G (n.-18-14A>G) n.20A>G | gnomAD v4 |
| 11 | g.5227053T>G | CA2579829049 | HBB | c.-32A>C (n.-32A>C) c.-18-14A>C (n.-18-14A>C) n.20A>C | gnomAD v4 |
| 11 | g.5227054T>A | CA2579829051 | HBB | c.-33A>T (n.-33A>T) c.-18-15A>T (n.-18-15A>T) n.19A>T | |
| 11 | g.5227054T>C | CA2579829052 | HBB | c.-33A>G (n.-33A>G) c.-18-15A>G (n.-18-15A>G) n.19A>G | |
| 11 | g.5227054T>G | CA2579829053 | HBB | c.-33A>C (n.-33A>C) c.-18-15A>C (n.-18-15A>C) n.19A>C | |
| 11 | g.5227054T= | CA2579829050 | HBB | c.-33A= (n.-33A=) c.-18-15A= (n.-18-15A=) n.19A= | |
| 11 | g.5227055G>A | CA2579829054 | HBB | c.-34C>T (n.-34C>T) c.-18-16C>T (n.-18-16C>T) n.18C>T | |
| 11 | g.5227055G>C | CA2579829055 | HBB | c.-34C>G (n.-34C>G) c.-18-16C>G (n.-18-16C>G) n.18C>G | |
| 11 | g.5227055G>T | CA2574735708 | HBB | c.-34C>A (n.-34C>A) c.-18-16C>A (n.-18-16C>A) n.18C>A | gnomAD v4 |
| 11 | g.5227056T>A | CA2579829056 | HBB | c.-35A>T (n.-35A>T) c.-18-17A>T (n.-18-17A>T) n.17A>T | |
| 11 | g.5227056T>C | CA916083228 | HBB | c.-35A>G (n.-35A>G) c.-18-17A>G (n.-18-17A>G) n.17A>G | ClinVar dbSNP |
| 11 | g.5227056T>G | CA2579829058 | HBB | c.-35A>C (n.-35A>C) c.-18-17A>C (n.-18-17A>C) n.17A>C | |
| 11 | g.5227056T= | CA1949571454 | HBB | c.-35A= (n.-35A=) c.-18-17A= (n.-18-17A=) n.17A= | |
| 11 | g.5227057G>A | CA2579829057 | HBB | c.-36C>T (n.-36C>T) c.-18-18C>T (n.-18-18C>T) n.16C>T | |
| 11 | g.5227057G>C | CA2579829059 | HBB | c.-36C>G (n.-36C>G) c.-18-18C>G (n.-18-18C>G) n.16C>G | |
| 11 | g.5227057G>T | CA1139771776 | HBB | c.-36C>A (n.-36C>A) c.-18-18C>A (n.-18-18C>A) n.16C>A | gnomAD v4 |
| 11 | g.5227058T>A | CA2579829060 | HBB | c.-37A>T (n.-37A>T) c.-18-19A>T (n.-18-19A>T) n.15A>T | |
| 11 | g.5227058T>C | CA2579829062 | HBB | c.-37A>G (n.-37A>G) c.-18-19A>G (n.-18-19A>G) n.15A>G | |
| 11 | g.5227058T>G | CA2579829063 | HBB | c.-37A>C (n.-37A>C) c.-18-19A>C (n.-18-19A>C) n.15A>C | |
| 11 | g.5227059C>A | CA2579829065 | HBB | c.-38G>T (n.-38G>T) c.-18-20G>T (n.-18-20G>T) n.14G>T | gnomAD v4 |
| 11 | g.5227059C>G | CA2579829064 | HBB | c.-38G>C (n.-38G>C) c.-18-20G>C (n.-18-20G>C) n.14G>C | |
| 11 | g.5227059C>T | CA2579829066 | HBB | c.-38G>A (n.-38G>A) c.-18-20G>A (n.-18-20G>A) n.14G>A | |
| 11 | g.5227060A= | CA1949571461 | HBB | c.-39T= (n.-39T=) c.-18-21T= (n.-18-21T=) n.13T= |