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.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.5227078T>A | CA2579829119 | HBB | c.-57A>T (n.-57A>T) c.-18-39A>T (n.-18-39A>T) | |
| 11 | g.5227078T>C | CA677538137 | HBB | c.-57A>G (n.-57A>G) c.-18-39A>G (n.-18-39A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227078T>G | CA2579829121 | HBB | c.-57A>C (n.-57A>C) c.-18-39A>C (n.-18-39A>C) | |
| 11 | g.5227078T= | CA1949571487 | HBB | c.-57A= (n.-57A=) c.-18-39A= (n.-18-39A=) | |
| 11 | g.5227079A>C | CA2579829122 | HBB | c.-58T>G (n.-58T>G) c.-18-40T>G (n.-18-40T>G) | |
| 11 | g.5227079A>G | CA2579829123 | HBB | c.-58T>C (n.-58T>C) c.-18-40T>C (n.-18-40T>C) | |
| 11 | g.5227079A>T | CA2579829124 | HBB | c.-58T>A (n.-58T>A) c.-18-40T>A (n.-18-40T>A) | |
| 11 | g.5227080G>A | CA2579829126 | HBB | c.-59C>T (n.-59C>T) c.-18-41C>T (n.-18-41C>T) | gnomAD v4 |
| 11 | g.5227080G>C | CA2579829127 | HBB | c.-59C>G (n.-59C>G) c.-18-41C>G (n.-18-41C>G) | |
| 11 | g.5227080G>T | CA2579829128 | HBB | c.-59C>A (n.-59C>A) c.-18-41C>A (n.-18-41C>A) | gnomAD v4 |
| 11 | g.5227081A>C | CA2579829129 | HBB | c.-60T>G (n.-60T>G) c.-18-42T>G (n.-18-42T>G) | |
| 11 | g.5227081A>G | CA2556123111 | HBB | c.-60T>C (n.-60T>C) c.-18-42T>C (n.-18-42T>C) | gnomAD v4 |
| 11 | g.5227081A>T | CA2579829130 | HBB | c.-60T>A (n.-60T>A) c.-18-42T>A (n.-18-42T>A) | |
| 11 | g.5227082T>A | CA2579829131 | HBB | c.-61A>T (n.-61A>T) c.-18-43A>T (n.-18-43A>T) | |
| 11 | g.5227082T>C | CA2579829132 | HBB | c.-61A>G (n.-61A>G) c.-18-43A>G (n.-18-43A>G) | |
| 11 | g.5227082T>G | CA2579829133 | HBB | c.-61A>C (n.-61A>C) c.-18-43A>C (n.-18-43A>C) | |
| 11 | g.5227083G>A | CA217115726 | HBB | c.-62C>T (n.-62C>T) c.-18-44C>T (n.-18-44C>T) | dbSNP gnomAD v4 |
| 11 | g.5227083G>C | CA2579829136 | HBB | c.-62C>G (n.-62C>G) c.-18-44C>G (n.-18-44C>G) | |
| 11 | g.5227083G= | CA1949571490 | HBB | c.-62C= (n.-62C=) c.-18-44C= (n.-18-44C=) | |
| 11 | g.5227083G>T | CA2579829137 | HBB | c.-62C>A (n.-62C>A) c.-18-44C>A (n.-18-44C>A) | |
| 11 | g.5227084G>A | CA2579829139 | HBB | c.-63C>T (n.-63C>T) c.-18-45C>T (n.-18-45C>T) | |
| 11 | g.5227084G>C | CA2579829140 | HBB | c.-63C>G (n.-63C>G) c.-18-45C>G (n.-18-45C>G) | |
| 11 | g.5227084G= | CA2579829138 | HBB | c.-63C= (n.-63C=) c.-18-45C= (n.-18-45C=) | |
| 11 | g.5227084G>T | CA2579829142 | HBB | c.-63C>A (n.-63C>A) c.-18-45C>A (n.-18-45C>A) | gnomAD v4 |
| 11 | g.5227085C>A | CA2579829141 | HBB | c.-64G>T (n.-64G>T) c.-18-46G>T (n.-18-46G>T) | |
| 11 | g.5227085C= | CA1949571493 | HBB | c.-64G= (n.-64G=) c.-18-46G= (n.-18-46G=) | |
| 11 | g.5227085C>G | CA2579829143 | HBB | c.-64G>C (n.-64G>C) c.-18-46G>C (n.-18-46G>C) | |
| 11 | g.5227085C>T | CA1949571495 | HBB | c.-64G>A (n.-64G>A) c.-18-46G>A (n.-18-46G>A) | dbSNP |
| 11 | g.5227086T>A | CA2579829144 | HBB | c.-65A>T (n.-65A>T) c.-18-47A>T (n.-18-47A>T) | |
| 11 | g.5227086T>C | CA2579829146 | HBB | c.-65A>G (n.-65A>G) c.-18-47A>G (n.-18-47A>G) | |
| 11 | g.5227086T>G | CA2579829147 | HBB | c.-65A>C (n.-65A>C) c.-18-47A>C (n.-18-47A>C) |