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.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.5227094_5227124del | CA2612162299 | HBB | c.-96_-66del (n.-96_-66del) c.-18-78_-18-48del (n.-18-78_-18-48del) | gnomAD v4 |
| 11 | g.5227102T>A | CA2579829173 | HBB | c.-81A>T (n.-81A>T) c.-18-63A>T (n.-18-63A>T) | |
| 11 | g.5227102T>C | CA125325 | HBB | c.-81A>G (n.-81A>G) c.-18-63A>G (n.-18-63A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227102T>G | CA217115782 | HBB | c.-81A>C (n.-81A>C) c.-18-63A>C (n.-18-63A>C) | dbSNP |
| 11 | g.5227102T= | CA1949571610 | HBB | c.-81A= (n.-81A=) c.-18-63A= (n.-18-63A=) | |
| 11 | g.5227103G>A | CA217115785 | HBB | c.-82C>T (n.-82C>T) c.-18-64C>T (n.-18-64C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227103G>C | CA2579829174 | HBB | c.-82C>G (n.-82C>G) c.-18-64C>G (n.-18-64C>G) | |
| 11 | g.5227103G= | CA1949571618 | HBB | c.-82C= (n.-82C=) c.-18-64C= (n.-18-64C=) | |
| 11 | g.5227103G>T | CA125354 | HBB | c.-82C>A (n.-82C>A) c.-18-64C>A (n.-18-64C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227104C>A | CA597436144 | HBB | c.-83G>T (n.-83G>T) c.-18-65G>T (n.-18-65G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227104C= | CA1949571626 | HBB | c.-83G= (n.-83G=) c.-18-65G= (n.-18-65G=) | |
| 11 | g.5227104C>G | CA2579829175 | HBB | c.-83G>C (n.-83G>C) c.-18-65G>C (n.-18-65G>C) | |
| 11 | g.5227104C>T | CA677538209 | HBB | c.-83G>A (n.-83G>A) c.-18-65G>A (n.-18-65G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227106del | CA2574735717 | HBB | c.-83del (n.-83del) c.-18-65del (n.-18-65del) | |
| 11 | g.5227105C>A | CA2579829177 | HBB | c.-84G>T (n.-84G>T) c.-18-66G>T (n.-18-66G>T) | gnomAD v4 |
| 11 | g.5227105C>G | CA2579829178 | HBB | c.-84G>C (n.-84G>C) c.-18-66G>C (n.-18-66G>C) | |
| 11 | g.5227105C>T | CA2579829180 | HBB | c.-84G>A (n.-84G>A) c.-18-66G>A (n.-18-66G>A) | gnomAD v4 |
| 11 | g.5227106C>A | CA2574735718 | HBB | c.-85G>T (n.-85G>T) c.-18-67G>T (n.-18-67G>T) | |
| 11 | g.5227106C= | CA2579829179 | HBB | c.-85G= (n.-85G=) c.-18-67G= (n.-18-67G=) | |
| 11 | g.5227106C>G | CA2579829181 | HBB | c.-85G>C (n.-85G>C) c.-18-67G>C (n.-18-67G>C) | |
| 11 | g.5227106C>T | CA2579829183 | HBB | c.-85G>A (n.-85G>A) c.-18-67G>A (n.-18-67G>A) | gnomAD v4 |
| 11 | g.5227107A>C | CA2579829182 | HBB | c.-86T>G (n.-86T>G) c.-18-68T>G (n.-18-68T>G) | |
| 11 | g.5227107A>G | CA2579829184 | HBB | c.-86T>C (n.-86T>C) c.-18-68T>C (n.-18-68T>C) | gnomAD v4 |
| 11 | g.5227107A>T | CA2579829186 | HBB | c.-86T>A (n.-86T>A) c.-18-68T>A (n.-18-68T>A) | |
| 11 | g.5227108G>A | CA2579829187 | HBB | c.-87C>T (n.-87C>T) c.-18-69C>T (n.-18-69C>T) | |
| 11 | g.5227108G>C | CA2579829188 | HBB | c.-87C>G (n.-87C>G) c.-18-69C>G (n.-18-69C>G) | |
| 11 | g.5227108G>T | CA2579829190 | HBB | c.-87C>A (n.-87C>A) c.-18-69C>A (n.-18-69C>A) | gnomAD v4 |
| 11 | g.5227109C>A | CA2531339858 | HBB | c.-88G>T (n.-88G>T) c.-18-70G>T (n.-18-70G>T) | gnomAD v4 |
| 11 | g.5227109C>G | CA2579829189 | HBB | c.-88G>C (n.-88G>C) c.-18-70G>C (n.-18-70G>C) | |
| 11 | g.5227109C>T | CA2579829191 | HBB | c.-88G>A (n.-88G>A) c.-18-70G>A (n.-18-70G>A) | gnomAD v4 |
| 11 | g.5227111del | CA2695213081 | HBB | c.-88del (n.-88del) c.-18-70del (n.-18-70del) | |
| 11 | g.5227110C>A | CA2579829192 | HBB | c.-89G>T (n.-89G>T) c.-18-71G>T (n.-18-71G>T) | gnomAD v4 |
| 11 | g.5227110C= | CA1949571629 | HBB | c.-89G= (n.-89G=) c.-18-71G= (n.-18-71G=) |