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 |
|---|---|---|---|---|---|
| 18 | g.31598039_31598579delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | CA2293889082 | TTR | c.337-529_348delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.241-529_252delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.431-34_462delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | |
| 18 | g.31598041_31598580del | CA916081932 | TTR | c.337-527_349del c.241-527_253del c.431-32_463del | ClinVar dbSNP |
| 18 | g.31598500_31598502del | CA2641410483 | TTR | c.337-68_337-66del (n.337-68_337-66del) c.241-68_241-66del (n.241-68_241-66del) c.451-68_451-66del (n.451-68_451-66del) | gnomAD v4 |
| 18 | g.31598502C>A | CA2576480663 | TTR | c.337-66C>A (n.337-66C>A) c.241-66C>A (n.241-66C>A) c.451-66C>A (n.451-66C>A) | gnomAD v4 |
| 18 | g.31598502C>T | CA2739580341 | TTR | c.337-66C>T (n.337-66C>T) c.241-66C>T (n.241-66C>T) c.451-66C>T (n.451-66C>T) | |
| 18 | g.31598503A>G | CA2641410485 | TTR | c.337-65A>G (n.337-65A>G) c.241-65A>G (n.241-65A>G) c.451-65A>G (n.451-65A>G) | gnomAD v4 |
| 18 | g.31598503A>T | CA2576480664 | TTR | c.337-65A>T (n.337-65A>T) c.241-65A>T (n.241-65A>T) c.451-65A>T (n.451-65A>T) | |
| 18 | g.31598504T>A | CA2739580342 | TTR | c.337-64T>A (n.337-64T>A) c.241-64T>A (n.241-64T>A) c.451-64T>A (n.451-64T>A) | |
| 18 | g.31598504T>C | CA2739580343 | TTR | c.337-64T>C (n.337-64T>C) c.241-64T>C (n.241-64T>C) c.451-64T>C (n.451-64T>C) | |
| 18 | g.31598504T>G | CA2739580344 | TTR | c.337-64T>G (n.337-64T>G) c.241-64T>G (n.241-64T>G) c.451-64T>G (n.451-64T>G) | |
| 18 | g.31598508T>A | CA2293889289 | TTR | c.337-60T>A (n.337-60T>A) c.241-60T>A (n.241-60T>A) c.451-60T>A (n.451-60T>A) | dbSNP |
| 18 | g.31598508T>G | CA2641410486 | TTR | c.337-60T>G (n.337-60T>G) c.241-60T>G (n.241-60T>G) c.451-60T>G (n.451-60T>G) | gnomAD v4 |
| 18 | g.31598508T= | CA2293889290 | TTR | c.337-60T= (n.337-60T=) c.241-60T= (n.241-60T=) c.451-60T= (n.451-60T=) | |
| 18 | g.31598509G>T | CA2641410487 | TTR | c.337-59G>T (n.337-59G>T) c.241-59G>T (n.241-59G>T) c.451-59G>T (n.451-59G>T) | gnomAD v4 |
| 18 | g.31598511C>A | CA2641410488 | TTR | c.337-57C>A (n.337-57C>A) c.241-57C>A (n.241-57C>A) c.451-57C>A (n.451-57C>A) | gnomAD v4 |
| 18 | g.31598512A= | CA2293889291 | TTR | c.337-56A= (n.337-56A=) c.241-56A= (n.241-56A=) c.451-56A= (n.451-56A=) | |
| 18 | g.31598512A>G | CA2641410489 | TTR | c.337-56A>G (n.337-56A>G) c.241-56A>G (n.241-56A>G) c.451-56A>G (n.451-56A>G) | gnomAD v4 |
| 18 | g.31598512A>T | CA629155250 | TTR | c.337-56A>T (n.337-56A>T) c.241-56A>T (n.241-56A>T) c.451-56A>T (n.451-56A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598513T>C | CA2641410490 | TTR | c.337-55T>C (n.337-55T>C) c.241-55T>C (n.241-55T>C) c.451-55T>C (n.451-55T>C) | gnomAD v4 |
| 18 | g.31598514C>T | CA2641410491 | TTR | c.337-54C>T (n.337-54C>T) c.241-54C>T (n.241-54C>T) c.451-54C>T (n.451-54C>T) | gnomAD v4 |
| 18 | g.31598515T>C | CA2591707197 | TTR | c.337-53T>C (n.337-53T>C) c.241-53T>C (n.241-53T>C) c.451-53T>C (n.451-53T>C) | gnomAD v3 gnomAD v4 |
| 18 | g.31598515T>G | CA2641410492 | TTR | c.337-53T>G (n.337-53T>G) c.241-53T>G (n.241-53T>G) c.451-53T>G (n.451-53T>G) | gnomAD v4 |
| 18 | g.31598518C>A | CA2504456559 | TTR | c.337-50C>A (n.337-50C>A) c.241-50C>A (n.241-50C>A) c.451-50C>A (n.451-50C>A) | |
| 18 | g.31598519dup | CA2641410493 | TTR | c.337-49dup (n.337-49dup) c.241-49dup (n.241-49dup) c.451-49dup (n.451-49dup) | gnomAD v4 |
| 18 | g.31598520C= | CA2293889292 | TTR | c.337-48C= (n.337-48C=) c.241-48C= (n.241-48C=) c.451-48C= (n.451-48C=) | |
| 18 | g.31598520C>T | CA8928484 | TTR | c.337-48C>T (n.337-48C>T) c.241-48C>T (n.241-48C>T) c.451-48C>T (n.451-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598521G>A | CA8928485 | TTR | c.337-47G>A (n.337-47G>A) c.241-47G>A (n.241-47G>A) c.451-47G>A (n.451-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598521G= | CA2293889293 | TTR | c.337-47G= (n.337-47G=) c.241-47G= (n.241-47G=) c.451-47G= (n.451-47G=) | |
| 18 | g.31598521G>T | CA297741729 | TTR | c.337-47G>T (n.337-47G>T) c.241-47G>T (n.241-47G>T) c.451-47G>T (n.451-47G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598522T>A | CA2739580345 | TTR | c.337-46T>A (n.337-46T>A) c.241-46T>A (n.241-46T>A) c.451-46T>A (n.451-46T>A) | |
| 18 | g.31598522T>C | CA2739580346 | TTR | c.337-46T>C (n.337-46T>C) c.241-46T>C (n.241-46T>C) c.451-46T>C (n.451-46T>C) | |
| 18 | g.31598522T>G | CA2739580347 | TTR | c.337-46T>G (n.337-46T>G) c.241-46T>G (n.241-46T>G) c.451-46T>G (n.451-46T>G) | |
| 18 | g.31598525_31598526dup | CA2641410494 | TTR | c.337-43_337-42dup (n.337-43_337-42dup) c.241-43_241-42dup (n.241-43_241-42dup) c.451-43_451-42dup (n.451-43_451-42dup) | gnomAD v4 |
| 18 | g.31598526del | CA2641410495 | TTR | c.337-42del (n.337-42del) c.241-42del (n.241-42del) c.451-42del (n.451-42del) | gnomAD v4 |
| 18 | g.31598523T>A | CA2739580348 | TTR | c.337-45T>A (n.337-45T>A) c.241-45T>A (n.241-45T>A) c.451-45T>A (n.451-45T>A) | |
| 18 | g.31598523T>G | CA2739580349 | TTR | c.337-45T>G (n.337-45T>G) c.241-45T>G (n.241-45T>G) c.451-45T>G (n.451-45T>G) | |
| 18 | g.31598524T>A | CA2739580351 | TTR | c.337-44T>A (n.337-44T>A) c.241-44T>A (n.241-44T>A) c.451-44T>A (n.451-44T>A) | |
| 18 | g.31598524T>C | CA2739580350 | TTR | c.337-44T>C (n.337-44T>C) c.241-44T>C (n.241-44T>C) c.451-44T>C (n.451-44T>C) | |
| 18 | g.31598524T>G | CA2641410496 | TTR | c.337-44T>G (n.337-44T>G) c.241-44T>G (n.241-44T>G) c.451-44T>G (n.451-44T>G) | gnomAD v4 |
| 18 | g.31598525T>A | CA2739580352 | TTR | c.337-43T>A (n.337-43T>A) c.241-43T>A (n.241-43T>A) c.451-43T>A (n.451-43T>A) | |
| 18 | g.31598525T>C | CA2293889295 | TTR | c.337-43T>C (n.337-43T>C) c.241-43T>C (n.241-43T>C) c.451-43T>C (n.451-43T>C) | dbSNP |
| 18 | g.31598525T>G | CA2739580353 | TTR | c.337-43T>G (n.337-43T>G) c.241-43T>G (n.241-43T>G) c.451-43T>G (n.451-43T>G) | |
| 18 | g.31598525T= | CA2293889294 | TTR | c.337-43T= (n.337-43T=) c.241-43T= (n.241-43T=) c.451-43T= (n.451-43T=) | |
| 18 | g.31598526T>A | CA2739580354 | TTR | c.337-42T>A (n.337-42T>A) c.241-42T>A (n.241-42T>A) c.451-42T>A (n.451-42T>A) | |
| 18 | g.31598526T>G | CA2739580355 | TTR | c.337-42T>G (n.337-42T>G) c.241-42T>G (n.241-42T>G) c.451-42T>G (n.451-42T>G) | |
| 18 | g.31598527C>A | CA2556372458 | TTR | c.337-41C>A (n.337-41C>A) c.241-41C>A (n.241-41C>A) c.451-41C>A (n.451-41C>A) | |
| 18 | g.31598527C= | CA2293889296 | TTR | c.337-41C= (n.337-41C=) c.241-41C= (n.241-41C=) c.451-41C= (n.451-41C=) | |
| 18 | g.31598527C>G | CA2739580356 | TTR | c.337-41C>G (n.337-41C>G) c.241-41C>G (n.241-41C>G) c.451-41C>G (n.451-41C>G) | |
| 18 | g.31598527C>T | CA8928486 | TTR | c.337-41C>T (n.337-41C>T) c.241-41C>T (n.241-41C>T) c.451-41C>T (n.451-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598528G>A | CA8928487 | TTR | c.337-40G>A (n.337-40G>A) c.241-40G>A (n.241-40G>A) c.451-40G>A (n.451-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |