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 |
|---|---|---|---|---|---|
| 12 | g.57567390_57567417del | CA2619470212 | KIF5A | c.590-104_590-77del (n.590-104_590-77del) c.485-104_485-77del (n.485-104_485-77del) c.323-104_323-77del (n.323-104_323-77del) n.823-104_823-77del | gnomAD v4 |
| 12 | g.57567409_57567417del | CA2619470283 | KIF5A | c.590-85_590-77del (n.590-85_590-77del) c.485-85_485-77del (n.485-85_485-77del) c.323-85_323-77del (n.323-85_323-77del) n.823-85_823-77del | gnomAD v4 |
| 12 | g.57567414_57567418del | CA2619470312 | KIF5A | c.590-80_590-76del (n.590-80_590-76del) c.485-80_485-76del (n.485-80_485-76del) c.323-80_323-76del (n.323-80_323-76del) n.823-80_823-76del | gnomAD v4 |
| 12 | g.57567414_57567417del | CA2619470314 | KIF5A | c.590-80_590-77del (n.590-80_590-77del) c.485-80_485-77del (n.485-80_485-77del) c.323-80_323-77del (n.323-80_323-77del) n.823-80_823-77del | gnomAD v4 |
| 12 | g.57567413_57567415delinsGCT | CA2038921426 | KIF5A | c.590-81_590-79delinsGCT (n.590-81_590-79delinsGCT) c.485-81_485-79delinsGCT (n.485-81_485-79delinsGCT) c.323-81_323-79delinsGCT (n.323-81_323-79delinsGCT) n.823-81_823-79delinsGCT | |
| 12 | g.57567414_57567416del | CA2619470321 | KIF5A | c.590-80_590-78del (n.590-80_590-78del) c.485-80_485-78del (n.485-80_485-78del) c.323-80_323-78del (n.323-80_323-78del) n.823-80_823-78del | gnomAD v4 |
| 12 | g.57567414_57567415del | CA948103851 | KIF5A | c.590-80_590-79del (n.590-80_590-79del) c.485-80_485-79del (n.485-80_485-79del) c.323-80_323-79del (n.323-80_323-79del) n.823-80_823-79del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567415T>G | CA605309934 | KIF5A | c.590-79T>G (n.590-79T>G) c.485-79T>G (n.485-79T>G) c.323-79T>G (n.323-79T>G) n.823-79T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.57567415T= | CA2038921441 | KIF5A | c.590-79T= (n.590-79T=) c.485-79T= (n.485-79T=) c.323-79T= (n.323-79T=) n.823-79T= | |
| 12 | g.57567415_57567417delinsTGG | CA2038921442 | KIF5A | c.590-79_590-77delinsTGG (n.590-79_590-77delinsTGG) c.485-79_485-77delinsTGG (n.485-79_485-77delinsTGG) c.323-79_323-77delinsTGG (n.323-79_323-77delinsTGG) n.823-79_823-77delinsTGG | |
| 12 | g.57567416_57567420del | CA2619470349 | KIF5A | c.590-78_590-74del (n.590-78_590-74del) c.485-78_485-74del (n.485-78_485-74del) c.323-78_323-74del (n.323-78_323-74del) n.823-78_823-74del | gnomAD v4 |
| 12 | g.57567415_57567416insTTCTTTGGGGGGGGGGGGGGGG | CA2597295622 | KIF5A | c.590-79_590-78insTTCTTTGGGGGGGGGGGGGGGG (n.590-79_590-78insTTCTTTGGGGGGGGGGGGGGGG) c.485-79_485-78insTTCTTTGGGGGGGGGGGGGGGG (n.485-79_485-78insTTCTTTGGGGGGGGGGGGGGGG) c.323-79_323-78insTTCTTTGGGGGGGGGGGGGGGG (n.323-79_323-78insTTCTTTGGGGGGGGGGGGGGGG) n.823-79_823-78insTTCTTTGGGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
| 12 | g.57567416G>A | CA2619470360 | KIF5A | c.590-78G>A (n.590-78G>A) c.485-78G>A (n.485-78G>A) c.323-78G>A (n.323-78G>A) n.823-78G>A | gnomAD v4 |
| 12 | g.57567416G>C | CA2619470358 | KIF5A | c.590-78G>C (n.590-78G>C) c.485-78G>C (n.485-78G>C) c.323-78G>C (n.323-78G>C) n.823-78G>C | gnomAD v4 |
| 12 | g.57567416G>T | CA2619470357 | KIF5A | c.590-78G>T (n.590-78G>T) c.485-78G>T (n.485-78G>T) c.323-78G>T (n.323-78G>T) n.823-78G>T | gnomAD v4 |
| 12 | g.57567419_57567420insGGGGG | CA2540407113 | KIF5A | c.590-75_590-74insGGGGG (n.590-75_590-74insGGGGG) c.485-75_485-74insGGGGG (n.485-75_485-74insGGGGG) c.323-75_323-74insGGGGG (n.323-75_323-74insGGGGG) n.823-75_823-74insGGGGG | |
| 12 | g.57567419_57567420insGGGGGGGG | CA948103857 | KIF5A | c.590-75_590-74insGGGGGGGG (n.590-75_590-74insGGGGGGGG) c.485-75_485-74insGGGGGGGG (n.485-75_485-74insGGGGGGGG) c.323-75_323-74insGGGGGGGG (n.323-75_323-74insGGGGGGGG) n.823-75_823-74insGGGGGGGG | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567419_57567420insGGGGGGGGG | CA2597295621 | KIF5A | c.590-75_590-74insGGGGGGGGG (n.590-75_590-74insGGGGGGGGG) c.485-75_485-74insGGGGGGGGG (n.485-75_485-74insGGGGGGGGG) c.323-75_323-74insGGGGGGGGG (n.323-75_323-74insGGGGGGGGG) n.823-75_823-74insGGGGGGGGG | gnomAD v3 gnomAD v4 |
| 12 | g.57567419_57567420insGGGGGGGGGG | CA2619470379 | KIF5A | c.590-75_590-74insGGGGGGGGGG (n.590-75_590-74insGGGGGGGGGG) c.485-75_485-74insGGGGGGGGGG (n.485-75_485-74insGGGGGGGGGG) c.323-75_323-74insGGGGGGGGGG (n.323-75_323-74insGGGGGGGGGG) n.823-75_823-74insGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419_57567420insGGGGGGGGGGGGGGGG | CA2619470372 | KIF5A | c.590-75_590-74insGGGGGGGGGGGGGGGG (n.590-75_590-74insGGGGGGGGGGGGGGGG) c.485-75_485-74insGGGGGGGGGGGGGGGG (n.485-75_485-74insGGGGGGGGGGGGGGGG) c.323-75_323-74insGGGGGGGGGGGGGGGG (n.323-75_323-74insGGGGGGGGGGGGGGGG) n.823-75_823-74insGGGGGGGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419_57567420insGTTTTTGGGGGGGGGGGGGGGGGGGG | CA2619470367 | KIF5A | c.590-75_590-74insGTTTTTGGGGGGGGGGGGGGGGGGGG (n.590-75_590-74insGTTTTTGGGGGGGGGGGGGGGGGGGG) c.485-75_485-74insGTTTTTGGGGGGGGGGGGGGGGGGGG (n.485-75_485-74insGTTTTTGGGGGGGGGGGGGGGGGGGG) c.323-75_323-74insGTTTTTGGGGGGGGGGGGGGGGGGGG (n.323-75_323-74insGTTTTTGGGGGGGGGGGGGGGGGGGG) n.823-75_823-74insGTTTTTGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419_57567420insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG | CA2619470375 | KIF5A | c.590-75_590-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG (n.590-75_590-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG) c.485-75_485-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG (n.485-75_485-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG) c.323-75_323-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG (n.323-75_323-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG) n.823-75_823-74insGGGGGGGCCCCTTTTTTTGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419_57567420insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG | CA2619470376 | KIF5A | c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG (n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG) c.485-75_485-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG (n.485-75_485-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG) c.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG (n.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG) n.823-75_823-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419_57567420insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG | CA2619470381 | KIF5A | c.590-75_590-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG (n.590-75_590-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG) c.485-75_485-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG (n.485-75_485-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG) c.323-75_323-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG (n.323-75_323-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG) n.823-75_823-74insGTTTTGGGGGGGGGGCAACTTTCTCTGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419_57567420insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG | CA2619470371 | KIF5A | c.590-75_590-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG (n.590-75_590-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG) c.485-75_485-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG (n.485-75_485-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG) c.323-75_323-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG (n.323-75_323-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG) n.823-75_823-74insGGTTTTGGGGGGGGGCCCCTTTCTGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 12 | g.57567419dup | CA948103858 | KIF5A | c.590-75dup (n.590-75dup) c.485-75dup (n.485-75dup) c.323-75dup (n.323-75dup) n.823-75dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567416_57567419dup | CA948103860 | KIF5A | c.590-78_590-75dup (n.590-78_590-75dup) c.485-78_485-75dup (n.485-78_485-75dup) c.323-78_323-75dup (n.323-78_323-75dup) n.823-78_823-75dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567419del | CA2619470361 | KIF5A | c.590-75del (n.590-75del) c.485-75del (n.485-75del) c.323-75del (n.323-75del) n.823-75del | gnomAD v4 |
| 12 | g.57567418_57567419del | CA948103856 | KIF5A | c.590-76_590-75del (n.590-76_590-75del) c.485-76_485-75del (n.485-76_485-75del) c.323-76_323-75del (n.323-76_323-75del) n.823-76_823-75del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567417G>A | CA2619470386 | KIF5A | c.590-77G>A (n.590-77G>A) c.485-77G>A (n.485-77G>A) c.323-77G>A (n.323-77G>A) n.823-77G>A | gnomAD v4 |
| 12 | g.57567417G>T | CA2619470387 | KIF5A | c.590-77G>T (n.590-77G>T) c.485-77G>T (n.485-77G>T) c.323-77G>T (n.323-77G>T) n.823-77G>T | gnomAD v4 |
| 12 | g.57567417_57567440delinsGGGTCAGTGGAAGCCGGGGGCTGA | CA2038921444 | KIF5A | c.590-77_590-54delinsGGGTCAGTGGAAGCCGGGGGCTGA (n.590-77_590-54delinsGGGTCAGTGGAAGCCGGGGGCTGA) c.485-77_485-54delinsGGGTCAGTGGAAGCCGGGGGCTGA (n.485-77_485-54delinsGGGTCAGTGGAAGCCGGGGGCTGA) c.323-77_323-54delinsGGGTCAGTGGAAGCCGGGGGCTGA (n.323-77_323-54delinsGGGTCAGTGGAAGCCGGGGGCTGA) n.823-77_823-54delinsGGGTCAGTGGAAGCCGGGGGCTGA | |
| 12 | g.57567418G>A | CA948103861 | KIF5A | c.590-76G>A (n.590-76G>A) c.485-76G>A (n.485-76G>A) c.323-76G>A (n.323-76G>A) n.823-76G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567418G= | CA2038921447 | KIF5A | c.590-76G= (n.590-76G=) c.485-76G= (n.485-76G=) c.323-76G= (n.323-76G=) n.823-76G= | |
| 12 | g.57567420_57567442del | CA2038921445 | KIF5A | c.590-74_590-52del (n.590-74_590-52del) c.485-74_485-52del (n.485-74_485-52del) c.323-74_323-52del (n.323-74_323-52del) n.823-74_823-52del | dbSNP gnomAD v4 |
| 12 | g.57567419G>A | CA2038921451 | KIF5A | c.590-75G>A (n.590-75G>A) c.485-75G>A (n.485-75G>A) c.323-75G>A (n.323-75G>A) n.823-75G>A | dbSNP |
| 12 | g.57567419G>C | CA2619470389 | KIF5A | c.590-75G>C (n.590-75G>C) c.485-75G>C (n.485-75G>C) c.323-75G>C (n.323-75G>C) n.823-75G>C | gnomAD v4 |
| 12 | g.57567419G= | CA2038921449 | KIF5A | c.590-75G= (n.590-75G=) c.485-75G= (n.485-75G=) c.323-75G= (n.323-75G=) n.823-75G= | |
| 12 | g.57567420T>C | CA948103863 | KIF5A | c.590-74T>C (n.590-74T>C) c.485-74T>C (n.485-74T>C) c.323-74T>C (n.323-74T>C) n.823-74T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567420T= | CA2038921452 | KIF5A | c.590-74T= (n.590-74T=) c.485-74T= (n.485-74T=) c.323-74T= (n.323-74T=) n.823-74T= | |
| 12 | g.57567421C>A | CA2619470392 | KIF5A | c.590-73C>A (n.590-73C>A) c.485-73C>A (n.485-73C>A) c.323-73C>A (n.323-73C>A) n.823-73C>A | gnomAD v4 |
| 12 | g.57567422A>G | CA2619470393 | KIF5A | c.590-72A>G (n.590-72A>G) c.485-72A>G (n.485-72A>G) c.323-72A>G (n.323-72A>G) n.823-72A>G | gnomAD v4 |
| 12 | g.57567423G>A | CA948103865 | KIF5A | c.590-71G>A (n.590-71G>A) c.485-71G>A (n.485-71G>A) c.323-71G>A (n.323-71G>A) n.823-71G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57567423G= | CA2038921455 | KIF5A | c.590-71G= (n.590-71G=) c.485-71G= (n.485-71G=) c.323-71G= (n.323-71G=) n.823-71G= | |
| 12 | g.57567423G>T | CA2619470394 | KIF5A | c.590-71G>T (n.590-71G>T) c.485-71G>T (n.485-71G>T) c.323-71G>T (n.323-71G>T) n.823-71G>T | gnomAD v4 |
| 12 | g.57567425G>A | CA237782170 | KIF5A | c.590-69G>A (n.590-69G>A) c.485-69G>A (n.485-69G>A) c.323-69G>A (n.323-69G>A) n.823-69G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.57567425G= | CA2038921460 | KIF5A | c.590-69G= (n.590-69G=) c.485-69G= (n.485-69G=) c.323-69G= (n.323-69G=) n.823-69G= | |
| 12 | g.57567426del | CA2575203703 | KIF5A | c.590-68del (n.590-68del) c.485-68del (n.485-68del) c.323-68del (n.323-68del) n.823-68del | |
| 12 | g.57567428A>C | CA2619470395 | KIF5A | c.590-66A>C (n.590-66A>C) c.485-66A>C (n.485-66A>C) c.323-66A>C (n.323-66A>C) n.823-66A>C | gnomAD v4 |
| 12 | g.57567429del | CA2619470398 | KIF5A | c.590-65del (n.590-65del) c.485-65del (n.485-65del) c.323-65del (n.323-65del) n.823-65del | gnomAD v4 |