UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.31598434del | CA2641410455 | TTR | c.337-134del (n.337-134del) c.241-134del (n.241-134del) c.451-134del (n.451-134del) | gnomAD v4 |
| 18 | g.31598434G>C | CA2812000698 | TTR | c.337-134G>C (n.337-134G>C) c.241-134G>C (n.241-134G>C) c.451-134G>C (n.451-134G>C) | |
| 18 | g.31598434G>T | CA2641410456 | TTR | c.337-134G>T (n.337-134G>T) c.241-134G>T (n.241-134G>T) c.451-134G>T (n.451-134G>T) | gnomAD v4 |
| 18 | g.31598435T>C | CA2641410457 | TTR | c.337-133T>C (n.337-133T>C) c.241-133T>C (n.241-133T>C) c.451-133T>C (n.451-133T>C) | gnomAD v4 |
| 18 | g.31598436T>C | CA2641410458 | TTR | c.337-132T>C (n.337-132T>C) c.241-132T>C (n.241-132T>C) c.451-132T>C (n.451-132T>C) | gnomAD v4 |
| 18 | g.31598437C>A | CA2641410459 | TTR | c.337-131C>A (n.337-131C>A) c.241-131C>A (n.241-131C>A) c.451-131C>A (n.451-131C>A) | gnomAD v4 |
| 18 | g.31598437C= | CA2293889253 | TTR | c.337-131C= (n.337-131C=) c.241-131C= (n.241-131C=) c.451-131C= (n.451-131C=) | |
| 18 | g.31598437C>T | CA778418135 | TTR | c.337-131C>T (n.337-131C>T) c.241-131C>T (n.241-131C>T) c.451-131C>T (n.451-131C>T) | dbSNP |
| 18 | g.31598440A= | CA2293889254 | TTR | c.337-128A= (n.337-128A=) c.241-128A= (n.241-128A=) c.451-128A= (n.451-128A=) | |
| 18 | g.31598441C>A | CA2641410460 | TTR | c.337-127C>A (n.337-127C>A) c.241-127C>A (n.241-127C>A) c.451-127C>A (n.451-127C>A) | gnomAD v4 |
| 18 | g.31598442_31598443insATAACTTCT | CA778418137 | TTR | c.337-126_337-125insATAACTTCT (n.337-126_337-125insATAACTTCT) c.241-126_241-125insATAACTTCT (n.241-126_241-125insATAACTTCT) c.451-126_451-125insATAACTTCT (n.451-126_451-125insATAACTTCT) | dbSNP |
| 18 | g.31598442_31598443insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT | CA629155225 | TTR | c.337-126_337-125insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT (n.337-126_337-125insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT) c.241-126_241-125insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT (n.241-126_241-125insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT) c.451-126_451-125insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT (n.451-126_451-125insATAACTTCTGTTCCAAAATATAAAAGAATATATTTCCTTCT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598442T>C | CA2641410461 | TTR | c.337-126T>C (n.337-126T>C) c.241-126T>C (n.241-126T>C) c.451-126T>C (n.451-126T>C) | gnomAD v4 |
| 18 | g.31598443G>A | CA2641410462 | TTR | c.337-125G>A (n.337-125G>A) c.241-125G>A (n.241-125G>A) c.451-125G>A (n.451-125G>A) | gnomAD v4 |
| 18 | g.31598443G>T | CA2641410463 | TTR | c.337-125G>T (n.337-125G>T) c.241-125G>T (n.241-125G>T) c.451-125G>T (n.451-125G>T) | gnomAD v4 |
| 18 | g.31598444T>C | CA2812000699 | TTR | c.337-124T>C (n.337-124T>C) c.241-124T>C (n.241-124T>C) c.451-124T>C (n.451-124T>C) | |
| 18 | g.31598445del | CA2641410464 | TTR | c.337-123del (n.337-123del) c.241-123del (n.241-123del) c.451-123del (n.451-123del) | gnomAD v4 |
| 18 | g.31598445T>A | CA2641410465 | TTR | c.337-123T>A (n.337-123T>A) c.241-123T>A (n.241-123T>A) c.451-123T>A (n.451-123T>A) | gnomAD v4 |
| 18 | g.31598445T>C | CA629155227 | TTR | c.337-123T>C (n.337-123T>C) c.241-123T>C (n.241-123T>C) c.451-123T>C (n.451-123T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598445T= | CA2293889255 | TTR | c.337-123T= (n.337-123T=) c.241-123T= (n.241-123T=) c.451-123T= (n.451-123T=) | |
| 18 | g.31598446C>A | CA629155229 | TTR | c.337-122C>A (n.337-122C>A) c.241-122C>A (n.241-122C>A) c.451-122C>A (n.451-122C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598446C= | CA2293889256 | TTR | c.337-122C= (n.337-122C=) c.241-122C= (n.241-122C=) c.451-122C= (n.451-122C=) | |
| 18 | g.31598446C>G | CA629155230 | TTR | c.337-122C>G (n.337-122C>G) c.241-122C>G (n.241-122C>G) c.451-122C>G (n.451-122C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598446C>T | CA2641410466 | TTR | c.337-122C>T (n.337-122C>T) c.241-122C>T (n.241-122C>T) c.451-122C>T (n.451-122C>T) | gnomAD v4 |
| 18 | g.31598453A= | CA2293889257 | TTR | c.337-115A= (n.337-115A=) c.241-115A= (n.241-115A=) c.451-115A= (n.451-115A=) | |
| 18 | g.31598453A>G | CA629155232 | TTR | c.337-115A>G (n.337-115A>G) c.241-115A>G (n.241-115A>G) c.451-115A>G (n.451-115A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598455A>G | CA2641410469 | TTR | c.337-113A>G (n.337-113A>G) c.241-113A>G (n.241-113A>G) c.451-113A>G (n.451-113A>G) | gnomAD v4 |
| 18 | g.31598458dup | CA2641410467 | TTR | c.337-110dup (n.337-110dup) c.241-110dup (n.241-110dup) c.451-110dup (n.451-110dup) | gnomAD v4 |
| 18 | g.31598458del | CA2641410468 | TTR | c.337-110del (n.337-110del) c.241-110del (n.241-110del) c.451-110del (n.451-110del) | gnomAD v4 |
| 18 | g.31598456A= | CA2293889258 | TTR | c.337-112A= (n.337-112A=) c.241-112A= (n.241-112A=) c.451-112A= (n.451-112A=) | |
| 18 | g.31598456A>C | CA2293889259 | TTR | c.337-112A>C (n.337-112A>C) c.241-112A>C (n.241-112A>C) c.451-112A>C (n.451-112A>C) | dbSNP |
| 18 | g.31598457A= | CA2293889260 | TTR | c.337-111A= (n.337-111A=) c.241-111A= (n.241-111A=) c.451-111A= (n.451-111A=) | |
| 18 | g.31598457A>C | CA297741631 | TTR | c.337-111A>C (n.337-111A>C) c.241-111A>C (n.241-111A>C) c.451-111A>C (n.451-111A>C) | dbSNP gnomAD v4 |
| 18 | g.31598457A>T | CA778418140 | TTR | c.337-111A>T (n.337-111A>T) c.241-111A>T (n.241-111A>T) c.451-111A>T (n.451-111A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598459G>C | CA297741639 | TTR | c.337-109G>C (n.337-109G>C) c.241-109G>C (n.241-109G>C) c.451-109G>C (n.451-109G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598459G= | CA2293889261 | TTR | c.337-109G= (n.337-109G=) c.241-109G= (n.241-109G=) c.451-109G= (n.451-109G=) | |
| 18 | g.31598459G>T | CA2641410470 | TTR | c.337-109G>T (n.337-109G>T) c.241-109G>T (n.241-109G>T) c.451-109G>T (n.451-109G>T) | gnomAD v4 |
| 18 | g.31598460A= | CA2293889262 | TTR | c.337-108A= (n.337-108A=) c.241-108A= (n.241-108A=) c.451-108A= (n.451-108A=) | |
| 18 | g.31598460A>G | CA2812000702 | TTR | c.337-108A>G (n.337-108A>G) c.241-108A>G (n.241-108A>G) c.451-108A>G (n.451-108A>G) | |
| 18 | g.31598460A>T | CA629155235 | TTR | c.337-108A>T (n.337-108A>T) c.241-108A>T (n.241-108A>T) c.451-108A>T (n.451-108A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598462T>C | CA8928469 | TTR | c.337-106T>C (n.337-106T>C) c.241-106T>C (n.241-106T>C) c.451-106T>C (n.451-106T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598462T= | CA2293889263 | TTR | c.337-106T= (n.337-106T=) c.241-106T= (n.241-106T=) c.451-106T= (n.451-106T=) | |
| 18 | g.31598466del | CA2641410471 | TTR | c.337-102del (n.337-102del) c.241-102del (n.241-102del) c.451-102del (n.451-102del) | gnomAD v4 |
| 18 | g.31598464A= | CA2293889264 | TTR | c.337-104A= (n.337-104A=) c.241-104A= (n.241-104A=) c.451-104A= (n.451-104A=) | |
| 18 | g.31598464A>C | CA629155237 | TTR | c.337-104A>C (n.337-104A>C) c.241-104A>C (n.241-104A>C) c.451-104A>C (n.451-104A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598464_31598468delinsAAATT | CA2293889265 | TTR | c.337-104_337-100delinsAAATT (n.337-104_337-100delinsAAATT) c.241-104_241-100delinsAAATT (n.241-104_241-100delinsAAATT) c.451-104_451-100delinsAAATT (n.451-104_451-100delinsAAATT) | |
| 18 | g.31598465A>C | CA2641410472 | TTR | c.337-103A>C (n.337-103A>C) c.241-103A>C (n.241-103A>C) c.451-103A>C (n.451-103A>C) | gnomAD v4 |
| 18 | g.31598471_31598474del | CA629155239 | TTR | c.337-97_337-94del (n.337-97_337-94del) c.241-97_241-94del (n.241-97_241-94del) c.451-97_451-94del (n.451-97_451-94del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |