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.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 |
| 18 | g.31598466A= | CA2293889266 | TTR | c.337-102A= (n.337-102A=) c.241-102A= (n.241-102A=) c.451-102A= (n.451-102A=) | |
| 18 | g.31598466A>G | CA297741643 | TTR | c.337-102A>G (n.337-102A>G) c.241-102A>G (n.241-102A>G) c.451-102A>G (n.451-102A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598467T>G | CA8928470 | TTR | c.337-101T>G (n.337-101T>G) c.241-101T>G (n.241-101T>G) c.451-101T>G (n.451-101T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598467T= | CA2293889267 | TTR | c.337-101T= (n.337-101T=) c.241-101T= (n.241-101T=) c.451-101T= (n.451-101T=) | |
| 18 | g.31598468T>A | CA2641410473 | TTR | c.337-100T>A (n.337-100T>A) c.241-100T>A (n.241-100T>A) c.451-100T>A (n.451-100T>A) | gnomAD v4 |
| 18 | g.31598468T>C | CA8928471 | TTR | c.337-100T>C (n.337-100T>C) c.241-100T>C (n.241-100T>C) c.451-100T>C (n.451-100T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598468T= | CA2293889268 | TTR | c.337-100T= (n.337-100T=) c.241-100T= (n.241-100T=) c.451-100T= (n.451-100T=) | |
| 18 | g.31598469A= | CA2293889269 | TTR | c.337-99A= (n.337-99A=) c.241-99A= (n.241-99A=) c.451-99A= (n.451-99A=) | |
| 18 | g.31598469A>C | CA8928472 | TTR | c.337-99A>C (n.337-99A>C) c.241-99A>C (n.241-99A>C) c.451-99A>C (n.451-99A>C) | dbSNP ExAC gnomAD v4 |
| 18 | g.31598469A>T | CA2576480656 | TTR | c.337-99A>T (n.337-99A>T) c.241-99A>T (n.241-99A>T) c.451-99A>T (n.451-99A>T) | gnomAD v4 |
| 18 | g.31598471T>A | CA778418163 | TTR | c.337-97T>A (n.337-97T>A) c.241-97T>A (n.241-97T>A) c.451-97T>A (n.451-97T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598471T>C | CA2641410474 | TTR | c.337-97T>C (n.337-97T>C) c.241-97T>C (n.241-97T>C) c.451-97T>C (n.451-97T>C) | gnomAD v4 |
| 18 | g.31598471T= | CA2293889270 | TTR | c.337-97T= (n.337-97T=) c.241-97T= (n.241-97T=) c.451-97T= (n.451-97T=) | |
| 18 | g.31598472T>C | CA2293889272 | TTR | c.337-96T>C (n.337-96T>C) c.241-96T>C (n.241-96T>C) c.451-96T>C (n.451-96T>C) | dbSNP gnomAD v4 |
| 18 | g.31598472T= | CA2293889271 | TTR | c.337-96T= (n.337-96T=) c.241-96T= (n.241-96T=) c.451-96T= (n.451-96T=) | |
| 18 | g.31598475G>A | CA2641410475 | TTR | c.337-93G>A (n.337-93G>A) c.241-93G>A (n.241-93G>A) c.451-93G>A (n.451-93G>A) | gnomAD v4 |
| 18 | g.31598475G= | CA2293889273 | TTR | c.337-93G= (n.337-93G=) c.241-93G= (n.241-93G=) c.451-93G= (n.451-93G=) | |
| 18 | g.31598475G>T | CA629155244 | TTR | c.337-93G>T (n.337-93G>T) c.241-93G>T (n.241-93G>T) c.451-93G>T (n.451-93G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598476T>C | CA8928473 | TTR | c.337-92T>C (n.337-92T>C) c.241-92T>C (n.241-92T>C) c.451-92T>C (n.451-92T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598476T= | CA2293889274 | TTR | c.337-92T= (n.337-92T=) c.241-92T= (n.241-92T=) c.451-92T= (n.451-92T=) | |
| 18 | g.31598477T>A | CA2739580312 | TTR | c.337-91T>A (n.337-91T>A) c.241-91T>A (n.241-91T>A) c.451-91T>A (n.451-91T>A) | |
| 18 | g.31598477T>C | CA8928474 | TTR | c.337-91T>C (n.337-91T>C) c.241-91T>C (n.241-91T>C) c.451-91T>C (n.451-91T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598477T>G | CA297741685 | TTR | c.337-91T>G (n.337-91T>G) c.241-91T>G (n.241-91T>G) c.451-91T>G (n.451-91T>G) | dbSNP |
| 18 | g.31598477T= | CA2293889275 | TTR | c.337-91T= (n.337-91T=) c.241-91T= (n.241-91T=) c.451-91T= (n.451-91T=) | |
| 18 | g.31598478G>A | CA8928475 | TTR | c.337-90G>A (n.337-90G>A) c.241-90G>A (n.241-90G>A) c.451-90G>A (n.451-90G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598478G>C | CA778418170 | TTR | c.337-90G>C (n.337-90G>C) c.241-90G>C (n.241-90G>C) c.451-90G>C (n.451-90G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598478G= | CA2293889276 | TTR | c.337-90G= (n.337-90G=) c.241-90G= (n.241-90G=) c.451-90G= (n.451-90G=) | |
| 18 | g.31598478G>T | CA2641410476 | TTR | c.337-90G>T (n.337-90G>T) c.241-90G>T (n.241-90G>T) c.451-90G>T (n.451-90G>T) | gnomAD v4 |
| 18 | g.31598479G>C | CA2739580313 | TTR | c.337-89G>C (n.337-89G>C) c.241-89G>C (n.241-89G>C) c.451-89G>C (n.451-89G>C) | |
| 18 | g.31598479G>T | CA2576480657 | TTR | c.337-89G>T (n.337-89G>T) c.241-89G>T (n.241-89G>T) c.451-89G>T (n.451-89G>T) | gnomAD v4 |
| 18 | g.31598480C>A | CA2576480658 | TTR | c.337-88C>A (n.337-88C>A) c.241-88C>A (n.241-88C>A) c.451-88C>A (n.451-88C>A) | gnomAD v4 |
| 18 | g.31598480C>G | CA2739580314 | TTR | c.337-88C>G (n.337-88C>G) c.241-88C>G (n.241-88C>G) c.451-88C>G (n.451-88C>G) | |
| 18 | g.31598480C>T | CA2739580315 | TTR | c.337-88C>T (n.337-88C>T) c.241-88C>T (n.241-88C>T) c.451-88C>T (n.451-88C>T) | |
| 18 | g.31598480_31598481delinsCA | CA2293889277 | TTR | c.337-88_337-87delinsCA (n.337-88_337-87delinsCA) c.241-88_241-87delinsCA (n.241-88_241-87delinsCA) c.451-88_451-87delinsCA (n.451-88_451-87delinsCA) | |
| 18 | g.31598481del | CA778418172 | TTR | c.337-87del (n.337-87del) c.241-87del (n.241-87del) c.451-87del (n.451-87del) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598481A= | CA2293889278 | TTR | c.337-87A= (n.337-87A=) c.241-87A= (n.241-87A=) c.451-87A= (n.451-87A=) | |
| 18 | g.31598481A>C | CA2739580316 | TTR | c.337-87A>C (n.337-87A>C) c.241-87A>C (n.241-87A>C) c.451-87A>C (n.451-87A>C) |