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 |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116832662G>C | CA601825972 | APOC3 | c.180-102G>C (n.180-102G>C) c.234-102G>C (n.234-102G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832662G= | CA2002760208 | APOC3 | c.180-102G= (n.180-102G=) c.234-102G= (n.234-102G=) | |
| 11 | g.116832664C>A | CA2574986574 | APOC3 | c.180-100C>A (n.180-100C>A) c.234-100C>A (n.234-100C>A) | gnomAD v4 |
| 11 | g.116832665C= | CA2002760209 | APOC3 | c.180-99C= (n.180-99C=) c.234-99C= (n.234-99C=) | |
| 11 | g.116832665C>T | CA2002760210 | APOC3 | c.180-99C>T (n.180-99C>T) c.234-99C>T (n.234-99C>T) | dbSNP |
| 11 | g.116832666T>C | CA672201944 | APOC3 | c.180-98T>C (n.180-98T>C) c.234-98T>C (n.234-98T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832666T>G | CA2002760212 | APOC3 | c.180-98T>G (n.180-98T>G) c.234-98T>G (n.234-98T>G) | dbSNP gnomAD v4 |
| 11 | g.116832666T= | CA2002760211 | APOC3 | c.180-98T= (n.180-98T=) c.234-98T= (n.234-98T=) | |
| 11 | g.116832667G>A | CA2616111272 | APOC3 | c.180-97G>A (n.180-97G>A) c.234-97G>A (n.234-97G>A) | gnomAD v4 |
| 11 | g.116832667G>T | CA2616111273 | APOC3 | c.180-97G>T (n.180-97G>T) c.234-97G>T (n.234-97G>T) | gnomAD v4 |
| 11 | g.116832668A>T | CA2574986575 | APOC3 | c.180-96A>T (n.180-96A>T) c.234-96A>T (n.234-96A>T) | gnomAD v4 |
| 11 | g.116832669C>A | CA2616111274 | APOC3 | c.180-95C>A (n.180-95C>A) c.234-95C>A (n.234-95C>A) | gnomAD v4 |
| 11 | g.116832669C= | CA2002760213 | APOC3 | c.180-95C= (n.180-95C=) c.234-95C= (n.234-95C=) | |
| 11 | g.116832669C>T | CA229320692 | APOC3 | c.180-95C>T (n.180-95C>T) c.234-95C>T (n.234-95C>T) | dbSNP |
| 11 | g.116832670T>A | CA229320701 | APOC3 | c.180-94T>A (n.180-94T>A) c.234-94T>A (n.234-94T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832670T>C | CA2616111275 | APOC3 | c.180-94T>C (n.180-94T>C) c.234-94T>C (n.234-94T>C) | gnomAD v4 |
| 11 | g.116832670T= | CA2002760214 | APOC3 | c.180-94T= (n.180-94T=) c.234-94T= (n.234-94T=) | |
| 11 | g.116832671G>A | CA2616111276 | APOC3 | c.180-93G>A (n.180-93G>A) c.234-93G>A (n.234-93G>A) | gnomAD v4 |
| 11 | g.116832672G>A | CA672201952 | APOC3 | c.180-92G>A (n.180-92G>A) c.234-92G>A (n.234-92G>A) | dbSNP |
| 11 | g.116832672G= | CA2002760215 | APOC3 | c.180-92G= (n.180-92G=) c.234-92G= (n.234-92G=) | |
| 11 | g.116832674G>T | CA2616111277 | APOC3 | c.180-90G>T (n.180-90G>T) c.234-90G>T (n.234-90G>T) | gnomAD v4 |
| 11 | g.116832676C>A | CA2616111278 | APOC3 | c.180-88C>A (n.180-88C>A) c.234-88C>A (n.234-88C>A) | gnomAD v4 |
| 11 | g.116832676C= | CA2002760216 | APOC3 | c.180-88C= (n.180-88C=) c.234-88C= (n.234-88C=) | |
| 11 | g.116832676C>T | CA2002760217 | APOC3 | c.180-88C>T (n.180-88C>T) c.234-88C>T (n.234-88C>T) | dbSNP gnomAD v4 |
| 11 | g.116832677G>A | CA229320713 | APOC3 | c.180-87G>A (n.180-87G>A) c.234-87G>A (n.234-87G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832677G>C | CA2002760219 | APOC3 | c.180-87G>C (n.180-87G>C) c.234-87G>C (n.234-87G>C) | dbSNP gnomAD v4 |
| 11 | g.116832677G= | CA2002760218 | APOC3 | c.180-87G= (n.180-87G=) c.234-87G= (n.234-87G=) | |
| 11 | g.116832679C>A | CA2616111279 | APOC3 | c.180-85C>A (n.180-85C>A) c.234-85C>A (n.234-85C>A) | gnomAD v4 |
| 11 | g.116832679C>G | CA2616111280 | APOC3 | c.180-85C>G (n.180-85C>G) c.234-85C>G (n.234-85C>G) | gnomAD v4 |
| 11 | g.116832679C>T | CA2616111281 | APOC3 | c.180-85C>T (n.180-85C>T) c.234-85C>T (n.234-85C>T) | gnomAD v4 |
| 11 | g.116832682G>A | CA229320721 | APOC3 | c.180-82G>A (n.180-82G>A) c.234-82G>A (n.234-82G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832682G>C | CA229320737 | APOC3 | c.180-82G>C (n.180-82G>C) c.234-82G>C (n.234-82G>C) | dbSNP |
| 11 | g.116832682G= | CA2002760220 | APOC3 | c.180-82G= (n.180-82G=) c.234-82G= (n.234-82G=) | |
| 11 | g.116832683T>C | CA2574986576 | APOC3 | c.180-81T>C (n.180-81T>C) c.234-81T>C (n.234-81T>C) | |
| 11 | g.116832684G>A | CA2793765121 | APOC3 | c.180-80G>A (n.180-80G>A) c.234-80G>A (n.234-80G>A) | |
| 11 | g.116832687del | CA2616111282 | APOC3 | c.180-77del (n.180-77del) c.234-77del (n.234-77del) | gnomAD v4 |
| 11 | g.116832685G>A | CA942608765 | APOC3 | c.180-79G>A (n.180-79G>A) c.234-79G>A (n.234-79G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832685G= | CA2002760221 | APOC3 | c.180-79G= (n.180-79G=) c.234-79G= (n.234-79G=) | |
| 11 | g.116832685G>T | CA2616111283 | APOC3 | c.180-79G>T (n.180-79G>T) c.234-79G>T (n.234-79G>T) | gnomAD v4 |
| 11 | g.116832686G>A | CA2574986577 | APOC3 | c.180-78G>A (n.180-78G>A) c.234-78G>A (n.234-78G>A) | gnomAD v4 |
| 11 | g.116832686G>C | CA601825974 | APOC3 | c.180-78G>C (n.180-78G>C) c.234-78G>C (n.234-78G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832686G= | CA2002760222 | APOC3 | c.180-78G= (n.180-78G=) c.234-78G= (n.234-78G=) | |
| 11 | g.116832686G>T | CA2574986578 | APOC3 | c.180-78G>T (n.180-78G>T) c.234-78G>T (n.234-78G>T) | gnomAD v4 |
| 11 | g.116832687G>A | CA2616111284 | APOC3 | c.180-77G>A (n.180-77G>A) c.234-77G>A (n.234-77G>A) | gnomAD v4 |
| 11 | g.116832687G>C | CA2616111285 | APOC3 | c.180-77G>C (n.180-77G>C) c.234-77G>C (n.234-77G>C) | gnomAD v4 |
| 11 | g.116832687G= | CA2002760223 | APOC3 | c.180-77G= (n.180-77G=) c.234-77G= (n.234-77G=) | |
| 11 | g.116832687G>T | CA229320746 | APOC3 | c.180-77G>T (n.180-77G>T) c.234-77G>T (n.234-77G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832688A= | CA2002760224 | APOC3 | c.180-76A= (n.180-76A=) c.234-76A= (n.234-76A=) | |
| 11 | g.116832688A>G | CA229320748 | APOC3 | c.180-76A>G (n.180-76A>G) c.234-76A>G (n.234-76A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |