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 |
|---|---|---|---|---|---|
| 4 | g.184631868dup | CA1071874704 | CASP3 | c.384dup (p.Gly129TrpfsTer7) n.452dup n.3349dup c.*133dup (n.*133dup) c.411dup (p.Gly138TrpfsTer7) c.306dup (p.Gly103TrpfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.184631868del | CA2672811819 | CASP3 | c.384del (p.Phe128LeufsTer9) n.452del n.3349del c.*133del (n.*133del) c.411del (p.Phe137LeufsTer9) c.306del (p.Phe102LeufsTer9) | gnomAD v4 |
| 4 | g.184631866A>C | CA359106084 | CASP3 | c.382T>G (p.Phe128Val) n.450T>G n.3347T>G c.*131T>G (n.*131T>G) c.409T>G (p.Phe137Val) c.304T>G (p.Phe102Val) | |
| 4 | g.184631866A>G | CA359106086 | CASP3 | c.382T>C (p.Phe128Leu) n.450T>C n.3347T>C c.*131T>C (n.*131T>C) c.409T>C (p.Phe137Leu) c.304T>C (p.Phe102Leu) | |
| 4 | g.184631866A>T | CA359106085 | CASP3 | c.382T>A (p.Phe128Ile) n.450T>A n.3347T>A c.*131T>A (n.*131T>A) c.409T>A (p.Phe137Ile) c.304T>A (p.Phe102Ile) | |
| 4 | g.184631867A>C | CA359106087 | CASP3 | c.381T>G (p.Ile127Met) n.449T>G n.3346T>G c.*130T>G (n.*130T>G) c.408T>G (p.Ile136Met) c.303T>G (p.Ile101Met) | |
| 4 | g.184631867A>G | CA442737694 | CASP3 | c.381T>C (p.Ile127=) n.449T>C n.3346T>C c.*130T>C (n.*130T>C) c.408T>C (p.Ile136=) c.303T>C (p.Ile101=) | |
| 4 | g.184631867A>T | CA442737695 | CASP3 | c.381T>A (p.Ile127=) n.449T>A n.3346T>A c.*130T>A (n.*130T>A) c.408T>A (p.Ile136=) c.303T>A (p.Ile101=) | gnomAD v4 |
| 4 | g.184631868A>C | CA359106088 | CASP3 | c.380T>G (p.Ile127Ser) n.448T>G n.3345T>G c.*129T>G (n.*129T>G) c.407T>G (p.Ile136Ser) c.302T>G (p.Ile101Ser) | |
| 4 | g.184631868A>G | CA359106089 | CASP3 | c.380T>C (p.Ile127Thr) n.448T>C n.3345T>C c.*129T>C (n.*129T>C) c.407T>C (p.Ile136Thr) c.302T>C (p.Ile101Thr) | |
| 4 | g.184631868A>T | CA359106090 | CASP3 | c.380T>A (p.Ile127Asn) n.448T>A n.3345T>A c.*129T>A (n.*129T>A) c.407T>A (p.Ile136Asn) c.302T>A (p.Ile101Asn) | |
| 4 | g.184631869T>A | CA359106091 | CASP3 | c.379A>T (p.Ile127Phe) n.447A>T n.3344A>T c.*128A>T (n.*128A>T) c.406A>T (p.Ile136Phe) c.301A>T (p.Ile101Phe) | |
| 4 | g.184631869T>C | CA359106092 | CASP3 | c.379A>G (p.Ile127Val) n.447A>G n.3344A>G c.*128A>G (n.*128A>G) c.406A>G (p.Ile136Val) c.301A>G (p.Ile101Val) | dbSNP gnomAD v4 |
| 4 | g.184631869T>G | CA3154033 | CASP3 | c.379A>C (p.Ile127Leu) n.447A>C n.3344A>C c.*128A>C (n.*128A>C) c.406A>C (p.Ile136Leu) c.301A>C (p.Ile101Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.184631869T= | CA1519179825 | CASP3 | c.379A= (p.Ile127=) n.447A= n.3344A= c.*128A= (n.*128A=) c.406A= (p.Ile136=) c.301A= (p.Ile101=) | |
| 4 | g.184631870T>A | CA442737702 | CASP3 | c.378A>T (p.Ile126=) n.446A>T n.3343A>T c.*127A>T (n.*127A>T) c.405A>T (p.Ile135=) c.300A>T (p.Ile100=) | |
| 4 | g.184631870T>C | CA359106093 | CASP3 | c.378A>G (p.Ile126Met) n.446A>G n.3343A>G c.*127A>G (n.*127A>G) c.405A>G (p.Ile135Met) c.300A>G (p.Ile100Met) | |
| 4 | g.184631870T>G | CA3154034 | CASP3 | c.378A>C (p.Ile126=) n.446A>C n.3343A>C c.*127A>C (n.*127A>C) c.405A>C (p.Ile135=) c.300A>C (p.Ile100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.184631870T= | CA1519179830 | CASP3 | c.378A= (p.Ile126=) n.446A= n.3343A= c.*127A= (n.*127A=) c.405A= (p.Ile135=) c.300A= (p.Ile100=) | |
| 4 | g.184631871A>C | CA359106095 | CASP3 | c.377T>G (p.Ile126Arg) n.445T>G n.3342T>G c.*126T>G (n.*126T>G) c.404T>G (p.Ile135Arg) c.299T>G (p.Ile100Arg) | |
| 4 | g.184631871A>G | CA359106096 | CASP3 | c.377T>C (p.Ile126Thr) n.445T>C n.3342T>C c.*126T>C (n.*126T>C) c.404T>C (p.Ile135Thr) c.299T>C (p.Ile100Thr) | ClinVar |
| 4 | g.184631871A>T | CA359106094 | CASP3 | c.377T>A (p.Ile126Lys) n.445T>A n.3342T>A c.*126T>A (n.*126T>A) c.404T>A (p.Ile135Lys) c.299T>A (p.Ile100Lys) | |
| 4 | g.184631872T>A | CA359106097 | CASP3 | c.376A>T (p.Ile126Leu) n.444A>T n.3341A>T c.*125A>T (n.*125A>T) c.403A>T (p.Ile135Leu) c.298A>T (p.Ile100Leu) | |
| 4 | g.184631872T>C | CA359106098 | CASP3 | c.376A>G (p.Ile126Val) n.444A>G n.3341A>G c.*125A>G (n.*125A>G) c.403A>G (p.Ile135Val) c.298A>G (p.Ile100Val) | dbSNP |
| 4 | g.184631872T>G | CA359106099 | CASP3 | c.376A>C (p.Ile126Leu) n.444A>C n.3341A>C c.*125A>C (n.*125A>C) c.403A>C (p.Ile135Leu) c.298A>C (p.Ile100Leu) | |
| 4 | g.184631872T= | CA1519179834 | CASP3 | c.376A= (p.Ile126=) n.444A= n.3341A= c.*125A= (n.*125A=) c.403A= (p.Ile135=) c.298A= (p.Ile100=) | |
| 4 | g.184631873T>A | CA442737711 | CASP3 | c.375A>T (p.Gly125=) n.443A>T n.3340A>T c.*124A>T (n.*124A>T) c.402A>T (p.Gly134=) c.297A>T (p.Gly99=) | |
| 4 | g.184631873T>C | CA442737710 | CASP3 | c.375A>G (p.Gly125=) n.443A>G n.3340A>G c.*124A>G (n.*124A>G) c.402A>G (p.Gly134=) c.297A>G (p.Gly99=) | |
| 4 | g.184631873T>G | CA442737708 | CASP3 | c.375A>C (p.Gly125=) n.443A>C n.3340A>C c.*124A>C (n.*124A>C) c.402A>C (p.Gly134=) c.297A>C (p.Gly99=) | |
| 4 | g.184631874C>A | CA359106100 | CASP3 | c.374G>T (p.Gly125Val) n.442G>T n.3339G>T c.*123G>T (n.*123G>T) c.401G>T (p.Gly134Val) c.296G>T (p.Gly99Val) | |
| 4 | g.184631874C>G | CA359106101 | CASP3 | c.374G>C (p.Gly125Ala) n.442G>C n.3339G>C c.*123G>C (n.*123G>C) c.401G>C (p.Gly134Ala) c.296G>C (p.Gly99Ala) | |
| 4 | g.184631874C>T | CA359106102 | CASP3 | c.374G>A (p.Gly125Glu) n.442G>A n.3339G>A c.*123G>A (n.*123G>A) c.401G>A (p.Gly134Glu) c.296G>A (p.Gly99Glu) | gnomAD v4 |
| 4 | g.184631875C>A | CA359106105 | CASP3 | c.373G>T (p.Gly125Ter) n.441G>T n.3338G>T c.*122G>T (n.*122G>T) c.400G>T (p.Gly134Ter) c.295G>T (p.Gly99Ter) | |
| 4 | g.184631875C>G | CA359106103 | CASP3 | c.373G>C (p.Gly125Arg) n.441G>C n.3338G>C c.*122G>C (n.*122G>C) c.400G>C (p.Gly134Arg) c.295G>C (p.Gly99Arg) | |
| 4 | g.184631875C>T | CA359106104 | CASP3 | c.373G>A (p.Gly125Arg) n.441G>A n.3338G>A c.*122G>A (n.*122G>A) c.400G>A (p.Gly134Arg) c.295G>A (p.Gly99Arg) | |
| 4 | g.184631876T>A | CA359106106 | CASP3 | c.372A>T (p.Glu124Asp) n.440A>T n.3337A>T c.*121A>T (n.*121A>T) c.399A>T (p.Glu133Asp) c.294A>T (p.Glu98Asp) | |
| 4 | g.184631876T>C | CA442737717 | CASP3 | c.372A>G (p.Glu124=) n.440A>G n.3337A>G c.*121A>G (n.*121A>G) c.399A>G (p.Glu133=) c.294A>G (p.Glu98=) | |
| 4 | g.184631876T>G | CA359106107 | CASP3 | c.372A>C (p.Glu124Asp) n.440A>C n.3337A>C c.*121A>C (n.*121A>C) c.399A>C (p.Glu133Asp) c.294A>C (p.Glu98Asp) | dbSNP |
| 4 | g.184631876T= | CA1519179839 | CASP3 | c.372A= (p.Glu124=) n.440A= n.3337A= c.*121A= (n.*121A=) c.399A= (p.Glu133=) c.294A= (p.Glu98=) | |
| 4 | g.184631877T>A | CA359106108 | CASP3 | c.371A>T (p.Glu124Val) n.439A>T n.3336A>T c.*120A>T (n.*120A>T) c.398A>T (p.Glu133Val) c.293A>T (p.Glu98Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.184631877T>C | CA359106109 | CASP3 | c.371A>G (p.Glu124Gly) n.439A>G n.3336A>G c.*120A>G (n.*120A>G) c.398A>G (p.Glu133Gly) c.293A>G (p.Glu98Gly) | |
| 4 | g.184631877T>G | CA359106110 | CASP3 | c.371A>C (p.Glu124Ala) n.439A>C n.3336A>C c.*120A>C (n.*120A>C) c.398A>C (p.Glu133Ala) c.293A>C (p.Glu98Ala) | |
| 4 | g.184631877T= | CA1519179845 | CASP3 | c.371A= (p.Glu124=) n.439A= n.3336A= c.*120A= (n.*120A=) c.398A= (p.Glu133=) c.293A= (p.Glu98=) | |
| 4 | g.184631878C>A | CA359106111 | CASP3 | c.370G>T (p.Glu124Ter) n.438G>T n.3335G>T c.*119G>T (n.*119G>T) c.397G>T (p.Glu133Ter) c.292G>T (p.Glu98Ter) | |
| 4 | g.184631878C>G | CA359106113 | CASP3 | c.370G>C (p.Glu124Gln) n.438G>C n.3335G>C c.*119G>C (n.*119G>C) c.397G>C (p.Glu133Gln) c.292G>C (p.Glu98Gln) | |
| 4 | g.184631878C>T | CA359106112 | CASP3 | c.370G>A (p.Glu124Lys) n.438G>A n.3335G>A c.*119G>A (n.*119G>A) c.397G>A (p.Glu133Lys) c.292G>A (p.Glu98Lys) | COSMIC |
| 4 | g.184631879T>A | CA359106114 | CASP3 | c.369A>T (p.Glu123Asp) n.437A>T n.3334A>T c.*118A>T (n.*118A>T) c.396A>T (p.Glu132Asp) c.291A>T (p.Glu97Asp) | |
| 4 | g.184631879T>C | CA3154035 | CASP3 | c.369A>G (p.Glu123=) n.437A>G n.3334A>G c.*118A>G (n.*118A>G) c.396A>G (p.Glu132=) c.291A>G (p.Glu97=) | dbSNP ExAC |
| 4 | g.184631879T>G | CA359106115 | CASP3 | c.369A>C (p.Glu123Asp) n.437A>C n.3334A>C c.*118A>C (n.*118A>C) c.396A>C (p.Glu132Asp) c.291A>C (p.Glu97Asp) | |
| 4 | g.184631879T= | CA1519179854 | CASP3 | c.369A= (p.Glu123=) n.437A= n.3334A= c.*118A= (n.*118A=) c.396A= (p.Glu132=) c.291A= (p.Glu97=) |