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 |
|---|---|---|---|---|---|
| 20 | g.46725379_46725868delinsC | CA2697547414 | SLC2A10 | c.343_832delinsC (p.Ser115_Ala278delinsPro) c.406_895delinsC (p.Ser136_Ala299delinsPro) c.352_841delinsC (p.Ser118_Ala281delinsPro) n.542_1031delinsC n.529_1018delinsC | ClinVar |
| 20 | g.46725434G>A | CA409266932 | SLC2A10 | c.398G>A (p.Gly133Glu) n.550G>A c.461G>A (p.Gly154Glu) c.407G>A (p.Gly136Glu) n.597G>A n.584G>A | |
| 20 | g.46725434G>C | CA409266933 | SLC2A10 | c.398G>C (p.Gly133Ala) n.550G>C c.461G>C (p.Gly154Ala) c.407G>C (p.Gly136Ala) n.597G>C n.584G>C | |
| 20 | g.46725434G>T | CA409266934 | SLC2A10 | c.398G>T (p.Gly133Val) n.550G>T c.461G>T (p.Gly154Val) c.407G>T (p.Gly136Val) n.597G>T n.584G>T | |
| 20 | g.46725435A>C | CA510847607 | SLC2A10 | c.399A>C (p.Gly133=) n.551A>C c.462A>C (p.Gly154=) c.408A>C (p.Gly136=) n.598A>C n.585A>C | |
| 20 | g.46725435A>G | CA510847608 | SLC2A10 | c.399A>G (p.Gly133=) n.551A>G c.462A>G (p.Gly154=) c.408A>G (p.Gly136=) n.598A>G n.585A>G | |
| 20 | g.46725435A>T | CA510847609 | SLC2A10 | c.399A>T (p.Gly133=) n.551A>T c.462A>T (p.Gly154=) c.408A>T (p.Gly136=) n.598A>T n.585A>T | |
| 20 | g.46725436G>A | CA409266936 | SLC2A10 | c.400G>A (p.Val134Met) n.552G>A c.463G>A (p.Val155Met) c.409G>A (p.Val137Met) n.599G>A n.586G>A | |
| 20 | g.46725436G>C | CA409266937 | SLC2A10 | c.400G>C (p.Val134Leu) n.552G>C c.463G>C (p.Val155Leu) c.409G>C (p.Val137Leu) n.599G>C n.586G>C | |
| 20 | g.46725436G>T | CA409266935 | SLC2A10 | c.400G>T (p.Val134Leu) n.552G>T c.463G>T (p.Val155Leu) c.409G>T (p.Val137Leu) n.599G>T n.586G>T | |
| 20 | g.46725437T>A | CA409266938 | SLC2A10 | c.401T>A (p.Val134Glu) n.553T>A c.464T>A (p.Val155Glu) c.410T>A (p.Val137Glu) n.600T>A n.587T>A | |
| 20 | g.46725437T>C | CA409266939 | SLC2A10 | c.401T>C (p.Val134Ala) n.553T>C c.464T>C (p.Val155Ala) c.410T>C (p.Val137Ala) n.600T>C n.587T>C | |
| 20 | g.46725437T>G | CA409266940 | SLC2A10 | c.401T>G (p.Val134Gly) n.553T>G c.464T>G (p.Val155Gly) c.410T>G (p.Val137Gly) n.600T>G n.587T>G | gnomAD v4 |
| 20 | g.46725438G>A | CA510847610 | SLC2A10 | c.402G>A (p.Val134=) n.554G>A c.465G>A (p.Val155=) c.411G>A (p.Val137=) n.601G>A n.588G>A | COSMIC |
| 20 | g.46725438G>C | CA510847611 | SLC2A10 | c.402G>C (p.Val134=) n.554G>C c.465G>C (p.Val155=) c.411G>C (p.Val137=) n.601G>C n.588G>C | |
| 20 | g.46725438G>T | CA510847612 | SLC2A10 | c.402G>T (p.Val134=) n.554G>T c.465G>T (p.Val155=) c.411G>T (p.Val137=) n.601G>T n.588G>T | |
| 20 | g.46725439C>A | CA409266941 | SLC2A10 | c.403C>A (p.Leu135Met) n.555C>A c.466C>A (p.Leu156Met) c.412C>A (p.Leu138Met) n.602C>A n.589C>A | |
| 20 | g.46725439C= | CA2366796204 | SLC2A10 | c.403C= (p.Leu135=) n.555C= c.466C= (p.Leu156=) c.412C= (p.Leu138=) n.602C= n.589C= | |
| 20 | g.46725439C>G | CA409266942 | SLC2A10 | c.403C>G (p.Leu135Val) n.555C>G c.466C>G (p.Leu156Val) c.412C>G (p.Leu138Val) n.602C>G n.589C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725439C>T | CA510847613 | SLC2A10 | c.403C>T (p.Leu135=) n.555C>T c.466C>T (p.Leu156=) c.412C>T (p.Leu138=) n.602C>T n.589C>T | dbSNP |
| 20 | g.46725440T>A | CA409266945 | SLC2A10 | c.404T>A (p.Leu135Gln) n.556T>A c.467T>A (p.Leu156Gln) c.413T>A (p.Leu138Gln) n.603T>A n.590T>A | |
| 20 | g.46725440T>C | CA409266944 | SLC2A10 | c.404T>C (p.Leu135Pro) n.556T>C c.467T>C (p.Leu156Pro) c.413T>C (p.Leu138Pro) n.603T>C n.590T>C | |
| 20 | g.46725440T>G | CA409266943 | SLC2A10 | c.404T>G (p.Leu135Arg) n.556T>G c.467T>G (p.Leu156Arg) c.413T>G (p.Leu138Arg) n.603T>G n.590T>G | |
| 20 | g.46725441G>A | CA510847614 | SLC2A10 | c.405G>A (p.Leu135=) n.557G>A c.468G>A (p.Leu156=) c.414G>A (p.Leu138=) n.604G>A n.591G>A | gnomAD v4 |
| 20 | g.46725441G>C | CA510847616 | SLC2A10 | c.405G>C (p.Leu135=) n.557G>C c.468G>C (p.Leu156=) c.414G>C (p.Leu138=) n.604G>C n.591G>C | |
| 20 | g.46725441G>T | CA510847615 | SLC2A10 | c.405G>T (p.Leu135=) n.557G>T c.468G>T (p.Leu156=) c.414G>T (p.Leu138=) n.604G>T n.591G>T | dbSNP |
| 20 | g.46725442G>A | CA409266946 | SLC2A10 | c.406G>A (p.Val136Met) n.558G>A c.469G>A (p.Val157Met) c.415G>A (p.Val139Met) n.605G>A n.592G>A | |
| 20 | g.46725442G>C | CA409266947 | SLC2A10 | c.406G>C (p.Val136Leu) n.558G>C c.469G>C (p.Val157Leu) c.415G>C (p.Val139Leu) n.605G>C n.592G>C | dbSNP |
| 20 | g.46725442G= | CA2366796205 | SLC2A10 | c.406G= (p.Val136=) n.558G= c.469G= (p.Val157=) c.415G= (p.Val139=) n.605G= n.592G= | |
| 20 | g.46725442G>T | CA409266948 | SLC2A10 | c.406G>T (p.Val136Leu) n.558G>T c.469G>T (p.Val157Leu) c.415G>T (p.Val139Leu) n.605G>T n.592G>T | gnomAD v4 |
| 20 | g.46725443T>A | CA409266949 | SLC2A10 | c.407T>A (p.Val136Glu) n.559T>A c.470T>A (p.Val157Glu) c.416T>A (p.Val139Glu) n.606T>A n.593T>A | |
| 20 | g.46725443T>C | CA409266950 | SLC2A10 | c.407T>C (p.Val136Ala) n.559T>C c.470T>C (p.Val157Ala) c.416T>C (p.Val139Ala) n.606T>C n.593T>C | |
| 20 | g.46725443T>G | CA409266951 | SLC2A10 | c.407T>G (p.Val136Gly) n.559T>G c.470T>G (p.Val157Gly) c.416T>G (p.Val139Gly) n.606T>G n.593T>G | |
| 20 | g.46725444G>A | CA510847617 | SLC2A10 | c.408G>A (p.Val136=) n.560G>A c.471G>A (p.Val157=) c.417G>A (p.Val139=) n.607G>A n.594G>A | |
| 20 | g.46725444G>C | CA510847618 | SLC2A10 | c.408G>C (p.Val136=) n.560G>C c.471G>C (p.Val157=) c.417G>C (p.Val139=) n.607G>C n.594G>C | |
| 20 | g.46725444G= | CA2366796206 | SLC2A10 | c.408G= (p.Val136=) n.560G= c.471G= (p.Val157=) c.417G= (p.Val139=) n.607G= n.594G= | |
| 20 | g.46725444G>T | CA510847619 | SLC2A10 | c.408G>T (p.Val136=) n.560G>T c.471G>T (p.Val157=) c.417G>T (p.Val139=) n.607G>T n.594G>T | dbSNP gnomAD v4 |
| 20 | g.46725445T>A | CA409266952 | SLC2A10 | c.409T>A (p.Ser137Thr) n.561T>A c.472T>A (p.Ser158Thr) c.418T>A (p.Ser140Thr) n.608T>A n.595T>A | |
| 20 | g.46725445T>C | CA409266954 | SLC2A10 | c.409T>C (p.Ser137Pro) n.561T>C c.472T>C (p.Ser158Pro) c.418T>C (p.Ser140Pro) n.608T>C n.595T>C | |
| 20 | g.46725445T>G | CA409266953 | SLC2A10 | c.409T>G (p.Ser137Ala) n.561T>G c.472T>G (p.Ser158Ala) c.418T>G (p.Ser140Ala) n.608T>G n.595T>G | gnomAD v4 |
| 20 | g.46725446C>A | CA409266955 | SLC2A10 | c.410C>A (p.Ser137Tyr) n.562C>A c.473C>A (p.Ser158Tyr) c.419C>A (p.Ser140Tyr) n.609C>A n.596C>A | |
| 20 | g.46725446C= | CA2366796207 | SLC2A10 | c.410C= (p.Ser137=) n.562C= c.473C= (p.Ser158=) c.419C= (p.Ser140=) n.609C= n.596C= | |
| 20 | g.46725446C>G | CA409266956 | SLC2A10 | c.410C>G (p.Ser137Cys) n.562C>G c.473C>G (p.Ser158Cys) c.419C>G (p.Ser140Cys) n.609C>G n.596C>G | |
| 20 | g.46725446C>T | CA9891970 | SLC2A10 | c.410C>T (p.Ser137Phe) n.562C>T c.473C>T (p.Ser158Phe) c.419C>T (p.Ser140Phe) n.609C>T n.596C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725447C>A | CA510847620 | SLC2A10 | c.411C>A (p.Ser137=) n.563C>A c.474C>A (p.Ser158=) c.420C>A (p.Ser140=) n.610C>A n.597C>A | |
| 20 | g.46725447C= | CA2366796208 | SLC2A10 | c.411C= (p.Ser137=) n.563C= c.474C= (p.Ser158=) c.420C= (p.Ser140=) n.610C= n.597C= | |
| 20 | g.46725447C>G | CA510847621 | SLC2A10 | c.411C>G (p.Ser137=) n.563C>G c.474C>G (p.Ser158=) c.420C>G (p.Ser140=) n.610C>G n.597C>G | |
| 20 | g.46725447C>T | CA510847622 | SLC2A10 | c.411C>T (p.Ser137=) n.563C>T c.474C>T (p.Ser158=) c.420C>T (p.Ser140=) n.610C>T n.597C>T | ClinVar dbSNP |
| 20 | g.46725448C>A | CA409266957 | SLC2A10 | c.412C>A (p.Leu138Ile) n.564C>A c.475C>A (p.Leu159Ile) c.421C>A (p.Leu141Ile) n.611C>A n.598C>A | |
| 20 | g.46725448C= | CA2366796209 | SLC2A10 | c.412C= (p.Leu138=) n.564C= c.475C= (p.Leu159=) c.421C= (p.Leu141=) n.611C= n.598C= |