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.6291544_6291558delinsCCTGTAGAGACCGTG | CA1435768747 | WFS1 | c.631+177_631+191delinsCCTGTAGAGACCGTG (n.631+177_631+191delinsCCTGTAGAGACCGTG) c.608+190_608+204delinsCCTGTAGAGACCGTG c.*103_*117delinsCCTGTAGAGACCGTG (n.*103_*117delinsCCTGTAGAGACCGTG) c.382+177_382+191delinsCCTGTAGAGACCGTG (n.382+177_382+191delinsCCTGTAGAGACCGTG) c.430+177_430+191delinsCCTGTAGAGACCGTG (n.430+177_430+191delinsCCTGTAGAGACCGTG) c.228+177_228+191delinsCCTGTAGAGACCGTG n.816+177_816+191delinsCCTGTAGAGACCGTG c.640+177_640+191delinsCCTGTAGAGACCGTG (n.640+177_640+191delinsCCTGTAGAGACCGTG) | |
| 4 | g.6291546_6291559del | CA549707995 | WFS1 | c.631+179_631+192del (n.631+179_631+192del) c.608+192_608+205del c.*105_*118del (n.*105_*118del) c.382+179_382+192del (n.382+179_382+192del) c.430+179_430+192del (n.430+179_430+192del) c.228+179_228+192del n.816+179_816+192del c.640+179_640+192del (n.640+179_640+192del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291551_6291556del | CA2760284068 | WFS1 | c.631+184_631+189del (n.631+184_631+189del) c.608+197_608+202del c.*110_*115del (n.*110_*115del) c.382+184_382+189del (n.382+184_382+189del) c.430+184_430+189del (n.430+184_430+189del) c.228+184_228+189del n.816+184_816+189del c.640+184_640+189del (n.640+184_640+189del) | |
| 4 | g.6291556_6291559del | CA2760284076 | WFS1 | c.631+189_631+192del (n.631+189_631+192del) c.608+202_608+205del c.*115_*118del (n.*115_*118del) c.382+189_382+192del (n.382+189_382+192del) c.430+189_430+192del (n.430+189_430+192del) c.228+189_228+192del n.816+189_816+192del c.640+189_640+192del (n.640+189_640+192del) | |
| 4 | g.6291556G>A | CA91794607 | WFS1 | c.631+189G>A (n.631+189G>A) c.608+202G>A c.*115G>A (n.*115G>A) c.382+189G>A (n.382+189G>A) c.430+189G>A (n.430+189G>A) c.228+189G>A n.816+189G>A c.640+189G>A (n.640+189G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291556G= | CA1435768754 | WFS1 | c.631+189G= (n.631+189G=) c.608+202G= c.*115G= (n.*115G=) c.382+189G= (n.382+189G=) c.430+189G= (n.430+189G=) c.228+189G= n.816+189G= c.640+189G= (n.640+189G=) | |
| 4 | g.6291556_6291557insACT | CA2760284084 | WFS1 | c.631+189_631+190insACT (n.631+189_631+190insACT) c.608+202_608+203insACT c.*115_*116insACT (n.*115_*116insACT) c.382+189_382+190insACT (n.382+189_382+190insACT) c.430+189_430+190insACT (n.430+189_430+190insACT) c.228+189_228+190insACT n.816+189_816+190insACT c.640+189_640+190insACT (n.640+189_640+190insACT) | |
| 4 | g.6291557T>A | CA2760284086 | WFS1 | c.631+190T>A (n.631+190T>A) c.608+203T>A c.*116T>A (n.*116T>A) c.382+190T>A (n.382+190T>A) c.430+190T>A (n.430+190T>A) c.228+190T>A n.816+190T>A c.640+190T>A (n.640+190T>A) | |
| 4 | g.6291557T>C | CA2760284085 | WFS1 | c.631+190T>C (n.631+190T>C) c.608+203T>C c.*116T>C (n.*116T>C) c.382+190T>C (n.382+190T>C) c.430+190T>C (n.430+190T>C) c.228+190T>C n.816+190T>C c.640+190T>C (n.640+190T>C) | |
| 4 | g.6291557_6291558insAGA | CA2760284087 | WFS1 | c.631+190_631+191insAGA (n.631+190_631+191insAGA) c.608+203_608+204insAGA c.*116_*117insAGA (n.*116_*117insAGA) c.382+190_382+191insAGA (n.382+190_382+191insAGA) c.430+190_430+191insAGA (n.430+190_430+191insAGA) c.228+190_228+191insAGA n.816+190_816+191insAGA c.640+190_640+191insAGA (n.640+190_640+191insAGA) | |
| 4 | g.6291558G>A | CA2760284088 | WFS1 | c.631+191G>A (n.631+191G>A) c.608+204G>A c.*117G>A (n.*117G>A) c.382+191G>A (n.382+191G>A) c.430+191G>A (n.430+191G>A) c.228+191G>A n.816+191G>A c.640+191G>A (n.640+191G>A) | |
| 4 | g.6291558G>T | CA2760284089 | WFS1 | c.631+191G>T (n.631+191G>T) c.608+204G>T c.*117G>T (n.*117G>T) c.382+191G>T (n.382+191G>T) c.430+191G>T (n.430+191G>T) c.228+191G>T n.816+191G>T c.640+191G>T (n.640+191G>T) | |
| 4 | g.6291558_6291559delinsGC | CA1435768755 | WFS1 | c.631+191_631+192delinsGC (n.631+191_631+192delinsGC) c.608+204_608+205delinsGC c.*117_*118delinsGC (n.*117_*118delinsGC) c.382+191_382+192delinsGC (n.382+191_382+192delinsGC) c.430+191_430+192delinsGC (n.430+191_430+192delinsGC) c.228+191_228+192delinsGC n.816+191_816+192delinsGC c.640+191_640+192delinsGC (n.640+191_640+192delinsGC) | |
| 4 | g.6291558_6291559insAGT | CA2760284090 | WFS1 | c.631+191_631+192insAGT (n.631+191_631+192insAGT) c.608+204_608+205insAGT c.*117_*118insAGT (n.*117_*118insAGT) c.382+191_382+192insAGT (n.382+191_382+192insAGT) c.430+191_430+192insAGT (n.430+191_430+192insAGT) c.228+191_228+192insAGT n.816+191_816+192insAGT c.640+191_640+192insAGT (n.640+191_640+192insAGT) | |
| 4 | g.6291559C>A | CA2760284092 | WFS1 | c.631+192C>A (n.631+192C>A) c.608+205C>A c.*118C>A (n.*118C>A) c.382+192C>A (n.382+192C>A) c.430+192C>A (n.430+192C>A) c.228+192C>A n.816+192C>A c.640+192C>A (n.640+192C>A) | |
| 4 | g.6291559C= | CA1435768756 | WFS1 | c.631+192C= (n.631+192C=) c.608+205C= c.*118C= (n.*118C=) c.382+192C= (n.382+192C=) c.430+192C= (n.430+192C=) c.228+192C= n.816+192C= c.640+192C= (n.640+192C=) | |
| 4 | g.6291559C>G | CA797128047 | WFS1 | c.631+192C>G (n.631+192C>G) c.608+205C>G c.*118C>G (n.*118C>G) c.382+192C>G (n.382+192C>G) c.430+192C>G (n.430+192C>G) c.228+192C>G n.816+192C>G c.640+192C>G (n.640+192C>G) | dbSNP |
| 4 | g.6291559_6291561del | CA2760284091 | WFS1 | c.631+192_631+194del (n.631+192_631+194del) c.608+205_608+207del c.*118_*120del (n.*118_*120del) c.382+192_382+194del (n.382+192_382+194del) c.430+192_430+194del (n.430+192_430+194del) c.228+192_228+194del n.816+192_816+194del c.640+192_640+194del (n.640+192_640+194del) | |
| 4 | g.6291561del | CA549707997 | WFS1 | c.631+194del (n.631+194del) c.608+207del c.*120del (n.*120del) c.382+194del (n.382+194del) c.430+194del (n.430+194del) c.228+194del n.816+194del c.640+194del (n.640+194del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291559_6291560insAA | CA2760284093 | WFS1 | c.631+192_631+193insAA (n.631+192_631+193insAA) c.608+205_608+206insAA c.*118_*119insAA (n.*118_*119insAA) c.382+192_382+193insAA (n.382+192_382+193insAA) c.430+192_430+193insAA (n.430+192_430+193insAA) c.228+192_228+193insAA n.816+192_816+193insAA c.640+192_640+193insAA (n.640+192_640+193insAA) | |
| 4 | g.6291560C>A | CA2760284094 | WFS1 | c.631+193C>A (n.631+193C>A) c.608+206C>A c.*119C>A (n.*119C>A) c.382+193C>A (n.382+193C>A) c.430+193C>A (n.430+193C>A) c.228+193C>A n.816+193C>A c.640+193C>A (n.640+193C>A) | |
| 4 | g.6291560C= | CA1435768757 | WFS1 | c.631+193C= (n.631+193C=) c.608+206C= c.*119C= (n.*119C=) c.382+193C= (n.382+193C=) c.430+193C= (n.430+193C=) c.228+193C= n.816+193C= c.640+193C= (n.640+193C=) | |
| 4 | g.6291560C>G | CA91794608 | WFS1 | c.631+193C>G (n.631+193C>G) c.608+206C>G c.*119C>G (n.*119C>G) c.382+193C>G (n.382+193C>G) c.430+193C>G (n.430+193C>G) c.228+193C>G n.816+193C>G c.640+193C>G (n.640+193C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291561C= | CA1435768758 | WFS1 | c.631+194C= (n.631+194C=) c.608+207C= c.*120C= (n.*120C=) c.382+194C= (n.382+194C=) c.430+194C= (n.430+194C=) c.228+194C= n.816+194C= c.640+194C= (n.640+194C=) | |
| 4 | g.6291561C>G | CA91794609 | WFS1 | c.631+194C>G (n.631+194C>G) c.608+207C>G c.*120C>G (n.*120C>G) c.382+194C>G (n.382+194C>G) c.430+194C>G (n.430+194C>G) c.228+194C>G n.816+194C>G c.640+194C>G (n.640+194C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291561C>T | CA2760284096 | WFS1 | c.631+194C>T (n.631+194C>T) c.608+207C>T c.*120C>T (n.*120C>T) c.382+194C>T (n.382+194C>T) c.430+194C>T (n.430+194C>T) c.228+194C>T n.816+194C>T c.640+194C>T (n.640+194C>T) | |
| 4 | g.6291561_6291562insA | CA2760284098 | WFS1 | c.631+194_631+195insA (n.631+194_631+195insA) c.608+207_608+208insA c.*120_*121insA (n.*120_*121insA) c.382+194_382+195insA (n.382+194_382+195insA) c.430+194_430+195insA (n.430+194_430+195insA) c.228+194_228+195insA n.816+194_816+195insA c.640+194_640+195insA (n.640+194_640+195insA) | |
| 4 | g.6291562T>C | CA2760284099 | WFS1 | c.631+195T>C (n.631+195T>C) c.608+208T>C c.*121T>C (n.*121T>C) c.382+195T>C (n.382+195T>C) c.430+195T>C (n.430+195T>C) c.228+195T>C n.816+195T>C c.640+195T>C (n.640+195T>C) | |
| 4 | g.6291563A= | CA1435768759 | WFS1 | c.631+196A= (n.631+196A=) c.608+209A= c.*122A= (n.*122A=) c.382+196A= (n.382+196A=) c.430+196A= (n.430+196A=) c.228+196A= n.816+196A= c.640+196A= (n.640+196A=) | |
| 4 | g.6291563A>G | CA549707998 | WFS1 | c.631+196A>G (n.631+196A>G) c.608+209A>G c.*122A>G (n.*122A>G) c.382+196A>G (n.382+196A>G) c.430+196A>G (n.430+196A>G) c.228+196A>G n.816+196A>G c.640+196A>G (n.640+196A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291563dup | CA2760284100 | WFS1 | c.631+196dup (n.631+196dup) c.608+209dup c.*122dup (n.*122dup) c.382+196dup (n.382+196dup) c.430+196dup (n.430+196dup) c.228+196dup n.816+196dup c.640+196dup (n.640+196dup) | |
| 4 | g.6291566G>A | CA2760284101 | WFS1 | c.631+199G>A (n.631+199G>A) c.608+212G>A c.*125G>A (n.*125G>A) c.382+199G>A (n.382+199G>A) c.430+199G>A (n.430+199G>A) c.228+199G>A n.816+199G>A c.640+199G>A (n.640+199G>A) | |
| 4 | g.6291566_6291567insACT | CA2760284102 | WFS1 | c.631+199_631+200insACT (n.631+199_631+200insACT) c.608+212_608+213insACT c.*125_*126insACT (n.*125_*126insACT) c.382+199_382+200insACT (n.382+199_382+200insACT) c.430+199_430+200insACT (n.430+199_430+200insACT) c.228+199_228+200insACT n.816+199_816+200insACT c.640+199_640+200insACT (n.640+199_640+200insACT) | |
| 4 | g.6291567G>A | CA91794610 | WFS1 | c.631+200G>A (n.631+200G>A) c.608+213G>A c.*126G>A (n.*126G>A) c.382+200G>A (n.382+200G>A) c.430+200G>A (n.430+200G>A) c.228+200G>A n.816+200G>A c.640+200G>A (n.640+200G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291567G= | CA1435768760 | WFS1 | c.631+200G= (n.631+200G=) c.608+213G= c.*126G= (n.*126G=) c.382+200G= (n.382+200G=) c.430+200G= (n.430+200G=) c.228+200G= n.816+200G= c.640+200G= (n.640+200G=) | |
| 4 | g.6291567G>T | CA91794611 | WFS1 | c.631+200G>T (n.631+200G>T) c.608+213G>T c.*126G>T (n.*126G>T) c.382+200G>T (n.382+200G>T) c.430+200G>T (n.430+200G>T) c.228+200G>T n.816+200G>T c.640+200G>T (n.640+200G>T) | dbSNP |
| 4 | g.6291567_6291568insAC | CA2760284103 | WFS1 | c.631+200_631+201insAC (n.631+200_631+201insAC) c.608+213_608+214insAC c.*126_*127insAC (n.*126_*127insAC) c.382+200_382+201insAC (n.382+200_382+201insAC) c.430+200_430+201insAC (n.430+200_430+201insAC) c.228+200_228+201insAC n.816+200_816+201insAC c.640+200_640+201insAC (n.640+200_640+201insAC) | |
| 4 | g.6291568T>C | CA797128054 | WFS1 | c.631+201T>C (n.631+201T>C) c.608+214T>C c.*127T>C (n.*127T>C) c.382+201T>C (n.382+201T>C) c.430+201T>C (n.430+201T>C) c.228+201T>C n.816+201T>C c.640+201T>C (n.640+201T>C) | dbSNP |
| 4 | g.6291568T= | CA1435768761 | WFS1 | c.631+201T= (n.631+201T=) c.608+214T= c.*127T= (n.*127T=) c.382+201T= (n.382+201T=) c.430+201T= (n.430+201T=) c.228+201T= n.816+201T= c.640+201T= (n.640+201T=) | |
| 4 | g.6291568_6291569insA | CA2760284104 | WFS1 | c.631+201_631+202insA (n.631+201_631+202insA) c.608+214_608+215insA c.*127_*128insA (n.*127_*128insA) c.382+201_382+202insA (n.382+201_382+202insA) c.430+201_430+202insA (n.430+201_430+202insA) c.228+201_228+202insA n.816+201_816+202insA c.640+201_640+202insA (n.640+201_640+202insA) | |
| 4 | g.6291571_6291572insA | CA2760284106 | WFS1 | c.631+204_631+205insA (n.631+204_631+205insA) c.608+217_608+218insA c.*130_*131insA (n.*130_*131insA) c.382+204_382+205insA (n.382+204_382+205insA) c.430+204_430+205insA (n.430+204_430+205insA) c.228+204_228+205insA n.816+204_816+205insA c.640+204_640+205insA (n.640+204_640+205insA) | |
| 4 | g.6291571_6291572insACA | CA2760284107 | WFS1 | c.631+204_631+205insACA (n.631+204_631+205insACA) c.608+217_608+218insACA c.*130_*131insACA (n.*130_*131insACA) c.382+204_382+205insACA (n.382+204_382+205insACA) c.430+204_430+205insACA (n.430+204_430+205insACA) c.228+204_228+205insACA n.816+204_816+205insACA c.640+204_640+205insACA (n.640+204_640+205insACA) | |
| 4 | g.6291572G>A | CA2760284108 | WFS1 | c.631+205G>A (n.631+205G>A) c.608+218G>A c.*131G>A (n.*131G>A) c.382+205G>A (n.382+205G>A) c.430+205G>A (n.430+205G>A) c.228+205G>A n.816+205G>A c.640+205G>A (n.640+205G>A) | |
| 4 | g.6291572G>C | CA1435768763 | WFS1 | c.631+205G>C (n.631+205G>C) c.608+218G>C c.*131G>C (n.*131G>C) c.382+205G>C (n.382+205G>C) c.430+205G>C (n.430+205G>C) c.228+205G>C n.816+205G>C c.640+205G>C (n.640+205G>C) | dbSNP |
| 4 | g.6291572G= | CA1435768762 | WFS1 | c.631+205G= (n.631+205G=) c.608+218G= c.*131G= (n.*131G=) c.382+205G= (n.382+205G=) c.430+205G= (n.430+205G=) c.228+205G= n.816+205G= c.640+205G= (n.640+205G=) | |
| 4 | g.6291573T>C | CA2760284109 | WFS1 | c.631+206T>C (n.631+206T>C) c.608+219T>C c.*132T>C (n.*132T>C) c.382+206T>C (n.382+206T>C) c.430+206T>C (n.430+206T>C) c.228+206T>C n.816+206T>C c.640+206T>C (n.640+206T>C) | |
| 4 | g.6291574G>C | CA549707999 | WFS1 | c.631+207G>C (n.631+207G>C) c.608+220G>C c.*133G>C (n.*133G>C) c.382+207G>C (n.382+207G>C) c.430+207G>C (n.430+207G>C) c.228+207G>C n.816+207G>C c.640+207G>C (n.640+207G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291574G= | CA1435768764 | WFS1 | c.631+207G= (n.631+207G=) c.608+220G= c.*133G= (n.*133G=) c.382+207G= (n.382+207G=) c.430+207G= (n.430+207G=) c.228+207G= n.816+207G= c.640+207G= (n.640+207G=) | |
| 4 | g.6291576_6291577insAGT | CA2760284110 | WFS1 | c.631+209_631+210insAGT (n.631+209_631+210insAGT) c.608+222_608+223insAGT c.*135_*136insAGT (n.*135_*136insAGT) c.382+209_382+210insAGT (n.382+209_382+210insAGT) c.430+209_430+210insAGT (n.430+209_430+210insAGT) c.228+209_228+210insAGT n.816+209_816+210insAGT c.640+209_640+210insAGT (n.640+209_640+210insAGT) | |
| 4 | g.6291579G>A | CA1435768766 | WFS1 | c.631+212G>A (n.631+212G>A) c.608+225G>A c.*138G>A (n.*138G>A) c.382+212G>A (n.382+212G>A) c.430+212G>A (n.430+212G>A) c.228+212G>A n.816+212G>A c.640+212G>A (n.640+212G>A) | dbSNP |