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 |
|---|---|---|---|---|---|
| 12 | g.38318337_38318421del | CA2618245560 | ALG10B | c.248_332del (p.Phe83TyrfsTer25) c.222_*72del (n.[c.222_*72del;Cys75TyrfsTer?]) c.248_332del (p.Phe83TyrfsTer30) n.1571_1655del c.68_152del (p.Phe23TyrfsTer25) | gnomAD v4 |
| 12 | g.38318339_38318340delinsGC | CA2030022904 | ALG10B | c.250_251delinsGC (p.Ala84=) c.224_225delinsGC (p.Cys75=) n.1573_1574delinsGC c.70_71delinsGC (p.Ala24=) | |
| 12 | g.38318340del | CA688576931 | ALG10B | c.251del (p.Ala84AspfsTer?) c.225del (p.Cys75Ter) n.1574del c.71del (p.Ala24AspfsTer?) | dbSNP |
| 12 | g.38318340C>A | CA384575563 | ALG10B | c.251C>A (p.Ala84Glu) c.225C>A (p.Cys75Ter) n.1574C>A c.71C>A (p.Ala24Glu) | dbSNP |
| 12 | g.38318340C= | CA2030022911 | ALG10B | c.251C= (p.Ala84=) c.225C= (p.Cys75=) n.1574C= c.71C= (p.Ala24=) | |
| 12 | g.38318340C>G | CA6509175 | ALG10B | c.251C>G (p.Ala84Gly) c.225C>G (p.Cys75Trp) n.1574C>G c.71C>G (p.Ala24Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.38318340C>T | CA384575564 | ALG10B | c.251C>T (p.Ala84Val) c.225C>T (p.Cys75=) n.1574C>T c.71C>T (p.Ala24Val) | dbSNP |
| 12 | g.38318341A= | CA2030022920 | ALG10B | c.252A= (p.Ala84=) c.226A= (p.Met76=) n.1575A= c.252A= (p.Gly84=) c.72A= (p.Ala24=) | |
| 12 | g.38318341A>C | CA479321977 | ALG10B | c.252A>C (p.Ala84=) c.226A>C (p.Met76Leu) n.1575A>C c.252A>C (p.Gly84=) c.72A>C (p.Ala24=) | |
| 12 | g.38318341A>G | CA479321976 | ALG10B | c.252A>G (p.Ala84=) c.226A>G (p.Met76Val) n.1575A>G c.252A>G (p.Gly84=) c.72A>G (p.Ala24=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.38318341A>T | CA479321975 | ALG10B | c.252A>T (p.Ala84=) c.226A>T (p.Met76Leu) n.1575A>T c.252A>T (p.Gly84=) c.72A>T (p.Ala24=) | |
| 12 | g.38318342T>A | CA384575565 | ALG10B | c.253T>A (p.Trp85Arg) c.227T>A (p.Met76Lys) n.1576T>A c.73T>A (p.Trp25Arg) | |
| 12 | g.38318342T>C | CA384575566 | ALG10B | c.253T>C (p.Trp85Arg) c.227T>C (p.Met76Thr) n.1576T>C c.73T>C (p.Trp25Arg) | |
| 12 | g.38318342T>G | CA384575567 | ALG10B | c.253T>G (p.Trp85Gly) c.227T>G (p.Met76Arg) n.1576T>G c.73T>G (p.Trp25Gly) | |
| 12 | g.38318343G>A | CA384575570 | ALG10B | c.254G>A (p.Trp85Ter) c.228G>A (p.Met76Ile) n.1577G>A c.74G>A (p.Trp25Ter) | gnomAD v4 |
| 12 | g.38318343G>C | CA384575569 | ALG10B | c.254G>C (p.Trp85Ser) c.228G>C (p.Met76Ile) n.1577G>C c.74G>C (p.Trp25Ser) | gnomAD v4 |
| 12 | g.38318343G= | CA2030022922 | ALG10B | c.254G= (p.Trp85=) c.228G= (p.Met76=) n.1577G= c.74G= (p.Trp25=) | |
| 12 | g.38318343G>T | CA384575568 | ALG10B | c.254G>T (p.Trp85Leu) c.228G>T (p.Met76Ile) n.1577G>T c.74G>T (p.Trp25Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.38318344G>A | CA384575571 | ALG10B | c.255G>A (p.Trp85Ter) c.229G>A (p.Val77Ile) n.1578G>A c.75G>A (p.Trp25Ter) | |
| 12 | g.38318344G>C | CA384575572 | ALG10B | c.255G>C (p.Trp85Cys) c.229G>C (p.Val77Leu) n.1578G>C c.75G>C (p.Trp25Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.38318344G= | CA2030022925 | ALG10B | c.255G= (p.Trp85=) c.229G= (p.Val77=) n.1578G= c.75G= (p.Trp25=) | |
| 12 | g.38318344G>T | CA384575573 | ALG10B | c.255G>T (p.Trp85Cys) c.229G>T (p.Val77Phe) n.1578G>T c.75G>T (p.Trp25Cys) | |
| 12 | g.38318345T>A | CA384575574 | ALG10B | c.256T>A (p.Ser86Thr) c.230T>A (p.Val77Asp) n.1579T>A c.76T>A (p.Ser26Thr) | |
| 12 | g.38318345T>C | CA384575575 | ALG10B | c.256T>C (p.Ser86Pro) c.230T>C (p.Val77Ala) n.1579T>C c.76T>C (p.Ser26Pro) | |
| 12 | g.38318345T>G | CA384575576 | ALG10B | c.256T>G (p.Ser86Ala) c.230T>G (p.Val77Gly) n.1579T>G c.76T>G (p.Ser26Ala) | |
| 12 | g.38318346C>A | CA384575577 | ALG10B | c.257C>A (p.Ser86Tyr) c.231C>A (p.Val77=) n.1580C>A c.77C>A (p.Ser26Tyr) | |
| 12 | g.38318346C>G | CA384575579 | ALG10B | c.257C>G (p.Ser86Cys) c.231C>G (p.Val77=) n.1580C>G c.77C>G (p.Ser26Cys) | gnomAD v4 |
| 12 | g.38318346C>T | CA384575578 | ALG10B | c.257C>T (p.Ser86Phe) c.231C>T (p.Val77=) n.1580C>T c.77C>T (p.Ser26Phe) | |
| 12 | g.38318347T>A | CA479321979 | ALG10B | c.258T>A (p.Ser86=) c.232T>A (p.Ter78Arg) n.1581T>A c.78T>A (p.Ser26=) | |
| 12 | g.38318347T>C | CA479321980 | ALG10B | c.258T>C (p.Ser86=) c.232T>C (p.Ter78Arg) n.1581T>C c.78T>C (p.Ser26=) | |
| 12 | g.38318347T>G | CA479321981 | ALG10B | c.258T>G (p.Ser86=) c.232T>G (p.Ter78Gly) n.1581T>G c.78T>G (p.Ser26=) | |
| 12 | g.38318348G>A | CA384575580 | ALG10B | c.259G>A (p.Glu87Lys) c.233G>A (p.Ter78=) n.1582G>A c.79G>A (p.Glu27Lys) | |
| 12 | g.38318348G>C | CA384575581 | ALG10B | c.259G>C (p.Glu87Gln) c.233G>C (p.Ter78Ser) n.1582G>C c.79G>C (p.Glu27Gln) | |
| 12 | g.38318348G>T | CA384575582 | ALG10B | c.259G>T (p.Glu87Ter) c.233G>T (p.Ter78Leu) n.1582G>T c.79G>T (p.Glu27Ter) | gnomAD v4 |
| 12 | g.38318349A>C | CA384575583 | ALG10B | c.260A>C (p.Glu87Ala) c.234A>C (p.Ter78Cys) n.1583A>C c.80A>C (p.Glu27Ala) | |
| 12 | g.38318349A>G | CA384575584 | ALG10B | c.260A>G (p.Glu87Gly) c.234A>G (p.Ter78Trp) n.1583A>G c.80A>G (p.Glu27Gly) | |
| 12 | g.38318349A>T | CA384575585 | ALG10B | c.260A>T (p.Glu87Val) c.234A>T (p.Ter78Cys) n.1583A>T c.80A>T (p.Glu27Val) | |
| 12 | g.38318350A>C | CA384575586 | ALG10B | c.261A>C (p.Glu87Asp) c.*1A>C (n.*1A>C) n.1584A>C c.81A>C (p.Glu27Asp) | |
| 12 | g.38318350A>G | CA479321982 | ALG10B | c.261A>G (p.Glu87=) c.*1A>G (n.*1A>G) n.1584A>G c.81A>G (p.Glu27=) | |
| 12 | g.38318350A>T | CA384575587 | ALG10B | c.261A>T (p.Glu87Asp) c.*1A>T (n.*1A>T) n.1584A>T c.81A>T (p.Glu27Asp) | |
| 12 | g.38318351C>A | CA384575588 | ALG10B | c.262C>A (p.His88Asn) c.*2C>A (n.*2C>A) n.1585C>A c.82C>A (p.His28Asn) | |
| 12 | g.38318351C= | CA2030022929 | ALG10B | c.262C= (p.His88=) c.*2C= (n.*2C=) n.1585C= c.82C= (p.His28=) | |
| 12 | g.38318351C>G | CA384575589 | ALG10B | c.262C>G (p.His88Asp) c.*2C>G (n.*2C>G) n.1585C>G c.82C>G (p.His28Asp) | |
| 12 | g.38318351C>T | CA235740124 | ALG10B | c.262C>T (p.His88Tyr) c.*2C>T (n.*2C>T) n.1585C>T c.82C>T (p.His28Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.38318352A= | CA2030022935 | ALG10B | c.263A= (p.His88=) c.*3A= (n.*3A=) n.1586A= c.83A= (p.His28=) | |
| 12 | g.38318352A>C | CA384575590 | ALG10B | c.263A>C (p.His88Pro) c.*3A>C (n.*3A>C) n.1586A>C c.83A>C (p.His28Pro) | gnomAD v4 |
| 12 | g.38318352A>G | CA235740125 | ALG10B | c.263A>G (p.His88Arg) c.*3A>G (n.*3A>G) n.1586A>G c.83A>G (p.His28Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.38318352A>T | CA6509176 | ALG10B | c.263A>T (p.His88Leu) c.*3A>T (n.*3A>T) n.1586A>T c.83A>T (p.His28Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.38318352_38318355delinsATGT | CA2030022933 | ALG10B | c.263_266delinsATGT (p.His88=) c.*3_*6delinsATGT (n.*3_*6delinsATGT) n.1586_1589delinsATGT c.83_86delinsATGT (p.His28=) | |
| 12 | g.38318353T>A | CA384575591 | ALG10B | c.264T>A (p.His88Gln) c.*4T>A (n.*4T>A) n.1587T>A c.84T>A (p.His28Gln) |