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.2165268_2165977del | CA913184914 | TH | c.1104+25_1298del c.822+25_1016del c.1185+25_1379del c.1197+25_1391del c.1116+25_1310del | |
| 11 | g.2165281_2165284del | CA2580615595 | TH | c.1287_1290del (p.Val430ThrfsTer27) c.1005_1008del (p.Val336ThrfsTer27) c.1368_1371del (p.Val457ThrfsTer27) c.1380_1383del (p.Val461ThrfsTer27) c.1299_1302del (p.Val434ThrfsTer27) | ClinVar |
| 11 | g.2165283_2165284del | CA912971956 | TH | c.1282_1283del (p.Gln428ValfsTer7) c.1000_1001del (p.Gln334ValfsTer7) c.1363_1364del (p.Gln455ValfsTer7) c.1375_1376del (p.Gln459ValfsTer7) c.1294_1295del (p.Gln432ValfsTer7) | |
| 11 | g.2165283_2165284delinsTG | CA1948003503 | TH | c.1282_1283delinsCA (p.Gln428=) c.1000_1001delinsCA (p.Gln334=) c.1363_1364delinsCA (p.Gln455=) c.1375_1376delinsCA (p.Gln459=) c.1294_1295delinsCA (p.Gln432=) | |
| 11 | g.2165284G>A | CA278473 | TH | c.1282C>T (p.Gln428Ter) c.1000C>T (p.Gln334Ter) c.1363C>T (p.Gln455Ter) c.1375C>T (p.Gln459Ter) c.1294C>T (p.Gln432Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.2165284G>C | CA379125035 | TH | c.1282C>G (p.Gln428Glu) c.1000C>G (p.Gln334Glu) c.1363C>G (p.Gln455Glu) c.1375C>G (p.Gln459Glu) c.1294C>G (p.Gln432Glu) | |
| 11 | g.2165284G= | CA1948003512 | TH | c.1282C= (p.Gln428=) c.1000C= (p.Gln334=) c.1363C= (p.Gln455=) c.1375C= (p.Gln459=) c.1294C= (p.Gln432=) | |
| 11 | g.2165284G>T | CA379125036 | TH | c.1282C>A (p.Gln428Lys) c.1000C>A (p.Gln334Lys) c.1363C>A (p.Gln455Lys) c.1375C>A (p.Gln459Lys) c.1294C>A (p.Gln432Lys) | |
| 11 | g.2165285del | CA658821334 | TH | c.1282del (p.Gln428SerfsTer30) c.1000del (p.Gln334SerfsTer30) c.1363del (p.Gln455SerfsTer30) c.1375del (p.Gln459SerfsTer30) c.1294del (p.Gln432SerfsTer30) | ClinVar dbSNP |
| 11 | g.2165285G>A | CA472033828 | TH | c.1281C>T (p.Tyr427=) c.999C>T (p.Tyr333=) c.1362C>T (p.Tyr454=) c.1374C>T (p.Tyr458=) c.1293C>T (p.Tyr431=) | gnomAD v4 |
| 11 | g.2165285G>C | CA379125037 | TH | c.1281C>G (p.Tyr427Ter) c.999C>G (p.Tyr333Ter) c.1362C>G (p.Tyr454Ter) c.1374C>G (p.Tyr458Ter) c.1293C>G (p.Tyr431Ter) | |
| 11 | g.2165285G>T | CA379125038 | TH | c.1281C>A (p.Tyr427Ter) c.999C>A (p.Tyr333Ter) c.1362C>A (p.Tyr454Ter) c.1374C>A (p.Tyr458Ter) c.1293C>A (p.Tyr431Ter) | COSMIC |
| 11 | g.2165286T>A | CA379125039 | TH | c.1280A>T (p.Tyr427Phe) c.998A>T (p.Tyr333Phe) c.1361A>T (p.Tyr454Phe) c.1373A>T (p.Tyr458Phe) c.1292A>T (p.Tyr431Phe) | |
| 11 | g.2165286T>C | CA379125040 | TH | c.1280A>G (p.Tyr427Cys) c.998A>G (p.Tyr333Cys) c.1361A>G (p.Tyr454Cys) c.1373A>G (p.Tyr458Cys) c.1292A>G (p.Tyr431Cys) | gnomAD v4 |
| 11 | g.2165286T>G | CA379125041 | TH | c.1280A>C (p.Tyr427Ser) c.998A>C (p.Tyr333Ser) c.1361A>C (p.Tyr454Ser) c.1373A>C (p.Tyr458Ser) c.1292A>C (p.Tyr431Ser) | |
| 11 | g.2165286_2165289delinsTACG | CA1948003519 | TH | c.1277_1280delinsCGTA (p.Thr426=) c.995_998delinsCGTA (p.Thr332=) c.1358_1361delinsCGTA (p.Thr453=) c.1370_1373delinsCGTA (p.Thr457=) c.1289_1292delinsCGTA (p.Thr430=) | |
| 11 | g.2165287A>C | CA379125042 | TH | c.1279T>G (p.Tyr427Asp) c.997T>G (p.Tyr333Asp) c.1360T>G (p.Tyr454Asp) c.1372T>G (p.Tyr458Asp) c.1291T>G (p.Tyr431Asp) | |
| 11 | g.2165287A>G | CA379125044 | TH | c.1279T>C (p.Tyr427His) c.997T>C (p.Tyr333His) c.1360T>C (p.Tyr454His) c.1372T>C (p.Tyr458His) c.1291T>C (p.Tyr431His) | gnomAD v4 |
| 11 | g.2165287A>T | CA379125043 | TH | c.1279T>A (p.Tyr427Asn) c.997T>A (p.Tyr333Asn) c.1360T>A (p.Tyr454Asn) c.1372T>A (p.Tyr458Asn) c.1291T>A (p.Tyr431Asn) | |
| 11 | g.2165287_2165289del | CA5818311 | TH | c.1277_1279del (p.Thr426_Tyr427delinsAsn) c.995_997del (p.Thr332_Tyr333delinsAsn) c.1358_1360del (p.Thr453_Tyr454delinsAsn) c.1370_1372del (p.Thr457_Tyr458delinsAsn) c.1289_1291del (p.Thr430_Tyr431delinsAsn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165288C>A | CA472033838 | TH | c.1278G>T (p.Thr426=) c.996G>T (p.Thr332=) c.1359G>T (p.Thr453=) c.1371G>T (p.Thr457=) c.1290G>T (p.Thr430=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2165288C= | CA1948003523 | TH | c.1278G= (p.Thr426=) c.996G= (p.Thr332=) c.1359G= (p.Thr453=) c.1371G= (p.Thr457=) c.1290G= (p.Thr430=) | |
| 11 | g.2165288C>G | CA472033840 | TH | c.1278G>C (p.Thr426=) c.996G>C (p.Thr332=) c.1359G>C (p.Thr453=) c.1371G>C (p.Thr457=) c.1290G>C (p.Thr430=) | |
| 11 | g.2165288C>T | CA5818312 | TH | c.1278G>A (p.Thr426=) c.996G>A (p.Thr332=) c.1359G>A (p.Thr453=) c.1371G>A (p.Thr457=) c.1290G>A (p.Thr430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165289G>A | CA5818313 | TH | c.1277C>T (p.Thr426Met) c.995C>T (p.Thr332Met) c.1358C>T (p.Thr453Met) c.1370C>T (p.Thr457Met) c.1289C>T (p.Thr430Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165289G>C | CA379125045 | TH | c.1277C>G (p.Thr426Arg) c.995C>G (p.Thr332Arg) c.1358C>G (p.Thr453Arg) c.1370C>G (p.Thr457Arg) c.1289C>G (p.Thr430Arg) | |
| 11 | g.2165289G= | CA1948003529 | TH | c.1277C= (p.Thr426=) c.995C= (p.Thr332=) c.1358C= (p.Thr453=) c.1370C= (p.Thr457=) c.1289C= (p.Thr430=) | |
| 11 | g.2165289G>T | CA379125046 | TH | c.1277C>A (p.Thr426Lys) c.995C>A (p.Thr332Lys) c.1358C>A (p.Thr453Lys) c.1370C>A (p.Thr457Lys) c.1289C>A (p.Thr430Lys) | |
| 11 | g.2165290T>A | CA379125047 | TH | c.1276A>T (p.Thr426Ser) c.994A>T (p.Thr332Ser) c.1357A>T (p.Thr453Ser) c.1369A>T (p.Thr457Ser) c.1288A>T (p.Thr430Ser) | |
| 11 | g.2165290T>C | CA379125048 | TH | c.1276A>G (p.Thr426Ala) c.994A>G (p.Thr332Ala) c.1357A>G (p.Thr453Ala) c.1369A>G (p.Thr457Ala) c.1288A>G (p.Thr430Ala) | gnomAD v4 |
| 11 | g.2165290T>G | CA379125049 | TH | c.1276A>C (p.Thr426Pro) c.994A>C (p.Thr332Pro) c.1357A>C (p.Thr453Pro) c.1369A>C (p.Thr457Pro) c.1288A>C (p.Thr430Pro) | |
| 11 | g.2165291C>A | CA379125050 | TH | c.1275G>T (p.Gln425His) c.993G>T (p.Gln331His) c.1356G>T (p.Gln452His) c.1368G>T (p.Gln456His) c.1287G>T (p.Gln429His) | |
| 11 | g.2165291C>G | CA379125051 | TH | c.1275G>C (p.Gln425His) c.993G>C (p.Gln331His) c.1356G>C (p.Gln452His) c.1368G>C (p.Gln456His) c.1287G>C (p.Gln429His) | |
| 11 | g.2165291C>T | CA472033854 | TH | c.1275G>A (p.Gln425=) c.993G>A (p.Gln331=) c.1356G>A (p.Gln452=) c.1368G>A (p.Gln456=) c.1287G>A (p.Gln429=) | |
| 11 | g.2165292T>A | CA379125057 | TH | c.1274A>T (p.Gln425Leu) c.992A>T (p.Gln331Leu) c.1355A>T (p.Gln452Leu) c.1367A>T (p.Gln456Leu) c.1286A>T (p.Gln429Leu) | |
| 11 | g.2165292T>C | CA379125055 | TH | c.1274A>G (p.Gln425Arg) c.992A>G (p.Gln331Arg) c.1355A>G (p.Gln452Arg) c.1367A>G (p.Gln456Arg) c.1286A>G (p.Gln429Arg) | |
| 11 | g.2165292T>G | CA379125053 | TH | c.1274A>C (p.Gln425Pro) c.992A>C (p.Gln331Pro) c.1355A>C (p.Gln452Pro) c.1367A>C (p.Gln456Pro) c.1286A>C (p.Gln429Pro) | |
| 11 | g.2165293G>A | CA379125060 | TH | c.1273C>T (p.Gln425Ter) c.991C>T (p.Gln331Ter) c.1354C>T (p.Gln452Ter) c.1366C>T (p.Gln456Ter) c.1285C>T (p.Gln429Ter) | ClinVar |
| 11 | g.2165293G>C | CA379125062 | TH | c.1273C>G (p.Gln425Glu) c.991C>G (p.Gln331Glu) c.1354C>G (p.Gln452Glu) c.1366C>G (p.Gln456Glu) c.1285C>G (p.Gln429Glu) | gnomAD v4 |
| 11 | g.2165293G>T | CA379125064 | TH | c.1273C>A (p.Gln425Lys) c.991C>A (p.Gln331Lys) c.1354C>A (p.Gln452Lys) c.1366C>A (p.Gln456Lys) c.1285C>A (p.Gln429Lys) | |
| 11 | g.2165294G>A | CA472033863 | TH | c.1272C>T (p.Asp424=) c.*961C>T (n.*961C>T) c.990C>T (p.Asp330=) c.1353C>T (p.Asp451=) c.1365C>T (p.Asp455=) c.1284C>T (p.Asp428=) | ClinVar dbSNP |
| 11 | g.2165294G>C | CA379125067 | TH | c.1272C>G (p.Asp424Glu) c.*961C>G (n.*961C>G) c.990C>G (p.Asp330Glu) c.1353C>G (p.Asp451Glu) c.1365C>G (p.Asp455Glu) c.1284C>G (p.Asp428Glu) | |
| 11 | g.2165294G>T | CA379125069 | TH | c.1272C>A (p.Asp424Glu) c.*961C>A (n.*961C>A) c.990C>A (p.Asp330Glu) c.1353C>A (p.Asp451Glu) c.1365C>A (p.Asp455Glu) c.1284C>A (p.Asp428Glu) | |
| 11 | g.2165295T>A | CA379125072 | TH | c.1271A>T (p.Asp424Val) c.*960A>T (n.*960A>T) c.989A>T (p.Asp330Val) c.1352A>T (p.Asp451Val) c.1364A>T (p.Asp455Val) c.1283A>T (p.Asp428Val) | |
| 11 | g.2165295T>C | CA379125074 | TH | c.1271A>G (p.Asp424Gly) c.*960A>G (n.*960A>G) c.989A>G (p.Asp330Gly) c.1352A>G (p.Asp451Gly) c.1364A>G (p.Asp455Gly) c.1283A>G (p.Asp428Gly) | |
| 11 | g.2165295T>G | CA379125076 | TH | c.1271A>C (p.Asp424Ala) c.*960A>C (n.*960A>C) c.989A>C (p.Asp330Ala) c.1352A>C (p.Asp451Ala) c.1364A>C (p.Asp455Ala) c.1283A>C (p.Asp428Ala) | ClinVar dbSNP |
| 11 | g.2165295T= | CA1948003533 | TH | c.1271A= (p.Asp424=) c.*960A= (n.*960A=) c.989A= (p.Asp330=) c.1352A= (p.Asp451=) c.1364A= (p.Asp455=) c.1283A= (p.Asp428=) | |
| 11 | g.2165296C>A | CA379125079 | TH | c.1270G>T (p.Asp424Tyr) c.*959G>T (n.*959G>T) c.988G>T (p.Asp330Tyr) c.1351G>T (p.Asp451Tyr) c.1363G>T (p.Asp455Tyr) c.1282G>T (p.Asp428Tyr) | |
| 11 | g.2165296C>G | CA379125082 | TH | c.1270G>C (p.Asp424His) c.*959G>C (n.*959G>C) c.988G>C (p.Asp330His) c.1351G>C (p.Asp451His) c.1363G>C (p.Asp455His) c.1282G>C (p.Asp428His) | gnomAD v4 |
| 11 | g.2165296C>T | CA379125083 | TH | c.1270G>A (p.Asp424Asn) c.*959G>A (n.*959G>A) c.988G>A (p.Asp330Asn) c.1351G>A (p.Asp451Asn) c.1363G>A (p.Asp455Asn) c.1282G>A (p.Asp428Asn) |