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.13728658_13728669delinsATCTGGCGCATT | CA1953439101 | FAR1 | c.*257_*268delinsATCTGGCGCATT (n.*257_*268delinsATCTGGCGCATT) c.1432_1443delinsATCTGGCGCATT (p.Ile478=) c.304_315delinsATCTGGCGCATT (p.Ile102=) c.1441_1452delinsATCTGGCGCATT (p.Ile481=) c.1264_1275delinsATCTGGCGCATT (p.Ile422=) | |
| 11 | g.13728660_13728670del | CA5893561 | FAR1 | c.*259_*269del (n.*259_*269del) c.1434_1444del (p.Trp479TyrfsTer16) c.306_316del (p.Trp103TyrfsTer16) c.1443_1453del (p.Trp482TyrfsTer16) c.1266_1276del (p.Trp423TyrfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728665G>A | CA16042832 | FAR1 | c.*264G>A (n.*264G>A) c.1439G>A (p.Arg480His) c.311G>A (p.Arg104His) c.1448G>A (p.Arg483His) c.1271G>A (p.Arg424His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.13728665G>C | CA379859373 | FAR1 | c.*264G>C (n.*264G>C) c.1439G>C (p.Arg480Pro) c.311G>C (p.Arg104Pro) c.1448G>C (p.Arg483Pro) c.1271G>C (p.Arg424Pro) | |
| 11 | g.13728665G= | CA1953439103 | FAR1 | c.*264G= (n.*264G=) c.1439G= (p.Arg480=) c.311G= (p.Arg104=) c.1448G= (p.Arg483=) c.1271G= (p.Arg424=) | |
| 11 | g.13728665G>T | CA379859374 | FAR1 | c.*264G>T (n.*264G>T) c.1439G>T (p.Arg480Leu) c.311G>T (p.Arg104Leu) c.1448G>T (p.Arg483Leu) c.1271G>T (p.Arg424Leu) | ClinVar dbSNP |
| 11 | g.13728666C>A | CA473229141 | FAR1 | c.*265C>A (n.*265C>A) c.1440C>A (p.Arg480=) c.312C>A (p.Arg104=) c.1449C>A (p.Arg483=) c.1272C>A (p.Arg424=) | |
| 11 | g.13728666C= | CA1953439104 | FAR1 | c.*265C= (n.*265C=) c.1440C= (p.Arg480=) c.312C= (p.Arg104=) c.1449C= (p.Arg483=) c.1272C= (p.Arg424=) | |
| 11 | g.13728666C>G | CA473229142 | FAR1 | c.*265C>G (n.*265C>G) c.1440C>G (p.Arg480=) c.312C>G (p.Arg104=) c.1449C>G (p.Arg483=) c.1272C>G (p.Arg424=) | |
| 11 | g.13728666C>T | CA5893562 | FAR1 | c.*265C>T (n.*265C>T) c.1440C>T (p.Arg480=) c.312C>T (p.Arg104=) c.1449C>T (p.Arg483=) c.1272C>T (p.Arg424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728667A>C | CA379859375 | FAR1 | c.*266A>C (n.*266A>C) c.1441A>C (p.Ile481Leu) c.313A>C (p.Ile105Leu) c.1450A>C (p.Ile484Leu) c.1273A>C (p.Ile425Leu) | |
| 11 | g.13728667A>G | CA379859376 | FAR1 | c.*266A>G (n.*266A>G) c.1441A>G (p.Ile481Val) c.313A>G (p.Ile105Val) c.1450A>G (p.Ile484Val) c.1273A>G (p.Ile425Val) | gnomAD v4 |
| 11 | g.13728667A>T | CA379859377 | FAR1 | c.*266A>T (n.*266A>T) c.1441A>T (p.Ile481Phe) c.313A>T (p.Ile105Phe) c.1450A>T (p.Ile484Phe) c.1273A>T (p.Ile425Phe) | |
| 11 | g.13728668T>A | CA379859378 | FAR1 | c.*267T>A (n.*267T>A) c.1442T>A (p.Ile481Asn) c.314T>A (p.Ile105Asn) c.1451T>A (p.Ile484Asn) c.1274T>A (p.Ile425Asn) | |
| 11 | g.13728668T>C | CA379859379 | FAR1 | c.*267T>C (n.*267T>C) c.1442T>C (p.Ile481Thr) c.314T>C (p.Ile105Thr) c.1451T>C (p.Ile484Thr) c.1274T>C (p.Ile425Thr) | |
| 11 | g.13728668T>G | CA379859380 | FAR1 | c.*267T>G (n.*267T>G) c.1442T>G (p.Ile481Ser) c.314T>G (p.Ile105Ser) c.1451T>G (p.Ile484Ser) c.1274T>G (p.Ile425Ser) | |
| 11 | g.13728669T>A | CA473229144 | FAR1 | c.*268T>A (n.*268T>A) c.1443T>A (p.Ile481=) c.315T>A (p.Ile105=) c.1452T>A (p.Ile484=) c.1275T>A (p.Ile425=) | |
| 11 | g.13728669T>C | CA473229145 | FAR1 | c.*268T>C (n.*268T>C) c.1443T>C (p.Ile481=) c.315T>C (p.Ile105=) c.1452T>C (p.Ile484=) c.1275T>C (p.Ile425=) | |
| 11 | g.13728669T>G | CA379859381 | FAR1 | c.*268T>G (n.*268T>G) c.1443T>G (p.Ile481Met) c.315T>G (p.Ile105Met) c.1452T>G (p.Ile484Met) c.1275T>G (p.Ile425Met) | |
| 11 | g.13728670T>A | CA379859383 | FAR1 | c.*269T>A (n.*269T>A) c.1444T>A (p.Phe482Ile) c.316T>A (p.Phe106Ile) c.1453T>A (p.Phe485Ile) c.1276T>A (p.Phe426Ile) | |
| 11 | g.13728670T>C | CA379859384 | FAR1 | c.*269T>C (n.*269T>C) c.1444T>C (p.Phe482Leu) c.316T>C (p.Phe106Leu) c.1453T>C (p.Phe485Leu) c.1276T>C (p.Phe426Leu) | |
| 11 | g.13728670T>G | CA379859382 | FAR1 | c.*269T>G (n.*269T>G) c.1444T>G (p.Phe482Val) c.316T>G (p.Phe106Val) c.1453T>G (p.Phe485Val) c.1276T>G (p.Phe426Val) | |
| 11 | g.13728671T>A | CA379859385 | FAR1 | c.*270T>A (n.*270T>A) c.1445T>A (p.Phe482Tyr) c.317T>A (p.Phe106Tyr) c.1454T>A (p.Phe485Tyr) c.1277T>A (p.Phe426Tyr) | |
| 11 | g.13728671T>C | CA379859386 | FAR1 | c.*270T>C (n.*270T>C) c.1445T>C (p.Phe482Ser) c.317T>C (p.Phe106Ser) c.1454T>C (p.Phe485Ser) c.1277T>C (p.Phe426Ser) | |
| 11 | g.13728671T>G | CA379859387 | FAR1 | c.*270T>G (n.*270T>G) c.1445T>G (p.Phe482Cys) c.317T>G (p.Phe106Cys) c.1454T>G (p.Phe485Cys) c.1277T>G (p.Phe426Cys) | |
| 11 | g.13728672T>A | CA379859388 | FAR1 | c.*271T>A (n.*271T>A) c.1446T>A (p.Phe482Leu) c.318T>A (p.Phe106Leu) c.1455T>A (p.Phe485Leu) c.1278T>A (p.Phe426Leu) | |
| 11 | g.13728672T>C | CA473229146 | FAR1 | c.*271T>C (n.*271T>C) c.1446T>C (p.Phe482=) c.318T>C (p.Phe106=) c.1455T>C (p.Phe485=) c.1278T>C (p.Phe426=) | |
| 11 | g.13728672T>G | CA379859389 | FAR1 | c.*271T>G (n.*271T>G) c.1446T>G (p.Phe482Leu) c.318T>G (p.Phe106Leu) c.1455T>G (p.Phe485Leu) c.1278T>G (p.Phe426Leu) | |
| 11 | g.13728673A>C | CA379859390 | FAR1 | c.*272A>C (n.*272A>C) c.1447A>C (p.Ile483Leu) c.319A>C (p.Ile107Leu) c.1456A>C (p.Ile486Leu) c.1279A>C (p.Ile427Leu) | |
| 11 | g.13728673A>G | CA379859391 | FAR1 | c.*272A>G (n.*272A>G) c.1447A>G (p.Ile483Val) c.319A>G (p.Ile107Val) c.1456A>G (p.Ile486Val) c.1279A>G (p.Ile427Val) | |
| 11 | g.13728673A>T | CA379859392 | FAR1 | c.*272A>T (n.*272A>T) c.1447A>T (p.Ile483Phe) c.319A>T (p.Ile107Phe) c.1456A>T (p.Ile486Phe) c.1279A>T (p.Ile427Phe) | |
| 11 | g.13728674T>A | CA379859393 | FAR1 | c.*273T>A (n.*273T>A) c.1448T>A (p.Ile483Asn) c.320T>A (p.Ile107Asn) c.1457T>A (p.Ile486Asn) c.1280T>A (p.Ile427Asn) | |
| 11 | g.13728674T>C | CA379859394 | FAR1 | c.*273T>C (n.*273T>C) c.1448T>C (p.Ile483Thr) c.320T>C (p.Ile107Thr) c.1457T>C (p.Ile486Thr) c.1280T>C (p.Ile427Thr) | |
| 11 | g.13728674T>G | CA379859395 | FAR1 | c.*273T>G (n.*273T>G) c.1448T>G (p.Ile483Ser) c.320T>G (p.Ile107Ser) c.1457T>G (p.Ile486Ser) c.1280T>G (p.Ile427Ser) | |
| 11 | g.13728675T>A | CA473229148 | FAR1 | c.*274T>A (n.*274T>A) c.1449T>A (p.Ile483=) c.321T>A (p.Ile107=) c.1458T>A (p.Ile486=) c.1281T>A (p.Ile427=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728675T>C | CA473229149 | FAR1 | c.*274T>C (n.*274T>C) c.1449T>C (p.Ile483=) c.321T>C (p.Ile107=) c.1458T>C (p.Ile486=) c.1281T>C (p.Ile427=) | ClinVar COSMIC |
| 11 | g.13728675T>G | CA379859396 | FAR1 | c.*274T>G (n.*274T>G) c.1449T>G (p.Ile483Met) c.321T>G (p.Ile107Met) c.1458T>G (p.Ile486Met) c.1281T>G (p.Ile427Met) | |
| 11 | g.13728675T= | CA1953439105 | FAR1 | c.*274T= (n.*274T=) c.1449T= (p.Ile483=) c.321T= (p.Ile107=) c.1458T= (p.Ile486=) c.1281T= (p.Ile427=) | |
| 11 | g.13728676G>A | CA379859398 | FAR1 | c.*275G>A (n.*275G>A) c.1450G>A (p.Ala484Thr) c.322G>A (p.Ala108Thr) c.1459G>A (p.Ala487Thr) c.1282G>A (p.Ala428Thr) | |
| 11 | g.13728676G>C | CA379859399 | FAR1 | c.*275G>C (n.*275G>C) c.1450G>C (p.Ala484Pro) c.322G>C (p.Ala108Pro) c.1459G>C (p.Ala487Pro) c.1282G>C (p.Ala428Pro) | |
| 11 | g.13728676G>T | CA379859397 | FAR1 | c.*275G>T (n.*275G>T) c.1450G>T (p.Ala484Ser) c.322G>T (p.Ala108Ser) c.1459G>T (p.Ala487Ser) c.1282G>T (p.Ala428Ser) | |
| 11 | g.13728677C>A | CA379859400 | FAR1 | c.*276C>A (n.*276C>A) c.1451C>A (p.Ala484Glu) c.323C>A (p.Ala108Glu) c.1460C>A (p.Ala487Glu) c.1283C>A (p.Ala428Glu) | |
| 11 | g.13728677C= | CA1953439106 | FAR1 | c.*276C= (n.*276C=) c.1451C= (p.Ala484=) c.323C= (p.Ala108=) c.1460C= (p.Ala487=) c.1283C= (p.Ala428=) | |
| 11 | g.13728677C>G | CA379859401 | FAR1 | c.*276C>G (n.*276C>G) c.1451C>G (p.Ala484Gly) c.323C>G (p.Ala108Gly) c.1460C>G (p.Ala487Gly) c.1283C>G (p.Ala428Gly) | |
| 11 | g.13728677C>T | CA379859402 | FAR1 | c.*276C>T (n.*276C>T) c.1451C>T (p.Ala484Val) c.323C>T (p.Ala108Val) c.1460C>T (p.Ala487Val) c.1283C>T (p.Ala428Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728678A>C | CA473229150 | FAR1 | c.*277A>C (n.*277A>C) c.1452A>C (p.Ala484=) c.324A>C (p.Ala108=) c.1461A>C (p.Ala487=) c.1284A>C (p.Ala428=) | |
| 11 | g.13728678A>G | CA473229151 | FAR1 | c.*277A>G (n.*277A>G) c.1452A>G (p.Ala484=) c.324A>G (p.Ala108=) c.1461A>G (p.Ala487=) c.1284A>G (p.Ala428=) | |
| 11 | g.13728678A>T | CA473229152 | FAR1 | c.*277A>T (n.*277A>T) c.1452A>T (p.Ala484=) c.324A>T (p.Ala108=) c.1461A>T (p.Ala487=) c.1284A>T (p.Ala428=) | |
| 11 | g.13728679A= | CA1953439107 | FAR1 | c.*278A= (n.*278A=) c.1453A= (p.Arg485=) c.325A= (p.Arg109=) c.1462A= (p.Arg488=) c.1285A= (p.Arg429=) | |
| 11 | g.13728679A>C | CA218132528 | FAR1 | c.*278A>C (n.*278A>C) c.1453A>C (p.Arg485=) c.325A>C (p.Arg109=) c.1462A>C (p.Arg488=) c.1285A>C (p.Arg429=) | dbSNP |