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 |
|---|---|---|---|---|---|
| X | g.154965993del | CA645605365 | F8 | c.1423del (p.Glu475LysfsTer7) c.*1299del (n.*1299del) n.243del c.1318del (p.Glu440LysfsTer7) | COSMIC COSMIC |
| X | g.154965993C>A | CA414914394 | F8 | c.1420G>T (p.Gly474Trp) c.*1296G>T (n.*1296G>T) n.240G>T c.1315G>T (p.Gly439Trp) | |
| X | g.154965993C= | CA2466847923 | F8 | c.1420G= (p.Gly474=) c.*1296G= (n.*1296G=) n.240G= c.1315G= (p.Gly439=) | |
| X | g.154965993C>G | CA414914392 | F8 | c.1420G>C (p.Gly474Arg) c.*1296G>C (n.*1296G>C) n.240G>C c.1315G>C (p.Gly439Arg) | |
| X | g.154965993C>T | CA414914390 | F8 | c.1420G>A (p.Gly474Arg) c.*1296G>A (n.*1296G>A) n.240G>A c.1315G>A (p.Gly439Arg) | dbSNP COSMIC COSMIC |
| X | g.154965994A= | CA2466847924 | F8 | c.1419T= (p.Tyr473=) c.*1295T= (n.*1295T=) n.239T= c.1314T= (p.Tyr438=) | |
| X | g.154965994A>C | CA414914398 | F8 | c.1419T>G (p.Tyr473Ter) c.*1295T>G (n.*1295T>G) n.239T>G c.1314T>G (p.Tyr438Ter) | |
| X | g.154965994A>G | CA519363299 | F8 | c.1419T>C (p.Tyr473=) c.*1295T>C (n.*1295T>C) n.239T>C c.1314T>C (p.Tyr438=) | |
| X | g.154965994A>T | CA414914396 | F8 | c.1419T>A (p.Tyr473Ter) c.*1295T>A (n.*1295T>A) n.239T>A c.1314T>A (p.Tyr438Ter) | dbSNP |
| X | g.154965994_154965999delinsATAAAG | CA2466847925 | F8 | c.1414_1419delinsCTTTAT (p.Leu472=) c.*1290_*1295delinsCTTTAT (n.*1290_*1295delinsCTTTAT) n.234_239delinsCTTTAT c.1309_1314delinsCTTTAT (p.Leu437=) | |
| X | g.154965995T>A | CA414914401 | F8 | c.1418A>T (p.Tyr473Phe) c.*1294A>T (n.*1294A>T) n.238A>T c.1313A>T (p.Tyr438Phe) | |
| X | g.154965995T>C | CA255106 | F8 | c.1418A>G (p.Tyr473Cys) c.*1294A>G (n.*1294A>G) n.238A>G c.1313A>G (p.Tyr438Cys) | ClinVar dbSNP |
| X | g.154965995T>G | CA414914403 | F8 | c.1418A>C (p.Tyr473Ser) c.*1294A>C (n.*1294A>C) n.238A>C c.1313A>C (p.Tyr438Ser) | |
| X | g.154965995T= | CA2466847927 | F8 | c.1418A= (p.Tyr473=) c.*1294A= (n.*1294A=) n.238A= c.1313A= (p.Tyr438=) | |
| X | g.154966000_154966004del | CA2466847926 | F8 | c.1414_1418del (p.Leu472TrpfsTer12) c.*1290_*1294del (n.*1290_*1294del) n.234_238del c.1309_1313del (p.Leu437TrpfsTer12) | dbSNP |
| X | g.154965996A= | CA2466847928 | F8 | c.1417T= (p.Tyr473=) c.*1293T= (n.*1293T=) n.237T= c.1312T= (p.Tyr438=) | |
| X | g.154965996A>C | CA414914407 | F8 | c.1417T>G (p.Tyr473Asp) c.*1293T>G (n.*1293T>G) n.237T>G c.1312T>G (p.Tyr438Asp) | |
| X | g.154965996A>G | CA255104 | F8 | c.1417T>C (p.Tyr473His) c.*1293T>C (n.*1293T>C) n.237T>C c.1312T>C (p.Tyr438His) | ClinVar dbSNP |
| X | g.154965996A>T | CA414914410 | F8 | c.1417T>A (p.Tyr473Asn) c.*1293T>A (n.*1293T>A) n.237T>A c.1312T>A (p.Tyr438Asn) | |
| X | g.154965997A>C | CA519363318 | F8 | c.1416T>G (p.Leu472=) c.*1292T>G (n.*1292T>G) n.236T>G c.1311T>G (p.Leu437=) | |
| X | g.154965997A>G | CA519363316 | F8 | c.1416T>C (p.Leu472=) c.*1292T>C (n.*1292T>C) n.236T>C c.1311T>C (p.Leu437=) | |
| X | g.154965997A>T | CA519363315 | F8 | c.1416T>A (p.Leu472=) c.*1292T>A (n.*1292T>A) n.236T>A c.1311T>A (p.Leu437=) | |
| X | g.154965998A>C | CA414914413 | F8 | c.1415T>G (p.Leu472Arg) c.*1291T>G (n.*1291T>G) n.235T>G c.1310T>G (p.Leu437Arg) | |
| X | g.154965998A>G | CA414914414 | F8 | c.1415T>C (p.Leu472Pro) c.*1291T>C (n.*1291T>C) n.235T>C c.1310T>C (p.Leu437Pro) | |
| X | g.154965998A>T | CA414914415 | F8 | c.1415T>A (p.Leu472His) c.*1291T>A (n.*1291T>A) n.235T>A c.1310T>A (p.Leu437His) | |
| X | g.154965998_154965999delinsAG | CA2466847929 | F8 | c.1414_1415delinsCT (p.Leu472=) c.*1290_*1291delinsCT (n.*1290_*1291delinsCT) n.234_235delinsCT c.1309_1310delinsCT (p.Leu437=) | |
| X | g.154965999del | CA645292826 | F8 | c.1414del (p.Leu472PhefsTer10) c.*1290del (n.*1290del) n.234del c.1309del (p.Leu437PhefsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154965999G>A | CA414914416 | F8 | c.1414C>T (p.Leu472Phe) c.*1290C>T (n.*1290C>T) n.234C>T c.1309C>T (p.Leu437Phe) | |
| X | g.154965999G>C | CA414914417 | F8 | c.1414C>G (p.Leu472Val) c.*1290C>G (n.*1290C>G) n.234C>G c.1309C>G (p.Leu437Val) | |
| X | g.154965999G>T | CA414914419 | F8 | c.1414C>A (p.Leu472Ile) c.*1290C>A (n.*1290C>A) n.234C>A c.1309C>A (p.Leu437Ile) | |
| X | g.154965999dup | CA2695237287 | F8 | c.1414dup (p.Leu472ProfsTer14) c.*1290dup (n.*1290dup) n.234dup c.1309dup (p.Leu437ProfsTer14) | |
| X | g.154966000T>A | CA414914421 | F8 | c.1413A>T (p.Leu471Phe) c.*1289A>T (n.*1289A>T) n.233A>T c.1308A>T (p.Leu436Phe) | |
| X | g.154966000T>C | CA519363333 | F8 | c.1413A>G (p.Leu471=) c.*1289A>G (n.*1289A>G) n.233A>G c.1308A>G (p.Leu436=) | |
| X | g.154966000T>G | CA414914423 | F8 | c.1413A>C (p.Leu471Phe) c.*1289A>C (n.*1289A>C) n.233A>C c.1308A>C (p.Leu436Phe) | |
| X | g.154966001A>C | CA414914425 | F8 | c.1412T>G (p.Leu471Ter) c.*1288T>G (n.*1288T>G) n.232T>G c.1307T>G (p.Leu436Ter) | |
| X | g.154966001A>G | CA414914427 | F8 | c.1412T>C (p.Leu471Ser) c.*1288T>C (n.*1288T>C) n.232T>C c.1307T>C (p.Leu436Ser) | |
| X | g.154966001A>T | CA414914429 | F8 | c.1412T>A (p.Leu471Ter) c.*1288T>A (n.*1288T>A) n.232T>A c.1307T>A (p.Leu436Ter) | |
| X | g.154966002A>C | CA414914432 | F8 | c.1411T>G (p.Leu471Val) c.*1287T>G (n.*1287T>G) n.231T>G c.1306T>G (p.Leu436Val) | |
| X | g.154966002A>G | CA519363343 | F8 | c.1411T>C (p.Leu471=) c.*1287T>C (n.*1287T>C) n.231T>C c.1306T>C (p.Leu436=) | |
| X | g.154966002A>T | CA414914435 | F8 | c.1411T>A (p.Leu471Ile) c.*1287T>A (n.*1287T>A) n.231T>A c.1306T>A (p.Leu436Ile) | |
| X | g.154966002_154966006del | CA2695237288 | F8 | c.1407_1411del (p.Pro470ThrfsTer14) c.*1283_*1287del (n.*1283_*1287del) n.227_231del c.1302_1306del (p.Pro435ThrfsTer14) | |
| X | g.154966003A>C | CA519363346 | F8 | c.1410T>G (p.Pro470=) c.*1286T>G (n.*1286T>G) n.230T>G c.1305T>G (p.Pro435=) | |
| X | g.154966003A>G | CA519363347 | F8 | c.1410T>C (p.Pro470=) c.*1286T>C (n.*1286T>C) n.230T>C c.1305T>C (p.Pro435=) | |
| X | g.154966003A>T | CA519363348 | F8 | c.1410T>A (p.Pro470=) c.*1286T>A (n.*1286T>A) n.230T>A c.1305T>A (p.Pro435=) | |
| X | g.154966004G>A | CA414914438 | F8 | c.1409C>T (p.Pro470Leu) c.*1285C>T (n.*1285C>T) n.229C>T c.1304C>T (p.Pro435Leu) | dbSNP |
| X | g.154966004G>C | CA414914440 | F8 | c.1409C>G (p.Pro470Arg) c.*1285C>G (n.*1285C>G) n.229C>G c.1304C>G (p.Pro435Arg) | dbSNP |
| X | g.154966004G= | CA2466847930 | F8 | c.1409C= (p.Pro470=) c.*1285C= (n.*1285C=) n.229C= c.1304C= (p.Pro435=) | |
| X | g.154966004G>T | CA414914442 | F8 | c.1409C>A (p.Pro470His) c.*1285C>A (n.*1285C>A) n.229C>A c.1304C>A (p.Pro435His) | |
| X | g.154966005del | CA2695237290 | F8 | c.1409del (p.Pro470LeufsTer12) c.*1285del (n.*1285del) n.229del c.1304del (p.Pro435LeufsTer12) | |
| X | g.154966005G>A | CA414914445 | F8 | c.1408C>T (p.Pro470Ser) c.*1284C>T (n.*1284C>T) n.228C>T c.1303C>T (p.Pro435Ser) | dbSNP |