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.74531404_74531412delinsGCTGTAATC | CA2437510049 | SLC16A2 | c.1471_1479delinsGCTGTAATC (p.Ala491=) c.1380_1388delinsGCTGTAATC c.682_690delinsGCTGTAATC c.1242_*2delinsGCTGTAATC (n.[c.1242_*2delinsGCTGTAATC;Gly414=]) | |
| X | g.74531407_74531414del | CA277225 | SLC16A2 | c.1474_1481del (p.Val492LeufsTer22) c.1383_1390del c.685_692del c.1245_*4del (n.[c.1245_*4del;Ter416PheextTer?]) | ClinVar dbSNP |
| X | g.74531407G>A | CA331284238 | SLC16A2 | c.1474G>A (p.Val492Ile) c.1383G>A c.685G>A c.1245G>A (p.Leu415=) | dbSNP gnomAD v4 |
| X | g.74531407G>C | CA413658987 | SLC16A2 | c.1474G>C (p.Val492Leu) c.1383G>C c.685G>C c.1245G>C (p.Leu415=) | |
| X | g.74531407G= | CA2437510050 | SLC16A2 | c.1474G= (p.Val492=) c.1383G= c.685G= c.1245G= (p.Leu415=) | |
| X | g.74531407G>T | CA413658989 | SLC16A2 | c.1474G>T (p.Val492Leu) c.1383G>T c.685G>T c.1245G>T (p.Leu415=) | |
| X | g.74531408T>A | CA413658990 | SLC16A2 | c.1475T>A (p.Val492Glu) c.1384T>A c.686T>A c.1246T>A (p.Ter416Lys) | |
| X | g.74531408T>C | CA413658991 | SLC16A2 | c.1475T>C (p.Val492Ala) c.1384T>C c.686T>C c.1246T>C (p.Ter416Gln) | |
| X | g.74531408T>G | CA413658992 | SLC16A2 | c.1475T>G (p.Val492Gly) c.1384T>G c.686T>G c.1246T>G (p.Ter416Glu) | |
| X | g.74531409A>C | CA517244364 | SLC16A2 | c.1476A>C (p.Val492=) c.1385A>C c.687A>C c.1247A>C (p.Ter416Ser) | |
| X | g.74531409A>G | CA517244366 | SLC16A2 | c.1476A>G (p.Val492=) c.1385A>G c.687A>G c.1247A>G (p.Ter416=) | |
| X | g.74531409A>T | CA517244367 | SLC16A2 | c.1476A>T (p.Val492=) c.1385A>T c.687A>T c.1247A>T (p.Ter416Leu) | |
| X | g.74531410A>C | CA413658993 | SLC16A2 | c.1477A>C (p.Ile493Leu) c.1386A>C c.688A>C c.1248A>C (p.Ter416Tyr) | |
| X | g.74531410A>G | CA413658994 | SLC16A2 | c.1477A>G (p.Ile493Val) c.1386A>G c.688A>G c.1248A>G (p.Ter416=) | |
| X | g.74531410A>T | CA413658995 | SLC16A2 | c.1477A>T (p.Ile493Phe) c.1386A>T c.688A>T c.1248A>T (p.Ter416Tyr) | |
| X | g.74531411T>A | CA413658996 | SLC16A2 | c.1478T>A (p.Ile493Asn) c.1387T>A c.689T>A c.*1T>A (n.*1T>A) | |
| X | g.74531411T>C | CA413658998 | SLC16A2 | c.1478T>C (p.Ile493Thr) c.1387T>C c.689T>C c.*1T>C (n.*1T>C) | |
| X | g.74531411T>G | CA413658997 | SLC16A2 | c.1478T>G (p.Ile493Ser) c.1387T>G c.689T>G c.*1T>G (n.*1T>G) | gnomAD v4 |
| X | g.74531412C>A | CA517244374 | SLC16A2 | c.1479C>A (p.Ile493=) c.1388C>A c.690C>A c.*2C>A (n.*2C>A) | |
| X | g.74531412C>G | CA413658999 | SLC16A2 | c.1479C>G (p.Ile493Met) c.1388C>G c.690C>G c.*2C>G (n.*2C>G) | |
| X | g.74531412C>T | CA517244376 | SLC16A2 | c.1479C>T (p.Ile493=) c.1388C>T c.690C>T c.*2C>T (n.*2C>T) | |
| X | g.74531413C>A | CA413659000 | SLC16A2 | c.1480C>A (p.Leu494Ile) c.1389C>A c.691C>A c.*3C>A (n.*3C>A) | |
| X | g.74531413C>G | CA413659001 | SLC16A2 | c.1480C>G (p.Leu494Val) c.1389C>G c.691C>G c.*3C>G (n.*3C>G) | |
| X | g.74531413C>T | CA413659002 | SLC16A2 | c.1480C>T (p.Leu494Phe) c.1389C>T c.691C>T c.*3C>T (n.*3C>T) | gnomAD v4 |
| X | g.74531414T>A | CA413659003 | SLC16A2 | c.1481T>A (p.Leu494His) c.1390T>A c.692T>A c.*4T>A (n.*4T>A) | |
| X | g.74531414T>C | CA341126 | SLC16A2 | c.1481T>C (p.Leu494Pro) c.1390T>C c.692T>C c.*4T>C (n.*4T>C) | ClinVar dbSNP |
| X | g.74531414T>G | CA413659004 | SLC16A2 | c.1481T>G (p.Leu494Arg) c.1390T>G c.692T>G c.*4T>G (n.*4T>G) | ClinVar dbSNP |
| X | g.74531414T= | CA2437510051 | SLC16A2 | c.1481T= (p.Leu494=) c.1390T= c.692T= c.*4T= (n.*4T=) | |
| X | g.74531415C>A | CA517244386 | SLC16A2 | c.1482C>A (p.Leu494=) c.1391C>A c.693C>A c.*5C>A (n.*5C>A) | |
| X | g.74531415C= | CA2437510052 | SLC16A2 | c.1482C= (p.Leu494=) c.1391C= c.693C= c.*5C= (n.*5C=) | |
| X | g.74531415C>G | CA331284239 | SLC16A2 | c.1482C>G (p.Leu494=) c.1391C>G c.693C>G c.*5C>G (n.*5C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74531415C>T | CA517244383 | SLC16A2 | c.1482C>T (p.Leu494=) c.1391C>T c.693C>T c.*5C>T (n.*5C>T) | |
| X | g.74531416T>A | CA413659005 | SLC16A2 | c.1483T>A (p.Phe495Ile) c.1392T>A c.694T>A c.*6T>A (n.*6T>A) | |
| X | g.74531416T>C | CA413659006 | SLC16A2 | c.1483T>C (p.Phe495Leu) c.1392T>C c.694T>C c.*6T>C (n.*6T>C) | |
| X | g.74531416T>G | CA413659007 | SLC16A2 | c.1483T>G (p.Phe495Val) c.1392T>G c.694T>G c.*6T>G (n.*6T>G) | COSMIC |
| X | g.74531417T>A | CA413659008 | SLC16A2 | c.1484T>A (p.Phe495Tyr) c.1393T>A c.695T>A c.*7T>A (n.*7T>A) | |
| X | g.74531417T>C | CA413659009 | SLC16A2 | c.1484T>C (p.Phe495Ser) c.1393T>C c.695T>C c.*7T>C (n.*7T>C) | |
| X | g.74531417T>G | CA413659010 | SLC16A2 | c.1484T>G (p.Phe495Cys) c.1393T>G c.695T>G c.*7T>G (n.*7T>G) | |
| X | g.74531418C>A | CA413659012 | SLC16A2 | c.1485C>A (p.Phe495Leu) c.1394C>A c.696C>A c.*8C>A (n.*8C>A) | |
| X | g.74531418C>G | CA413659013 | SLC16A2 | c.1485C>G (p.Phe495Leu) c.1394C>G c.696C>G c.*8C>G (n.*8C>G) | |
| X | g.74531418C>T | CA517244394 | SLC16A2 | c.1485C>T (p.Phe495=) c.1394C>T c.696C>T c.*8C>T (n.*8C>T) | |
| X | g.74531419T>A | CA413659015 | SLC16A2 | c.1486T>A (p.Phe496Ile) c.1395T>A c.697T>A c.*9T>A (n.*9T>A) | |
| X | g.74531419T>C | CA413659017 | SLC16A2 | c.1486T>C (p.Phe496Leu) c.1395T>C c.697T>C c.*9T>C (n.*9T>C) | ClinVar dbSNP |
| X | g.74531419T>G | CA413659019 | SLC16A2 | c.1486T>G (p.Phe496Val) c.1395T>G c.697T>G c.*9T>G (n.*9T>G) | |
| X | g.74531419T= | CA2437510053 | SLC16A2 | c.1486T= (p.Phe496=) c.1395T= c.697T= c.*9T= (n.*9T=) | |
| X | g.74531420T>A | CA413659025 | SLC16A2 | c.1487T>A (p.Phe496Tyr) c.1396T>A c.698T>A c.*10T>A (n.*10T>A) | |
| X | g.74531420T>C | CA413659023 | SLC16A2 | c.1487T>C (p.Phe496Ser) c.1396T>C c.698T>C c.*10T>C (n.*10T>C) | |
| X | g.74531420T>G | CA413659022 | SLC16A2 | c.1487T>G (p.Phe496Cys) c.1396T>G c.698T>G c.*10T>G (n.*10T>G) | |
| X | g.74531421C>A | CA413659028 | SLC16A2 | c.1488C>A (p.Phe496Leu) c.1397C>A c.699C>A c.*11C>A (n.*11C>A) | |
| X | g.74531421C= | CA2437510054 | SLC16A2 | c.1488C= (p.Phe496=) c.1397C= c.699C= c.*11C= (n.*11C=) |