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 |
|---|---|---|---|---|---|
| 1 | g.54609382_54609389del | CA523274614 | ACOT11,FAM151A | c.1639_1646del (p.Asp547LeufsTer10) c.*270_*277del (n.*270_*277del) c.1078_1085del (p.Asp360LeufsTer10) c.1629+1314_1629+1321del (n.1629+1314_1629+1321del) n.2133_2140del c.1561_1568del (p.Asp521LeufsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609382_54609441delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG | CA1167798456 | ACOT11,FAM151A | c.1585_1644delinsCTGGCATCCTCCCCCCGGGCCACCGTCACAGTGGAGCACAACCCAGCTGGGGGCGACTAT (p.Leu529=) c.*270_*329delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG (n.*270_*329delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG) c.1024_1083delinsCTGGCATCCTCCCCCCGGGCCACCGTCACAGTGGAGCACAACCCAGCTGGGGGCGACTAT (p.Leu342=) c.1629+1314_1629+1373delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG (n.1629+1314_1629+1373delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG) n.2133_2192delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG c.1507_1566delinsCTGGCATCCTCCCCCCGGGCCACCGTCACAGTGGAGCACAACCCAGCTGGGGGCGACTAT (p.Leu503=) | |
| 1 | g.54609383_54609441del | CA866850 | ACOT11,FAM151A | c.1585_1643del (p.Leu529CysfsTer11) c.*271_*329del (n.*271_*329del) c.1024_1082del (p.Leu342CysfsTer11) c.1629+1315_1629+1373del (n.1629+1315_1629+1373del) n.2134_2192del c.1507_1565del (p.Leu503CysfsTer11) | dbSNP ExAC gnomAD v2 |
| 1 | g.54609387_54609400dup | CA523274615 | ACOT11,FAM151A | c.1626_1639dup (p.Asp547AlafsTer10) c.*275_*288dup (n.*275_*288dup) c.1065_1078dup (p.Asp360AlafsTer10) c.1629+1319_1629+1332dup (n.1629+1319_1629+1332dup) n.2138_2151dup c.1548_1561dup (p.Asp521AlafsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609388_54609389delinsGC | CA1167798459 | ACOT11,FAM151A | c.1637_1638delinsGC (p.Gly546=) c.*276_*277delinsGC (n.*276_*277delinsGC) c.1076_1077delinsGC (p.Gly359=) c.1629+1320_1629+1321delinsGC (n.1629+1320_1629+1321delinsGC) n.2139_2140delinsGC c.1559_1560delinsGC (p.Gly520=) | |
| 1 | g.54609389C>A | CA340441247 | ACOT11,FAM151A | c.1637G>T (p.Gly546Val) c.*277C>A (n.*277C>A) c.1076G>T (p.Gly359Val) c.1629+1321C>A (n.1629+1321C>A) n.2140C>A c.1559G>T (p.Gly520Val) | dbSNP |
| 1 | g.54609389C= | CA1139926633 | ACOT11,FAM151A | c.1637G= (p.Gly546=) c.*277C= (n.*277C=) c.1076G= (p.Gly359=) c.1629+1321C= (n.1629+1321C=) n.2140C= c.1559G= (p.Gly520=) | |
| 1 | g.54609389C>G | CA340441249 | ACOT11,FAM151A | c.1637G>C (p.Gly546Ala) c.*277C>G (n.*277C>G) c.1076G>C (p.Gly359Ala) c.1629+1321C>G (n.1629+1321C>G) n.2140C>G c.1559G>C (p.Gly520Ala) | |
| 1 | g.54609389C>T | CA866857 | ACOT11,FAM151A | c.1637G>A (p.Gly546Asp) c.*277C>T (n.*277C>T) c.1076G>A (p.Gly359Asp) c.1629+1321C>T (n.1629+1321C>T) n.2140C>T c.1559G>A (p.Gly520Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609393dup | CA2743674401 | ACOT11,FAM151A | c.1637dup (p.Asp547ArgfsTer13) c.*281dup (n.*281dup) c.1076dup (p.Asp360ArgfsTer13) c.1629+1325dup (n.1629+1325dup) n.2144dup c.1559dup (p.Asp521ArgfsTer13) | |
| 1 | g.54609393del | CA866856 | ACOT11,FAM151A | c.1637del (p.Gly546AlafsTer6) c.*281del (n.*281del) c.1076del (p.Gly359AlafsTer6) c.1629+1325del (n.1629+1325del) n.2144del c.1559del (p.Gly520AlafsTer6) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609390C>A | CA340441255 | ACOT11,FAM151A | c.1636G>T (p.Gly546Cys) c.*278C>A (n.*278C>A) c.1075G>T (p.Gly359Cys) c.1629+1322C>A (n.1629+1322C>A) n.2141C>A c.1558G>T (p.Gly520Cys) | |
| 1 | g.54609390C>G | CA340441257 | ACOT11,FAM151A | c.1636G>C (p.Gly546Arg) c.*278C>G (n.*278C>G) c.1075G>C (p.Gly359Arg) c.1629+1322C>G (n.1629+1322C>G) n.2141C>G c.1558G>C (p.Gly520Arg) | |
| 1 | g.54609390C>T | CA340441260 | ACOT11,FAM151A | c.1636G>A (p.Gly546Ser) c.*278C>T (n.*278C>T) c.1075G>A (p.Gly359Ser) c.1629+1322C>T (n.1629+1322C>T) n.2141C>T c.1558G>A (p.Gly520Ser) | |
| 1 | g.54609391C>A | CA418177293 | ACOT11,FAM151A | c.1635G>T (p.Gly545=) c.*279C>A (n.*279C>A) c.1074G>T (p.Gly358=) c.1629+1323C>A (n.1629+1323C>A) n.2142C>A c.1557G>T (p.Gly519=) | |
| 1 | g.54609391C= | CA1167798460 | ACOT11,FAM151A | c.1635G= (p.Gly545=) c.*279C= (n.*279C=) c.1074G= (p.Gly358=) c.1629+1323C= (n.1629+1323C=) n.2142C= c.1557G= (p.Gly519=) | |
| 1 | g.54609391C>G | CA418177294 | ACOT11,FAM151A | c.1635G>C (p.Gly545=) c.*279C>G (n.*279C>G) c.1074G>C (p.Gly358=) c.1629+1323C>G (n.1629+1323C>G) n.2142C>G c.1557G>C (p.Gly519=) | |
| 1 | g.54609391C>T | CA418177295 | ACOT11,FAM151A | c.1635G>A (p.Gly545=) c.*279C>T (n.*279C>T) c.1074G>A (p.Gly358=) c.1629+1323C>T (n.1629+1323C>T) n.2142C>T c.1557G>A (p.Gly519=) | dbSNP gnomAD v4 |
| 1 | g.54609392C>A | CA340441262 | ACOT11,FAM151A | c.1634G>T (p.Gly545Val) c.*280C>A (n.*280C>A) c.1073G>T (p.Gly358Val) c.1629+1324C>A (n.1629+1324C>A) n.2143C>A c.1556G>T (p.Gly519Val) | |
| 1 | g.54609392C>G | CA340441265 | ACOT11,FAM151A | c.1634G>C (p.Gly545Ala) c.*280C>G (n.*280C>G) c.1073G>C (p.Gly358Ala) c.1629+1324C>G (n.1629+1324C>G) n.2143C>G c.1556G>C (p.Gly519Ala) | |
| 1 | g.54609392C>T | CA340441267 | ACOT11,FAM151A | c.1634G>A (p.Gly545Glu) c.*280C>T (n.*280C>T) c.1073G>A (p.Gly358Glu) c.1629+1324C>T (n.1629+1324C>T) n.2143C>T c.1556G>A (p.Gly519Glu) | |
| 1 | g.54609393C>A | CA340441273 | ACOT11,FAM151A | c.1633G>T (p.Gly545Trp) c.*281C>A (n.*281C>A) c.1072G>T (p.Gly358Trp) c.1629+1325C>A (n.1629+1325C>A) n.2144C>A c.1555G>T (p.Gly519Trp) | |
| 1 | g.54609393C>G | CA340441272 | ACOT11,FAM151A | c.1633G>C (p.Gly545Arg) c.*281C>G (n.*281C>G) c.1072G>C (p.Gly358Arg) c.1629+1325C>G (n.1629+1325C>G) n.2144C>G c.1555G>C (p.Gly519Arg) | |
| 1 | g.54609393C>T | CA340441270 | ACOT11,FAM151A | c.1633G>A (p.Gly545Arg) c.*281C>T (n.*281C>T) c.1072G>A (p.Gly358Arg) c.1629+1325C>T (n.1629+1325C>T) n.2144C>T c.1555G>A (p.Gly519Arg) | |
| 1 | g.54609394A= | CA1167798461 | ACOT11,FAM151A | c.1632T= (p.Ala544=) c.*282A= (n.*282A=) c.1071T= (p.Ala357=) c.1629+1326A= (n.1629+1326A=) n.2145A= c.1554T= (p.Ala518=) | |
| 1 | g.54609394A>C | CA418177296 | ACOT11,FAM151A | c.1632T>G (p.Ala544=) c.*282A>C (n.*282A>C) c.1071T>G (p.Ala357=) c.1629+1326A>C (n.1629+1326A>C) n.2145A>C c.1554T>G (p.Ala518=) | gnomAD v4 |
| 1 | g.54609394A>G | CA418177297 | ACOT11,FAM151A | c.1632T>C (p.Ala544=) c.*282A>G (n.*282A>G) c.1071T>C (p.Ala357=) c.1629+1326A>G (n.1629+1326A>G) n.2145A>G c.1554T>C (p.Ala518=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609394A>T | CA418177298 | ACOT11,FAM151A | c.1632T>A (p.Ala544=) c.*282A>T (n.*282A>T) c.1071T>A (p.Ala357=) c.1629+1326A>T (n.1629+1326A>T) n.2145A>T c.1554T>A (p.Ala518=) | gnomAD v4 |
| 1 | g.54609395G>A | CA340441279 | ACOT11,FAM151A | c.1631C>T (p.Ala544Val) c.*283G>A (n.*283G>A) c.1070C>T (p.Ala357Val) c.1629+1327G>A (n.1629+1327G>A) n.2146G>A c.1553C>T (p.Ala518Val) | gnomAD v4 |
| 1 | g.54609395G>C | CA340441276 | ACOT11,FAM151A | c.1631C>G (p.Ala544Gly) c.*283G>C (n.*283G>C) c.1070C>G (p.Ala357Gly) c.1629+1327G>C (n.1629+1327G>C) n.2146G>C c.1553C>G (p.Ala518Gly) | |
| 1 | g.54609395G>T | CA340441282 | ACOT11,FAM151A | c.1631C>A (p.Ala544Asp) c.*283G>T (n.*283G>T) c.1070C>A (p.Ala357Asp) c.1629+1327G>T (n.1629+1327G>T) n.2146G>T c.1553C>A (p.Ala518Asp) | |
| 1 | g.54609396C>A | CA340441284 | ACOT11,FAM151A | c.1630G>T (p.Ala544Ser) c.*284C>A (n.*284C>A) c.1069G>T (p.Ala357Ser) c.1629+1328C>A (n.1629+1328C>A) n.2147C>A c.1552G>T (p.Ala518Ser) | |
| 1 | g.54609396C>G | CA340441290 | ACOT11,FAM151A | c.1630G>C (p.Ala544Pro) c.*284C>G (n.*284C>G) c.1069G>C (p.Ala357Pro) c.1629+1328C>G (n.1629+1328C>G) n.2147C>G c.1552G>C (p.Ala518Pro) | |
| 1 | g.54609396C>T | CA340441287 | ACOT11,FAM151A | c.1630G>A (p.Ala544Thr) c.*284C>T (n.*284C>T) c.1069G>A (p.Ala357Thr) c.1629+1328C>T (n.1629+1328C>T) n.2147C>T c.1552G>A (p.Ala518Thr) | gnomAD v4 |
| 1 | g.54609396dup | CA2645794467 | ACOT11,FAM151A | c.1630dup (p.Ala544GlyfsTer16) c.*284dup (n.*284dup) c.1069dup (p.Ala357GlyfsTer16) c.1629+1328dup (n.1629+1328dup) n.2147dup c.1552dup (p.Ala518GlyfsTer16) | gnomAD v4 |
| 1 | g.54609397T>A | CA418177299 | ACOT11,FAM151A | c.1629A>T (p.Pro543=) c.*285T>A (n.*285T>A) c.1068A>T (p.Pro356=) c.1629+1329T>A (n.1629+1329T>A) n.2148T>A c.1551A>T (p.Pro517=) | |
| 1 | g.54609397T>C | CA418177300 | ACOT11,FAM151A | c.1629A>G (p.Pro543=) c.*285T>C (n.*285T>C) c.1068A>G (p.Pro356=) c.1629+1329T>C (n.1629+1329T>C) n.2148T>C c.1551A>G (p.Pro517=) | |
| 1 | g.54609397T>G | CA418177301 | ACOT11,FAM151A | c.1629A>C (p.Pro543=) c.*285T>G (n.*285T>G) c.1068A>C (p.Pro356=) c.1629+1329T>G (n.1629+1329T>G) n.2148T>G c.1551A>C (p.Pro517=) | |
| 1 | g.54609397_54609398insCACAGA | CA2645794469 | ACOT11,FAM151A | c.1628_1629insTCTGTG (p.Pro544LeufsTer2) c.*285_*286insCACAGA (n.*285_*286insCACAGA) c.1067_1068insTCTGTG (p.Pro357LeufsTer2) c.1629+1329_1629+1330insCACAGA (n.1629+1329_1629+1330insCACAGA) n.2148_2149insCACAGA c.1550_1551insTCTGTG (p.Pro518LeufsTer2) | gnomAD v4 |
| 1 | g.54609398G>A | CA340441293 | ACOT11,FAM151A | c.1628C>T (p.Pro543Leu) c.*286G>A (n.*286G>A) c.1067C>T (p.Pro356Leu) c.1629+1330G>A (n.1629+1330G>A) n.2149G>A c.1550C>T (p.Pro517Leu) | |
| 1 | g.54609398G>C | CA340441295 | ACOT11,FAM151A | c.1628C>G (p.Pro543Arg) c.*286G>C (n.*286G>C) c.1067C>G (p.Pro356Arg) c.1629+1330G>C (n.1629+1330G>C) n.2149G>C c.1550C>G (p.Pro517Arg) | |
| 1 | g.54609398G= | CA1167798462 | ACOT11,FAM151A | c.1628C= (p.Pro543=) c.*286G= (n.*286G=) c.1067C= (p.Pro356=) c.1629+1330G= (n.1629+1330G=) n.2149G= c.1550C= (p.Pro517=) | |
| 1 | g.54609398G>T | CA340441298 | ACOT11,FAM151A | c.1628C>A (p.Pro543Gln) c.*286G>T (n.*286G>T) c.1067C>A (p.Pro356Gln) c.1629+1330G>T (n.1629+1330G>T) n.2149G>T c.1550C>A (p.Pro517Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609399G>A | CA340441301 | ACOT11,FAM151A | c.1627C>T (p.Pro543Ser) c.*287G>A (n.*287G>A) c.1066C>T (p.Pro356Ser) c.1629+1331G>A (n.1629+1331G>A) n.2150G>A c.1549C>T (p.Pro517Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609399G>C | CA340441304 | ACOT11,FAM151A | c.1627C>G (p.Pro543Ala) c.*287G>C (n.*287G>C) c.1066C>G (p.Pro356Ala) c.1629+1331G>C (n.1629+1331G>C) n.2150G>C c.1549C>G (p.Pro517Ala) | |
| 1 | g.54609399G= | CA1167798463 | ACOT11,FAM151A | c.1627C= (p.Pro543=) c.*287G= (n.*287G=) c.1066C= (p.Pro356=) c.1629+1331G= (n.1629+1331G=) n.2150G= c.1549C= (p.Pro517=) | |
| 1 | g.54609399G>T | CA340441306 | ACOT11,FAM151A | c.1627C>A (p.Pro543Thr) c.*287G>T (n.*287G>T) c.1066C>A (p.Pro356Thr) c.1629+1331G>T (n.1629+1331G>T) n.2150G>T c.1549C>A (p.Pro517Thr) | |
| 1 | g.54609399_54609400insCATA | CA2645794470 | ACOT11,FAM151A | c.1626_1627insTATG (p.Pro543TyrfsTer18) c.*287_*288insCATA (n.*287_*288insCATA) c.1065_1066insTATG (p.Pro356TyrfsTer18) c.1629+1331_1629+1332insCATA (n.1629+1331_1629+1332insCATA) n.2150_2151insCATA c.1548_1549insTATG (p.Pro517TyrfsTer18) | gnomAD v4 |
| 1 | g.54609400G>A | CA418177302 | ACOT11,FAM151A | c.1626C>T (p.Asn542=) c.*288G>A (n.*288G>A) c.1065C>T (p.Asn355=) c.1629+1332G>A (n.1629+1332G>A) n.2151G>A c.1548C>T (p.Asn516=) | |
| 1 | g.54609400G>C | CA340441310 | ACOT11,FAM151A | c.1626C>G (p.Asn542Lys) c.*288G>C (n.*288G>C) c.1065C>G (p.Asn355Lys) c.1629+1332G>C (n.1629+1332G>C) n.2151G>C c.1548C>G (p.Asn516Lys) |