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 |
|---|---|---|---|---|---|
| 9 | g.95101693G>A | CA5137279 | AOPEP,FANCC | n.410+20913G>A n.2506C>T c.*14C>T (n.*14C>T) c.2319+20913G>A (n.2319+20913G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101693G= | CA1865459490 | AOPEP,FANCC | n.410+20913G= n.2506C= c.*14C= (n.*14C=) c.2319+20913G= (n.2319+20913G=) | |
| 9 | g.95101693_95101694insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC | CA2785167011 | AOPEP,FANCC | n.410+20913_410+20914insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC n.2505_2506insGAGCTTGACGGAATCCGCGTTGAACTCGCGGAACGTAATGCAGTCGATGTTGACGGGCGCGTACTTCTCGTACTTGTCGATCGGGAAGGAAAT c.*13_*14insGAGCTTGACGGAATCCGCGTTGAACTCGCGGAACGTAATGCAGTCGATGTTGACGGGCGCGTACTTCTCGTACTTGTCGATCGGGAAGGAAAT (n.*13_*14insGAGCTTGACGGAATCCGCGTTGAACTCGCGGAACGTAATGCAGTCGATGTTGACGGGCGCGTACTTCTCGTACTTGTCGATCGGGAAGGAAAT) c.2319+20913_2319+20914insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC (n.2319+20913_2319+20914insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC) | |
| 9 | g.95101694G>A | CA2579388334 | AOPEP,FANCC | n.410+20914G>A n.2505C>T c.*13C>T (n.*13C>T) c.2319+20914G>A (n.2319+20914G>A) | dbSNP gnomAD v4 |
| 9 | g.95101695C= | CA1865459491 | AOPEP,FANCC | n.410+20915C= n.2504G= c.*12G= (n.*12G=) c.2319+20915C= (n.2319+20915C=) | |
| 9 | g.95101695C>G | CA2690785715 | AOPEP,FANCC | n.410+20915C>G n.2504G>C c.*12G>C (n.*12G>C) c.2319+20915C>G (n.2319+20915C>G) | gnomAD v4 |
| 9 | g.95101695C>T | CA589257958 | AOPEP,FANCC | n.410+20915C>T n.2504G>A c.*12G>A (n.*12G>A) c.2319+20915C>T (n.2319+20915C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101696C>T | CA2690785716 | AOPEP,FANCC | n.410+20916C>T n.2503G>A c.*11G>A (n.*11G>A) c.2319+20916C>T (n.2319+20916C>T) | gnomAD v4 |
| 9 | g.95101698_95101708dup | CA1865459492 | AOPEP,FANCC | n.410+20918_410+20928dup n.2493_2503dup c.*1_*11dup (n.*1_*11dup) c.2319+20918_2319+20928dup (n.2319+20918_2319+20928dup) | dbSNP |
| 9 | g.95101697T>C | CA2720070040 | AOPEP,FANCC | n.410+20917T>C n.2502A>G c.*10A>G (n.*10A>G) c.2319+20917T>C (n.2319+20917T>C) | dbSNP |
| 9 | g.95101697T>G | CA16605894 | AOPEP,FANCC | n.410+20917T>G n.2502A>C c.*10A>C (n.*10A>C) c.2319+20917T>G (n.2319+20917T>G) | ClinVar dbSNP gnomAD v4 |
| 9 | g.95101697T= | CA1865459493 | AOPEP,FANCC | n.410+20917T= n.2502A= c.*10A= (n.*10A=) c.2319+20917T= (n.2319+20917T=) | |
| 9 | g.95101698G>A | CA5137280 | AOPEP,FANCC | n.410+20918G>A n.2501C>T c.*9C>T (n.*9C>T) c.2319+20918G>A (n.2319+20918G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101698G>C | CA2690785717 | AOPEP,FANCC | n.410+20918G>C n.2501C>G c.*9C>G (n.*9C>G) c.2319+20918G>C (n.2319+20918G>C) | gnomAD v4 |
| 9 | g.95101698G= | CA1865459494 | AOPEP,FANCC | n.410+20918G= n.2501C= c.*9C= (n.*9C=) c.2319+20918G= (n.2319+20918G=) | |
| 9 | g.95101699C>A | CA2720055441 | AOPEP,FANCC | n.410+20919C>A n.2500G>T c.*8G>T (n.*8G>T) c.2319+20919C>A (n.2319+20919C>A) | dbSNP |
| 9 | g.95101699C= | CA1865459495 | AOPEP,FANCC | n.410+20919C= n.2500G= c.*8G= (n.*8G=) c.2319+20919C= (n.2319+20919C=) | |
| 9 | g.95101699C>T | CA5137281 | AOPEP,FANCC | n.410+20919C>T n.2500G>A c.*8G>A (n.*8G>A) c.2319+20919C>T (n.2319+20919C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101700G>A | CA5137282 | AOPEP,FANCC | n.410+20920G>A n.2499C>T c.*7C>T (n.*7C>T) c.2319+20920G>A (n.2319+20920G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101700G= | CA1865459496 | AOPEP,FANCC | n.410+20920G= n.2499C= c.*7C= (n.*7C=) c.2319+20920G= (n.2319+20920G=) | |
| 9 | g.95101700G>T | CA2690785718 | AOPEP,FANCC | n.410+20920G>T n.2499C>A c.*7C>A (n.*7C>A) c.2319+20920G>T (n.2319+20920G>T) | gnomAD v4 |
| 9 | g.95101701T>G | CA589257965 | AOPEP,FANCC | n.410+20921T>G n.2498A>C c.*6A>C (n.*6A>C) c.2319+20921T>G (n.2319+20921T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101701T= | CA1865459497 | AOPEP,FANCC | n.410+20921T= n.2498A= c.*6A= (n.*6A=) c.2319+20921T= (n.2319+20921T=) | |
| 9 | g.95101702G>A | CA290835 | AOPEP,FANCC | n.410+20922G>A n.2497C>T c.*5C>T (n.*5C>T) c.2319+20922G>A (n.2319+20922G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101702G= | CA1865459498 | AOPEP,FANCC | n.410+20922G= n.2497C= c.*5C= (n.*5C=) c.2319+20922G= (n.2319+20922G=) | |
| 9 | g.95101702_95101703insA | CA653184133 | AOPEP,FANCC | n.410+20922_410+20923insA n.2496_2497insT c.*4_*5insT (n.*4_*5insT) c.2319+20922_2319+20923insA (n.2319+20922_2319+20923insA) | |
| 9 | g.95101703C= | CA1865459499 | AOPEP,FANCC | n.410+20923C= n.2496G= c.*4G= (n.*4G=) c.2319+20923C= (n.2319+20923C=) | |
| 9 | g.95101703C>G | CA2690785719 | AOPEP,FANCC | n.410+20923C>G n.2496G>C c.*4G>C (n.*4G>C) c.2319+20923C>G (n.2319+20923C>G) | gnomAD v4 |
| 9 | g.95101703C>T | CA589257966 | AOPEP,FANCC | n.410+20923C>T n.2496G>A c.*4G>A (n.*4G>A) c.2319+20923C>T (n.2319+20923C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101704C>T | CA2690785720 | AOPEP,FANCC | n.410+20924C>T n.2495G>A c.*3G>A (n.*3G>A) c.2319+20924C>T (n.2319+20924C>T) | gnomAD v4 |
| 9 | g.95101707C>A | CA374104217 | AOPEP,FANCC | n.410+20927C>A n.2492G>T c.1677G>T (p.Ter559Tyr) c.996G>T (p.Ter332Tyr) c.1512G>T (p.Ter504Tyr) c.1221G>T (p.Ter407Tyr) c.2319+20927C>A (n.2319+20927C>A) c.1056G>T (p.Ter352Tyr) | |
| 9 | g.95101707C>G | CA374104218 | AOPEP,FANCC | n.410+20927C>G n.2492G>C c.1677G>C (p.Ter559Tyr) c.996G>C (p.Ter332Tyr) c.1512G>C (p.Ter504Tyr) c.1221G>C (p.Ter407Tyr) c.2319+20927C>G (n.2319+20927C>G) c.1056G>C (p.Ter352Tyr) | |
| 9 | g.95101707C>T | CA466092031 | AOPEP,FANCC | n.410+20927C>T n.2492G>A c.1677G>A (p.Ter559=) c.996G>A (p.Ter332=) c.1512G>A (p.Ter504=) c.1221G>A (p.Ter407=) c.2319+20927C>T (n.2319+20927C>T) c.1056G>A (p.Ter352=) | |
| 9 | g.95101708T>A | CA374104219 | AOPEP,FANCC | n.410+20928T>A n.2491A>T c.1676A>T (p.Ter559Leu) c.995A>T (p.Ter332Leu) c.1511A>T (p.Ter504Leu) c.1220A>T (p.Ter407Leu) c.2319+20928T>A (n.2319+20928T>A) c.1055A>T (p.Ter352Leu) | |
| 9 | g.95101708T>C | CA374104220 | AOPEP,FANCC | n.410+20928T>C n.2491A>G c.1676A>G (p.Ter559Trp) c.995A>G (p.Ter332Trp) c.1511A>G (p.Ter504Trp) c.1220A>G (p.Ter407Trp) c.2319+20928T>C (n.2319+20928T>C) c.1055A>G (p.Ter352Trp) | gnomAD v4 |
| 9 | g.95101708T>G | CA374104221 | AOPEP,FANCC | n.410+20928T>G n.2491A>C c.1676A>C (p.Ter559Ser) c.995A>C (p.Ter332Ser) c.1511A>C (p.Ter504Ser) c.1220A>C (p.Ter407Ser) c.2319+20928T>G (n.2319+20928T>G) c.1055A>C (p.Ter352Ser) | |
| 9 | g.95101709A= | CA1865459500 | AOPEP,FANCC | n.410+20929A= n.2490T= c.1675T= (p.Ter559=) c.994T= (p.Ter332=) c.1510T= (p.Ter504=) c.1219T= (p.Ter407=) c.2319+20929A= (n.2319+20929A=) c.1054T= (p.Ter352=) | |
| 9 | g.95101709A>C | CA374104222 | AOPEP,FANCC | n.410+20929A>C n.2490T>G c.1675T>G (p.Ter559Glu) c.994T>G (p.Ter332Glu) c.1510T>G (p.Ter504Glu) c.1219T>G (p.Ter407Glu) c.2319+20929A>C (n.2319+20929A>C) c.1054T>G (p.Ter352Glu) | |
| 9 | g.95101709A>G | CA5137283 | AOPEP,FANCC | n.410+20929A>G n.2490T>C c.1675T>C (p.Ter559Gln) c.994T>C (p.Ter332Gln) c.1510T>C (p.Ter504Gln) c.1219T>C (p.Ter407Gln) c.2319+20929A>G (n.2319+20929A>G) c.1054T>C (p.Ter352Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.95101709A>T | CA374104223 | AOPEP,FANCC | n.410+20929A>T n.2490T>A c.1675T>A (p.Ter559Lys) c.994T>A (p.Ter332Lys) c.1510T>A (p.Ter504Lys) c.1219T>A (p.Ter407Lys) c.2319+20929A>T (n.2319+20929A>T) c.1054T>A (p.Ter352Lys) | |
| 9 | g.95101709dup | CA913160921 | AOPEP,FANCC | n.410+20929dup n.2490dup c.1675dup (p.Ter559LeuextTer?) c.994dup (p.Ter332LeuextTer?) c.1510dup (p.Ter504LeuextTer?) c.1219dup (p.Ter407LeuextTer?) c.2319+20929dup (n.2319+20929dup) c.1054dup (p.Ter352LeuextTer?) | |
| 9 | g.95101710G>A | CA466092032 | AOPEP,FANCC | n.410+20930G>A n.2489C>T c.1674C>T (p.Val558=) c.1819C>T (n.1819C>T) c.993C>T (p.Val331=) c.1509C>T (p.Val503=) c.1218C>T (p.Val406=) c.2319+20930G>A (n.2319+20930G>A) c.1053C>T (p.Val351=) | gnomAD v4 |
| 9 | g.95101710G>C | CA466092033 | AOPEP,FANCC | n.410+20930G>C n.2489C>G c.1674C>G (p.Val558=) c.1819C>G (n.1819C>G) c.993C>G (p.Val331=) c.1509C>G (p.Val503=) c.1218C>G (p.Val406=) c.2319+20930G>C (n.2319+20930G>C) c.1053C>G (p.Val351=) | |
| 9 | g.95101710G>T | CA466092034 | AOPEP,FANCC | n.410+20930G>T n.2489C>A c.1674C>A (p.Val558=) c.1819C>A (n.1819C>A) c.993C>A (p.Val331=) c.1509C>A (p.Val503=) c.1218C>A (p.Val406=) c.2319+20930G>T (n.2319+20930G>T) c.1053C>A (p.Val351=) | COSMIC |
| 9 | g.95101712_95101716dup | CA658822325 | AOPEP,FANCC | n.410+20932_410+20936dup n.2485_2489dup c.1670_1674dup (p.Ter559LysextTer25) c.989_993dup (p.Ter332LysextTer25) c.1505_1509dup (p.Ter504LysextTer25) c.1214_1218dup (p.Ter407LysextTer25) c.2319+20932_2319+20936dup (n.2319+20932_2319+20936dup) c.1049_1053dup (p.Ter352LysextTer25) | ClinVar dbSNP gnomAD v4 |
| 9 | g.95101711A>C | CA374104224 | AOPEP,FANCC | n.410+20931A>C n.2488T>G c.1673T>G (p.Val558Gly) c.1818T>G (n.1818T>G) c.992T>G (p.Val331Gly) c.1508T>G (p.Val503Gly) c.1217T>G (p.Val406Gly) c.2319+20931A>C (n.2319+20931A>C) c.1052T>G (p.Val351Gly) | |
| 9 | g.95101711A>G | CA374104226 | AOPEP,FANCC | n.410+20931A>G n.2488T>C c.1673T>C (p.Val558Ala) c.1818T>C (n.1818T>C) c.992T>C (p.Val331Ala) c.1508T>C (p.Val503Ala) c.1217T>C (p.Val406Ala) c.2319+20931A>G (n.2319+20931A>G) c.1052T>C (p.Val351Ala) | |
| 9 | g.95101711A>T | CA374104225 | AOPEP,FANCC | n.410+20931A>T n.2488T>A c.1673T>A (p.Val558Asp) c.1818T>A (n.1818T>A) c.992T>A (p.Val331Asp) c.1508T>A (p.Val503Asp) c.1217T>A (p.Val406Asp) c.2319+20931A>T (n.2319+20931A>T) c.1052T>A (p.Val351Asp) | |
| 9 | g.95101712C>A | CA5137284 | AOPEP,FANCC | n.410+20932C>A n.2487G>T c.1672G>T (p.Val558Phe) c.1817G>T (n.1817G>T) c.991G>T (p.Val331Phe) c.1507G>T (p.Val503Phe) c.1216G>T (p.Val406Phe) c.2319+20932C>A (n.2319+20932C>A) c.1051G>T (p.Val351Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.95101712C= | CA1865459501 | AOPEP,FANCC | n.410+20932C= n.2487G= c.1672G= (p.Val558=) c.1817G= (n.1817G=) c.991G= (p.Val331=) c.1507G= (p.Val503=) c.1216G= (p.Val406=) c.2319+20932C= (n.2319+20932C=) c.1051G= (p.Val351=) |