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 |
|---|---|---|---|---|---|
| 15 | g.48434593_48434713delinsCCTTCACATGTCATCATTGGACCGGGCTCAAATCCCTCCTCGCAGGTGCATTCAAAACCTCCAATCACATTCTTGCAGGTTCCATTTCCACAAGGATTGCCAACAGAACATTCATCAGTAT | CA2175496854 | FBN1 | c.6497_6616+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG n.106_225+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG c.1496_1615+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG c.*2260_*2379+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG c.1804_1923+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG | |
| 15 | g.48434596_48434715del | CA658824936 | FBN1 | c.6497_6616del n.106_225del c.1496_1615del c.*2260_*2379del c.1804_1923del | ClinVar dbSNP |
| 15 | g.48434611G>A | CA392334686 | FBN1 | c.6599C>T (p.Pro2200Leu) n.208C>T c.1598C>T (p.Pro533Leu) c.*2362C>T (n.*2362C>T) c.1906C>T | |
| 15 | g.48434611G>C | CA392334688 | FBN1 | c.6599C>G (p.Pro2200Arg) n.208C>G c.1598C>G (p.Pro533Arg) c.*2362C>G (n.*2362C>G) c.1906C>G | |
| 15 | g.48434611G>T | CA392334691 | FBN1 | c.6599C>A (p.Pro2200Gln) n.208C>A c.1598C>A (p.Pro533Gln) c.*2362C>A (n.*2362C>A) c.1906C>A | |
| 15 | g.48434612G>A | CA392334693 | FBN1 | c.6598C>T (p.Pro2200Ser) n.207C>T c.1597C>T (p.Pro533Ser) c.*2361C>T (n.*2361C>T) c.1905C>T | |
| 15 | g.48434612G>C | CA392334695 | FBN1 | c.6598C>G (p.Pro2200Ala) n.207C>G c.1597C>G (p.Pro533Ala) c.*2361C>G (n.*2361C>G) c.1905C>G | |
| 15 | g.48434612G>T | CA392334698 | FBN1 | c.6598C>A (p.Pro2200Thr) n.207C>A c.1597C>A (p.Pro533Thr) c.*2361C>A (n.*2361C>A) c.1905C>A | |
| 15 | g.48434613A>C | CA490018728 | FBN1 | c.6597T>G (p.Gly2199=) n.206T>G c.1596T>G (p.Gly532=) c.*2360T>G (n.*2360T>G) c.1904T>G | |
| 15 | g.48434613A>G | CA490018729 | FBN1 | c.6597T>C (p.Gly2199=) n.206T>C c.1596T>C (p.Gly532=) c.*2360T>C (n.*2360T>C) c.1904T>C | |
| 15 | g.48434613A>T | CA490018730 | FBN1 | c.6597T>A (p.Gly2199=) n.206T>A c.1596T>A (p.Gly532=) c.*2360T>A (n.*2360T>A) c.1904T>A | |
| 15 | g.48434613_48434614delinsAC | CA2175496971 | FBN1 | c.6596_6597delinsGT (p.Gly2199=) n.205_206delinsGT c.1595_1596delinsGT (p.Gly532=) c.*2359_*2360delinsGT (n.*2359_*2360delinsGT) c.1903_1904delinsGT | |
| 15 | g.48434614C>A | CA392334702 | FBN1 | c.6596G>T (p.Gly2199Val) n.205G>T c.1595G>T (p.Gly532Val) c.*2359G>T (n.*2359G>T) c.1903G>T | |
| 15 | g.48434614C= | CA2175496985 | FBN1 | c.6596G= (p.Gly2199=) n.205G= c.1595G= (p.Gly532=) c.*2359G= (n.*2359G=) c.1903G= | |
| 15 | g.48434614C>G | CA392334704 | FBN1 | c.6596G>C (p.Gly2199Ala) n.205G>C c.1595G>C (p.Gly532Ala) c.*2359G>C (n.*2359G>C) c.1903G>C | |
| 15 | g.48434614C>T | CA392334706 | FBN1 | c.6596G>A (p.Gly2199Asp) n.205G>A c.1595G>A (p.Gly532Asp) c.*2359G>A (n.*2359G>A) c.1903G>A | ClinVar dbSNP COSMIC |
| 15 | g.48434615del | CA658798050 | FBN1 | c.6596del (p.Gly2199ValfsTer3) n.205del c.1595del (p.Gly532ValfsTer3) c.*2359del (n.*2359del) c.1903del | ClinVar dbSNP |
| 15 | g.48434615C>A | CA392334712 | FBN1 | c.6595G>T (p.Gly2199Cys) n.204G>T c.1594G>T (p.Gly532Cys) c.*2358G>T (n.*2358G>T) c.1902G>T | |
| 15 | g.48434615C= | CA2175496997 | FBN1 | c.6595G= (p.Gly2199=) n.204G= c.1594G= (p.Gly532=) c.*2358G= (n.*2358G=) c.1902G= | |
| 15 | g.48434615C>G | CA392334709 | FBN1 | c.6595G>C (p.Gly2199Arg) n.204G>C c.1594G>C (p.Gly532Arg) c.*2358G>C (n.*2358G>C) c.1902G>C | |
| 15 | g.48434615C>T | CA057037 | FBN1 | c.6595G>A (p.Gly2199Ser) n.204G>A c.1594G>A (p.Gly532Ser) c.*2358G>A (n.*2358G>A) c.1902G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48434616G>A | CA016560 | FBN1 | c.6594C>T (p.Pro2198=) n.203C>T c.1593C>T (p.Pro531=) c.*2357C>T (n.*2357C>T) c.1901C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48434616G>C | CA490018731 | FBN1 | c.6594C>G (p.Pro2198=) n.203C>G c.1593C>G (p.Pro531=) c.*2357C>G (n.*2357C>G) c.1901C>G | gnomAD v4 |
| 15 | g.48434616G= | CA2175497009 | FBN1 | c.6594C= (p.Pro2198=) n.203C= c.1593C= (p.Pro531=) c.*2357C= (n.*2357C=) c.1901C= | |
| 15 | g.48434616G>T | CA490018732 | FBN1 | c.6594C>A (p.Pro2198=) n.203C>A c.1593C>A (p.Pro531=) c.*2357C>A (n.*2357C>A) c.1901C>A | dbSNP |
| 15 | g.48434617G>A | CA392334717 | FBN1 | c.6593C>T (p.Pro2198Leu) n.202C>T c.1592C>T (p.Pro531Leu) c.*2356C>T (n.*2356C>T) c.1900C>T | |
| 15 | g.48434617G>C | CA392334718 | FBN1 | c.6593C>G (p.Pro2198Arg) n.202C>G c.1592C>G (p.Pro531Arg) c.*2356C>G (n.*2356C>G) c.1900C>G | |
| 15 | g.48434617G= | CA2175497035 | FBN1 | c.6593C= (p.Pro2198=) n.202C= c.1592C= (p.Pro531=) c.*2356C= (n.*2356C=) c.1900C= | |
| 15 | g.48434617G>T | CA392334720 | FBN1 | c.6593C>A (p.Pro2198His) n.202C>A c.1592C>A (p.Pro531His) c.*2356C>A (n.*2356C>A) c.1900C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48434618G>A | CA392334726 | FBN1 | c.6592C>T (p.Pro2198Ser) n.201C>T c.1591C>T (p.Pro531Ser) c.*2355C>T (n.*2355C>T) c.1899C>T | |
| 15 | g.48434618G>C | CA392334728 | FBN1 | c.6592C>G (p.Pro2198Ala) n.201C>G c.1591C>G (p.Pro531Ala) c.*2355C>G (n.*2355C>G) c.1899C>G | |
| 15 | g.48434618G>T | CA392334731 | FBN1 | c.6592C>A (p.Pro2198Thr) n.201C>A c.1591C>A (p.Pro531Thr) c.*2355C>A (n.*2355C>A) c.1899C>A | |
| 15 | g.48434619C>A | CA392334733 | FBN1 | c.6591G>T (p.Glu2197Asp) n.200G>T c.1590G>T (p.Glu530Asp) c.*2354G>T (n.*2354G>T) c.1898G>T | ClinVar dbSNP |
| 15 | g.48434619C>G | CA392334734 | FBN1 | c.6591G>C (p.Glu2197Asp) n.200G>C c.1590G>C (p.Glu530Asp) c.*2354G>C (n.*2354G>C) c.1898G>C | |
| 15 | g.48434619C>T | CA490018733 | FBN1 | c.6591G>A (p.Glu2197=) n.200G>A c.1590G>A (p.Glu530=) c.*2354G>A (n.*2354G>A) c.1898G>A | ClinVar |
| 15 | g.48434620del | CA2580089716 | FBN1 | c.6590del (p.Glu2197GlyfsTer5) n.199del c.1589del (p.Glu530GlyfsTer5) c.*2353del (n.*2353del) c.1897del | ClinVar |
| 15 | g.48434620T>A | CA392334738 | FBN1 | c.6590A>T (p.Glu2197Val) n.199A>T c.1589A>T (p.Glu530Val) c.*2353A>T (n.*2353A>T) c.1897A>T | |
| 15 | g.48434620T>C | CA057030 | FBN1 | c.6590A>G (p.Glu2197Gly) n.199A>G c.1589A>G (p.Glu530Gly) c.*2353A>G (n.*2353A>G) c.1897A>G | dbSNP ExAC gnomAD v2 |
| 15 | g.48434620T>G | CA392334742 | FBN1 | c.6590A>C (p.Glu2197Ala) n.199A>C c.1589A>C (p.Glu530Ala) c.*2353A>C (n.*2353A>C) c.1897A>C | ClinVar dbSNP |
| 15 | g.48434620T= | CA2175497042 | FBN1 | c.6590A= (p.Glu2197=) n.199A= c.1589A= (p.Glu530=) c.*2353A= (n.*2353A=) c.1897A= | |
| 15 | g.48434621C>A | CA392334761 | FBN1 | c.6589G>T (p.Glu2197Ter) n.198G>T c.1588G>T (p.Glu530Ter) c.*2352G>T (n.*2352G>T) c.1896G>T | |
| 15 | g.48434621C>G | CA392334756 | FBN1 | c.6589G>C (p.Glu2197Gln) n.198G>C c.1588G>C (p.Glu530Gln) c.*2352G>C (n.*2352G>C) c.1896G>C | |
| 15 | g.48434621C>T | CA392334754 | FBN1 | c.6589G>A (p.Glu2197Lys) n.198G>A c.1588G>A (p.Glu530Lys) c.*2352G>A (n.*2352G>A) c.1896G>A | |
| 15 | g.48434622A>C | CA392334766 | FBN1 | c.6588T>G (p.Phe2196Leu) n.197T>G c.1587T>G (p.Phe529Leu) c.*2351T>G (n.*2351T>G) c.1895T>G | gnomAD v4 |
| 15 | g.48434622A>G | CA490018734 | FBN1 | c.6588T>C (p.Phe2196=) n.197T>C c.1587T>C (p.Phe529=) c.*2351T>C (n.*2351T>C) c.1895T>C | |
| 15 | g.48434622A>T | CA392334763 | FBN1 | c.6588T>A (p.Phe2196Leu) n.197T>A c.1587T>A (p.Phe529Leu) c.*2351T>A (n.*2351T>A) c.1895T>A | |
| 15 | g.48434623A>C | CA392334773 | FBN1 | c.6587T>G (p.Phe2196Cys) n.196T>G c.1586T>G (p.Phe529Cys) c.*2350T>G (n.*2350T>G) c.1894T>G | |
| 15 | g.48434623A>G | CA392334770 | FBN1 | c.6587T>C (p.Phe2196Ser) n.196T>C c.1586T>C (p.Phe529Ser) c.*2350T>C (n.*2350T>C) c.1894T>C | |
| 15 | g.48434623A>T | CA392334771 | FBN1 | c.6587T>A (p.Phe2196Tyr) n.196T>A c.1586T>A (p.Phe529Tyr) c.*2350T>A (n.*2350T>A) c.1894T>A | |
| 15 | g.48434624A= | CA2175497061 | FBN1 | c.6586T= (p.Phe2196=) n.195T= c.1585T= (p.Phe529=) c.*2349T= (n.*2349T=) c.1893T= |