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.48437015_48437045delinsAACCATCTGTATTGATGCACTGTCCATGTTT | CA2175502248 | FBN1 | c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT (p.Lys2138=) n.21_51delinsAAACATGGACAGTGCATCAATACAGATGGTT c.1411_1441delinsAAACATGGACAGTGCATCAATACAGATGGTT (p.Lys471=) c.*2175_*2205delinsAAACATGGACAGTGCATCAATACAGATGGTT (n.*2175_*2205delinsAAACATGGACAGTGCATCAATACAGATGGTT) c.1719_1749delinsAAACATGGACAGTGCATCAATACAGATGGTT | |
| 15 | g.48437018_48437047del | CA891844189 | FBN1 | c.6412_6441del (p.Lys2138_Gly2147del) n.21_50del c.1411_1440del (p.Lys471_Gly480del) c.*2175_*2204del (n.*2175_*2204del) c.1719_1748del | ClinVar dbSNP |
| 15 | g.48437030T>A | CA056776 | FBN1 | c.6427A>T (p.Ile2143Phe) n.36A>T c.1426A>T (p.Ile476Phe) c.*2190A>T (n.*2190A>T) c.1734A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437030T>C | CA392336609 | FBN1 | c.6427A>G (p.Ile2143Val) n.36A>G c.1426A>G (p.Ile476Val) c.*2190A>G (n.*2190A>G) c.1734A>G | dbSNP |
| 15 | g.48437030T>G | CA392336610 | FBN1 | c.6427A>C (p.Ile2143Leu) n.36A>C c.1426A>C (p.Ile476Leu) c.*2190A>C (n.*2190A>C) c.1734A>C | |
| 15 | g.48437030T= | CA2175502302 | FBN1 | c.6427A= (p.Ile2143=) n.36A= c.1426A= (p.Ile476=) c.*2190A= (n.*2190A=) c.1734A= | |
| 15 | g.48437031G>A | CA490019228 | FBN1 | c.6426C>T (p.Cys2142=) n.35C>T c.1425C>T (p.Cys475=) c.*2189C>T (n.*2189C>T) c.1733C>T | |
| 15 | g.48437031G>C | CA392336611 | FBN1 | c.6426C>G (p.Cys2142Trp) n.35C>G c.1425C>G (p.Cys475Trp) c.*2189C>G (n.*2189C>G) c.1733C>G | |
| 15 | g.48437031G>T | CA392336612 | FBN1 | c.6426C>A (p.Cys2142Ter) n.35C>A c.1425C>A (p.Cys475Ter) c.*2189C>A (n.*2189C>A) c.1733C>A | |
| 15 | g.48437032C>A | CA392336613 | FBN1 | c.6425G>T (p.Cys2142Phe) n.34G>T c.1424G>T (p.Cys475Phe) c.*2188G>T (n.*2188G>T) c.1732G>T | |
| 15 | g.48437032C= | CA2175502326 | FBN1 | c.6425G= (p.Cys2142=) n.34G= c.1424G= (p.Cys475=) c.*2188G= (n.*2188G=) c.1732G= | |
| 15 | g.48437032C>G | CA392336614 | FBN1 | c.6425G>C (p.Cys2142Ser) n.34G>C c.1424G>C (p.Cys475Ser) c.*2188G>C (n.*2188G>C) c.1732G>C | |
| 15 | g.48437032C>T | CA016442 | FBN1 | c.6425G>A (p.Cys2142Tyr) n.34G>A c.1424G>A (p.Cys475Tyr) c.*2188G>A (n.*2188G>A) c.1732G>A | ClinVar dbSNP |
| 15 | g.48437033A= | CA2175502336 | FBN1 | c.6424T= (p.Cys2142=) n.33T= c.1423T= (p.Cys475=) c.*2187T= (n.*2187T=) c.1731T= | |
| 15 | g.48437033A>C | CA392336615 | FBN1 | c.6424T>G (p.Cys2142Gly) n.33T>G c.1423T>G (p.Cys475Gly) c.*2187T>G (n.*2187T>G) c.1731T>G | ClinVar |
| 15 | g.48437033A>G | CA392336616 | FBN1 | c.6424T>C (p.Cys2142Arg) n.33T>C c.1423T>C (p.Cys475Arg) c.*2187T>C (n.*2187T>C) c.1731T>C | ClinVar dbSNP |
| 15 | g.48437033A>T | CA392336617 | FBN1 | c.6424T>A (p.Cys2142Ser) n.33T>A c.1423T>A (p.Cys475Ser) c.*2187T>A (n.*2187T>A) c.1731T>A | ClinVar dbSNP |
| 15 | g.48437034del | CA2573150928 | FBN1 | c.6423del (p.Gln2141HisfsTer19) n.32del c.1422del (p.Gln474HisfsTer19) c.*2186del (n.*2186del) c.1730del | ClinVar dbSNP |
| 15 | g.48437034C>A | CA392336618 | FBN1 | c.6423G>T (p.Gln2141His) n.32G>T c.1422G>T (p.Gln474His) c.*2186G>T (n.*2186G>T) c.1730G>T | |
| 15 | g.48437034C>G | CA392336619 | FBN1 | c.6423G>C (p.Gln2141His) n.32G>C c.1422G>C (p.Gln474His) c.*2186G>C (n.*2186G>C) c.1730G>C | |
| 15 | g.48437034C>T | CA490019229 | FBN1 | c.6423G>A (p.Gln2141=) n.32G>A c.1422G>A (p.Gln474=) c.*2186G>A (n.*2186G>A) c.1730G>A | gnomAD v4 |
| 15 | g.48437035T>A | CA392336620 | FBN1 | c.6422A>T (p.Gln2141Leu) n.31A>T c.1421A>T (p.Gln474Leu) c.*2185A>T (n.*2185A>T) c.1729A>T | ClinVar |
| 15 | g.48437035T>C | CA392336621 | FBN1 | c.6422A>G (p.Gln2141Arg) n.31A>G c.1421A>G (p.Gln474Arg) c.*2185A>G (n.*2185A>G) c.1729A>G | |
| 15 | g.48437035T>G | CA392336622 | FBN1 | c.6422A>C (p.Gln2141Pro) n.31A>C c.1421A>C (p.Gln474Pro) c.*2185A>C (n.*2185A>C) c.1729A>C | |
| 15 | g.48437036G>A | CA269526197 | FBN1 | c.6421C>T (p.Gln2141Ter) n.30C>T c.1420C>T (p.Gln474Ter) c.*2184C>T (n.*2184C>T) c.1728C>T | dbSNP |
| 15 | g.48437036G>C | CA392336623 | FBN1 | c.6421C>G (p.Gln2141Glu) n.30C>G c.1420C>G (p.Gln474Glu) c.*2184C>G (n.*2184C>G) c.1728C>G | |
| 15 | g.48437036G= | CA2175502339 | FBN1 | c.6421C= (p.Gln2141=) n.30C= c.1420C= (p.Gln474=) c.*2184C= (n.*2184C=) c.1728C= | |
| 15 | g.48437036G>T | CA392336624 | FBN1 | c.6421C>A (p.Gln2141Lys) n.30C>A c.1420C>A (p.Gln474Lys) c.*2184C>A (n.*2184C>A) c.1728C>A | |
| 15 | g.48437037T>A | CA490019230 | FBN1 | c.6420A>T (p.Gly2140=) n.29A>T c.1419A>T (p.Gly473=) c.*2183A>T (n.*2183A>T) c.1727A>T | |
| 15 | g.48437037T>C | CA490019231 | FBN1 | c.6420A>G (p.Gly2140=) n.29A>G c.1419A>G (p.Gly473=) c.*2183A>G (n.*2183A>G) c.1727A>G | gnomAD v4 |
| 15 | g.48437037T>G | CA490019232 | FBN1 | c.6420A>C (p.Gly2140=) n.29A>C c.1419A>C (p.Gly473=) c.*2183A>C (n.*2183A>C) c.1727A>C | |
| 15 | g.48437038C>A | CA392336625 | FBN1 | c.6419G>T (p.Gly2140Val) n.28G>T c.1418G>T (p.Gly473Val) c.*2182G>T (n.*2182G>T) c.1726G>T | |
| 15 | g.48437038C= | CA2175502344 | FBN1 | c.6419G= (p.Gly2140=) n.28G= c.1418G= (p.Gly473=) c.*2182G= (n.*2182G=) c.1726G= | |
| 15 | g.48437038C>G | CA392336626 | FBN1 | c.6419G>C (p.Gly2140Ala) n.28G>C c.1418G>C (p.Gly473Ala) c.*2182G>C (n.*2182G>C) c.1726G>C | |
| 15 | g.48437038C>T | CA16619944 | FBN1 | c.6419G>A (p.Gly2140Glu) n.28G>A c.1418G>A (p.Gly473Glu) c.*2182G>A (n.*2182G>A) c.1726G>A | ClinVar dbSNP |
| 15 | g.48437039C>A | CA392336627 | FBN1 | c.6418G>T (p.Gly2140Ter) n.27G>T c.1417G>T (p.Gly473Ter) c.*2181G>T (n.*2181G>T) c.1725G>T | |
| 15 | g.48437039C= | CA2175502348 | FBN1 | c.6418G= (p.Gly2140=) n.27G= c.1417G= (p.Gly473=) c.*2181G= (n.*2181G=) c.1725G= | |
| 15 | g.48437039C>G | CA392336628 | FBN1 | c.6418G>C (p.Gly2140Arg) n.27G>C c.1417G>C (p.Gly473Arg) c.*2181G>C (n.*2181G>C) c.1725G>C | |
| 15 | g.48437039C>T | CA016435 | FBN1 | c.6418G>A (p.Gly2140Arg) n.27G>A c.1417G>A (p.Gly473Arg) c.*2181G>A (n.*2181G>A) c.1725G>A | ClinVar dbSNP |
| 15 | g.48437040A= | CA2175502364 | FBN1 | c.6417T= (p.His2139=) n.26T= c.1416T= (p.His472=) c.*2180T= (n.*2180T=) c.1724T= | |
| 15 | g.48437040A>C | CA392336630 | FBN1 | c.6417T>G (p.His2139Gln) n.26T>G c.1416T>G (p.His472Gln) c.*2180T>G (n.*2180T>G) c.1724T>G | |
| 15 | g.48437040A>G | CA269526205 | FBN1 | c.6417T>C (p.His2139=) n.26T>C c.1416T>C (p.His472=) c.*2180T>C (n.*2180T>C) c.1724T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437040A>T | CA392336629 | FBN1 | c.6417T>A (p.His2139Gln) n.26T>A c.1416T>A (p.His472Gln) c.*2180T>A (n.*2180T>A) c.1724T>A | |
| 15 | g.48437041del | CA2580089547 | FBN1 | c.6416del (p.His2139LeufsTer21) n.25del c.1415del (p.His472LeufsTer21) c.*2179del (n.*2179del) c.1723del | ClinVar |
| 15 | g.48437041T>A | CA392336632 | FBN1 | c.6416A>T (p.His2139Leu) n.25A>T c.1415A>T (p.His472Leu) c.*2179A>T (n.*2179A>T) c.1723A>T | |
| 15 | g.48437041T>C | CA016430 | FBN1 | c.6416A>G (p.His2139Arg) n.25A>G c.1415A>G (p.His472Arg) c.*2179A>G (n.*2179A>G) c.1723A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437041T>G | CA392336631 | FBN1 | c.6416A>C (p.His2139Pro) n.25A>C c.1415A>C (p.His472Pro) c.*2179A>C (n.*2179A>C) c.1723A>C | |
| 15 | g.48437041T= | CA2175502370 | FBN1 | c.6416A= (p.His2139=) n.25A= c.1415A= (p.His472=) c.*2179A= (n.*2179A=) c.1723A= | |
| 15 | g.48437042del | CA2695220259 | FBN1 | c.6415del (p.His2139MetfsTer21) n.24del c.1414del (p.His472MetfsTer21) c.*2178del (n.*2178del) c.1722del | |
| 15 | g.48437042G>A | CA392336633 | FBN1 | c.6415C>T (p.His2139Tyr) n.24C>T c.1414C>T (p.His472Tyr) c.*2178C>T (n.*2178C>T) c.1722C>T | dbSNP gnomAD v2 gnomAD v4 |