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.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 |
| 15 | g.48437042G>C | CA392336634 | FBN1 | c.6415C>G (p.His2139Asp) n.24C>G c.1414C>G (p.His472Asp) c.*2178C>G (n.*2178C>G) c.1722C>G | |
| 15 | g.48437042G= | CA2175502394 | FBN1 | c.6415C= (p.His2139=) n.24C= c.1414C= (p.His472=) c.*2178C= (n.*2178C=) c.1722C= | |
| 15 | g.48437042G>T | CA392336635 | FBN1 | c.6415C>A (p.His2139Asn) n.24C>A c.1414C>A (p.His472Asn) c.*2178C>A (n.*2178C>A) c.1722C>A | |
| 15 | g.48437042_48437043delinsGT | CA2175502397 | FBN1 | c.6414_6415delinsAC (p.Lys2138=) n.23_24delinsAC c.1413_1414delinsAC (p.Lys471=) c.*2177_*2178delinsAC (n.*2177_*2178delinsAC) c.1721_1722delinsAC | |
| 15 | g.48437043T>A | CA392336636 | FBN1 | c.6414A>T (p.Lys2138Asn) n.23A>T c.1413A>T (p.Lys471Asn) c.*2177A>T (n.*2177A>T) c.1721A>T | |
| 15 | g.48437043T>C | CA490019234 | FBN1 | c.6414A>G (p.Lys2138=) n.23A>G c.1413A>G (p.Lys471=) c.*2177A>G (n.*2177A>G) c.1721A>G | gnomAD v4 |
| 15 | g.48437043T>G | CA392336637 | FBN1 | c.6414A>C (p.Lys2138Asn) n.23A>C c.1413A>C (p.Lys471Asn) c.*2177A>C (n.*2177A>C) c.1721A>C | |
| 15 | g.48437045del | CA658824939 | FBN1 | c.6414del (p.Lys2138AsnfsTer22) n.23del c.1413del (p.Lys471AsnfsTer22) c.*2177del (n.*2177del) c.1721del | ClinVar dbSNP |
| 15 | g.48437044T>A | CA392336638 | FBN1 | c.6413A>T (p.Lys2138Ile) n.22A>T c.1412A>T (p.Lys471Ile) c.*2176A>T (n.*2176A>T) c.1720A>T | |
| 15 | g.48437044T>C | CA392336639 | FBN1 | c.6413A>G (p.Lys2138Arg) n.22A>G c.1412A>G (p.Lys471Arg) c.*2176A>G (n.*2176A>G) c.1720A>G | |
| 15 | g.48437044T>G | CA392336640 | FBN1 | c.6413A>C (p.Lys2138Thr) n.22A>C c.1412A>C (p.Lys471Thr) c.*2176A>C (n.*2176A>C) c.1720A>C | |
| 15 | g.48437045T>A | CA392336641 | FBN1 | c.6412A>T (p.Lys2138Ter) n.21A>T c.1411A>T (p.Lys471Ter) c.*2175A>T (n.*2175A>T) c.1719A>T | |
| 15 | g.48437045T>C | CA392336642 | FBN1 | c.6412A>G (p.Lys2138Glu) n.21A>G c.1411A>G (p.Lys471Glu) c.*2175A>G (n.*2175A>G) c.1719A>G | |
| 15 | g.48437045T>G | CA392336643 | FBN1 | c.6412A>C (p.Lys2138Gln) n.21A>C c.1411A>C (p.Lys471Gln) c.*2175A>C (n.*2175A>C) c.1719A>C | |
| 15 | g.48437046A>C | CA392336645 | FBN1 | c.6411T>G (p.Cys2137Trp) n.20T>G c.1410T>G (p.Cys470Trp) c.*2174T>G (n.*2174T>G) c.1718T>G | |
| 15 | g.48437046A>G | CA490019235 | FBN1 | c.6411T>C (p.Cys2137=) n.20T>C c.1410T>C (p.Cys470=) c.*2174T>C (n.*2174T>C) c.1718T>C | |
| 15 | g.48437046A>T | CA392336644 | FBN1 | c.6411T>A (p.Cys2137Ter) n.20T>A c.1410T>A (p.Cys470Ter) c.*2174T>A (n.*2174T>A) c.1718T>A | |
| 15 | g.48437046_48437048dup | CA2695220261 | FBN1 | c.6409_6411dup (p.Cys2137_Lys2138insCys) n.18_20dup c.1408_1410dup (p.Cys470_Lys471insCys) c.*2172_*2174dup (n.*2172_*2174dup) c.1716_1718dup | |
| 15 | g.48437047C>A | CA392336646 | FBN1 | c.6410G>T (p.Cys2137Phe) n.19G>T c.1409G>T (p.Cys470Phe) c.*2173G>T (n.*2173G>T) c.1717G>T | |
| 15 | g.48437047C= | CA2175502409 | FBN1 | c.6410G= (p.Cys2137=) n.19G= c.1409G= (p.Cys470=) c.*2173G= (n.*2173G=) c.1717G= | |
| 15 | g.48437047C>G | CA392336647 | FBN1 | c.6410G>C (p.Cys2137Ser) n.19G>C c.1409G>C (p.Cys470Ser) c.*2173G>C (n.*2173G>C) c.1717G>C | ClinVar dbSNP |
| 15 | g.48437047C>T | CA392336648 | FBN1 | c.6410G>A (p.Cys2137Tyr) n.19G>A c.1409G>A (p.Cys470Tyr) c.*2173G>A (n.*2173G>A) c.1717G>A | ClinVar dbSNP |