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 |
|---|---|---|---|---|---|
| 7 | g.97853354C>A | CA368265199 | ASNS | c.1271G>T (p.Arg424Leu) c.1208G>T (p.Arg403Leu) c.1022G>T (p.Arg341Leu) c.*139G>T (n.*139G>T) n.329G>T n.2974G>T | |
| 7 | g.97853354C= | CA1728317257 | ASNS | c.1271G= (p.Arg424=) c.1208G= (p.Arg403=) c.1022G= (p.Arg341=) c.*139G= (n.*139G=) n.329G= n.2974G= | |
| 7 | g.97853354C>G | CA368265202 | ASNS | c.1271G>C (p.Arg424Pro) c.1208G>C (p.Arg403Pro) c.1022G>C (p.Arg341Pro) c.*139G>C (n.*139G>C) n.329G>C n.2974G>C | |
| 7 | g.97853354C>T | CA368265201 | ASNS | c.1271G>A (p.Arg424Gln) c.1208G>A (p.Arg403Gln) c.1022G>A (p.Arg341Gln) c.*139G>A (n.*139G>A) n.329G>A n.2974G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.97853355G>A | CA368265204 | ASNS | c.1270C>T (p.Arg424Ter) c.1207C>T (p.Arg403Ter) c.1021C>T (p.Arg341Ter) c.*138C>T (n.*138C>T) n.328C>T n.2973C>T | ClinVar gnomAD v4 COSMIC COSMIC |
| 7 | g.97853355G>C | CA368265207 | ASNS | c.1270C>G (p.Arg424Gly) c.1207C>G (p.Arg403Gly) c.1021C>G (p.Arg341Gly) c.*138C>G (n.*138C>G) n.328C>G n.2973C>G | |
| 7 | g.97853355G>T | CA456634705 | ASNS | c.1270C>A (p.Arg424=) c.1207C>A (p.Arg403=) c.1021C>A (p.Arg341=) c.*138C>A (n.*138C>A) n.328C>A n.2973C>A | |
| 7 | g.97853356A>C | CA368265210 | ASNS | c.1269T>G (p.His423Gln) c.1206T>G (p.His402Gln) c.1020T>G (p.His340Gln) c.*137T>G (n.*137T>G) n.327T>G n.2972T>G | |
| 7 | g.97853356A>G | CA456634712 | ASNS | c.1269T>C (p.His423=) c.1206T>C (p.His402=) c.1020T>C (p.His340=) c.*137T>C (n.*137T>C) n.327T>C n.2972T>C | gnomAD v4 |
| 7 | g.97853356A>T | CA368265211 | ASNS | c.1269T>A (p.His423Gln) c.1206T>A (p.His402Gln) c.1020T>A (p.His340Gln) c.*137T>A (n.*137T>A) n.327T>A n.2972T>A | |
| 7 | g.97853357T>A | CA368265215 | ASNS | c.1268A>T (p.His423Leu) c.1205A>T (p.His402Leu) c.1019A>T (p.His340Leu) c.*136A>T (n.*136A>T) n.326A>T n.2971A>T | |
| 7 | g.97853357T>C | CA368265220 | ASNS | c.1268A>G (p.His423Arg) c.1205A>G (p.His402Arg) c.1019A>G (p.His340Arg) c.*136A>G (n.*136A>G) n.326A>G n.2971A>G | |
| 7 | g.97853357T>G | CA368265217 | ASNS | c.1268A>C (p.His423Pro) c.1205A>C (p.His402Pro) c.1019A>C (p.His340Pro) c.*136A>C (n.*136A>C) n.326A>C n.2971A>C | |
| 7 | g.97853358G>A | CA368265223 | ASNS | c.1267C>T (p.His423Tyr) c.1204C>T (p.His402Tyr) c.1018C>T (p.His340Tyr) c.*135C>T (n.*135C>T) n.325C>T n.2970C>T | |
| 7 | g.97853358G>C | CA368265225 | ASNS | c.1267C>G (p.His423Asp) c.1204C>G (p.His402Asp) c.1018C>G (p.His340Asp) c.*135C>G (n.*135C>G) n.325C>G n.2970C>G | |
| 7 | g.97853358G>T | CA368265227 | ASNS | c.1267C>A (p.His423Asn) c.1204C>A (p.His402Asn) c.1018C>A (p.His340Asn) c.*135C>A (n.*135C>A) n.325C>A n.2970C>A | |
| 7 | g.97853359A>C | CA368265230 | ASNS | c.1266T>G (p.Asp422Glu) c.1203T>G (p.Asp401Glu) c.1017T>G (p.Asp339Glu) c.*134T>G (n.*134T>G) n.324T>G n.2969T>G | ClinVar gnomAD v4 |
| 7 | g.97853359A>G | CA456634726 | ASNS | c.1266T>C (p.Asp422=) c.1203T>C (p.Asp401=) c.1017T>C (p.Asp339=) c.*134T>C (n.*134T>C) n.324T>C n.2969T>C | |
| 7 | g.97853359A>T | CA368265232 | ASNS | c.1266T>A (p.Asp422Glu) c.1203T>A (p.Asp401Glu) c.1017T>A (p.Asp339Glu) c.*134T>A (n.*134T>A) n.324T>A n.2969T>A | |
| 7 | g.97853360T>A | CA368265235 | ASNS | c.1265A>T (p.Asp422Val) c.1202A>T (p.Asp401Val) c.1016A>T (p.Asp339Val) c.*133A>T (n.*133A>T) n.323A>T n.2968A>T | |
| 7 | g.97853360T>C | CA368265237 | ASNS | c.1265A>G (p.Asp422Gly) c.1202A>G (p.Asp401Gly) c.1016A>G (p.Asp339Gly) c.*133A>G (n.*133A>G) n.323A>G n.2968A>G | |
| 7 | g.97853360T>G | CA368265239 | ASNS | c.1265A>C (p.Asp422Ala) c.1202A>C (p.Asp401Ala) c.1016A>C (p.Asp339Ala) c.*133A>C (n.*133A>C) n.323A>C n.2968A>C | |
| 7 | g.97853361C>A | CA368265242 | ASNS | c.1264G>T (p.Asp422Tyr) c.1201G>T (p.Asp401Tyr) c.1015G>T (p.Asp339Tyr) c.*132G>T (n.*132G>T) n.322G>T n.2967G>T | |
| 7 | g.97853361C>G | CA368265244 | ASNS | c.1264G>C (p.Asp422His) c.1201G>C (p.Asp401His) c.1015G>C (p.Asp339His) c.*132G>C (n.*132G>C) n.322G>C n.2967G>C | |
| 7 | g.97853361C>T | CA368265246 | ASNS | c.1264G>A (p.Asp422Asn) c.1201G>A (p.Asp401Asn) c.1015G>A (p.Asp339Asn) c.*132G>A (n.*132G>A) n.322G>A n.2967G>A | gnomAD v4 |
| 7 | g.97853362T>A | CA456634737 | ASNS | c.1263A>T (p.Leu421=) c.1200A>T (p.Leu400=) c.1014A>T (p.Leu338=) c.*131A>T (n.*131A>T) n.321A>T n.2966A>T | |
| 7 | g.97853362T>C | CA456634742 | ASNS | c.1263A>G (p.Leu421=) c.1200A>G (p.Leu400=) c.1014A>G (p.Leu338=) c.*131A>G (n.*131A>G) n.321A>G n.2966A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.97853362T>G | CA456634739 | ASNS | c.1263A>C (p.Leu421=) c.1200A>C (p.Leu400=) c.1014A>C (p.Leu338=) c.*131A>C (n.*131A>C) n.321A>C n.2966A>C | |
| 7 | g.97853363A= | CA1728317258 | ASNS | c.1262T= (p.Leu421=) c.1199T= (p.Leu400=) c.1013T= (p.Leu338=) c.*130T= (n.*130T=) n.320T= n.2965T= | |
| 7 | g.97853363A>C | CA368265252 | ASNS | c.1262T>G (p.Leu421Arg) c.1199T>G (p.Leu400Arg) c.1013T>G (p.Leu338Arg) c.*130T>G (n.*130T>G) n.320T>G n.2965T>G | |
| 7 | g.97853363A>G | CA4354540 | ASNS | c.1262T>C (p.Leu421Pro) c.1199T>C (p.Leu400Pro) c.1013T>C (p.Leu338Pro) c.*130T>C (n.*130T>C) n.320T>C n.2965T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.97853363A>T | CA368265249 | ASNS | c.1262T>A (p.Leu421Gln) c.1199T>A (p.Leu400Gln) c.1013T>A (p.Leu338Gln) c.*130T>A (n.*130T>A) n.320T>A n.2965T>A | |
| 7 | g.97853364G>A | CA456634746 | ASNS | c.1261C>T (p.Leu421=) c.1198C>T (p.Leu400=) c.1012C>T (p.Leu338=) c.*129C>T (n.*129C>T) n.319C>T n.2964C>T | |
| 7 | g.97853364G>C | CA368265255 | ASNS | c.1261C>G (p.Leu421Val) c.1198C>G (p.Leu400Val) c.1012C>G (p.Leu338Val) c.*129C>G (n.*129C>G) n.319C>G n.2964C>G | |
| 7 | g.97853364G>T | CA368265256 | ASNS | c.1261C>A (p.Leu421Ile) c.1198C>A (p.Leu400Ile) c.1012C>A (p.Leu338Ile) c.*129C>A (n.*129C>A) n.319C>A n.2964C>A | |
| 7 | g.97853365A= | CA1728317259 | ASNS | c.1260T= (p.Phe420=) c.1197T= (p.Phe399=) c.1011T= (p.Phe337=) c.*128T= (n.*128T=) n.318T= n.2963T= | |
| 7 | g.97853365A>C | CA368265257 | ASNS | c.1260T>G (p.Phe420Leu) c.1197T>G (p.Phe399Leu) c.1011T>G (p.Phe337Leu) c.*128T>G (n.*128T>G) n.318T>G n.2963T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.97853365A>G | CA456634752 | ASNS | c.1260T>C (p.Phe420=) c.1197T>C (p.Phe399=) c.1011T>C (p.Phe337=) c.*128T>C (n.*128T>C) n.318T>C n.2963T>C | |
| 7 | g.97853365A>T | CA368265258 | ASNS | c.1260T>A (p.Phe420Leu) c.1197T>A (p.Phe399Leu) c.1011T>A (p.Phe337Leu) c.*128T>A (n.*128T>A) n.318T>A n.2963T>A | |
| 7 | g.97853366A>C | CA368265259 | ASNS | c.1259T>G (p.Phe420Cys) c.1196T>G (p.Phe399Cys) c.1010T>G (p.Phe337Cys) c.*127T>G (n.*127T>G) n.317T>G n.2962T>G | |
| 7 | g.97853366A>G | CA368265260 | ASNS | c.1259T>C (p.Phe420Ser) c.1196T>C (p.Phe399Ser) c.1010T>C (p.Phe337Ser) c.*127T>C (n.*127T>C) n.317T>C n.2962T>C | |
| 7 | g.97853366A>T | CA368265261 | ASNS | c.1259T>A (p.Phe420Tyr) c.1196T>A (p.Phe399Tyr) c.1010T>A (p.Phe337Tyr) c.*127T>A (n.*127T>A) n.317T>A n.2962T>A | gnomAD v4 |
| 7 | g.97853367A= | CA1728317260 | ASNS | c.1258T= (p.Phe420=) c.1195T= (p.Phe399=) c.1009T= (p.Phe337=) c.*126T= (n.*126T=) n.316T= n.2961T= | |
| 7 | g.97853367A>C | CA368265262 | ASNS | c.1258T>G (p.Phe420Val) c.1195T>G (p.Phe399Val) c.1009T>G (p.Phe337Val) c.*126T>G (n.*126T>G) n.316T>G n.2961T>G | |
| 7 | g.97853367A>G | CA368265263 | ASNS | c.1258T>C (p.Phe420Leu) c.1195T>C (p.Phe399Leu) c.1009T>C (p.Phe337Leu) c.*126T>C (n.*126T>C) n.316T>C n.2961T>C | dbSNP gnomAD v4 |
| 7 | g.97853367A>T | CA368265264 | ASNS | c.1258T>A (p.Phe420Ile) c.1195T>A (p.Phe399Ile) c.1009T>A (p.Phe337Ile) c.*126T>A (n.*126T>A) n.316T>A n.2961T>A | |
| 7 | g.97853368T>A | CA456634762 | ASNS | c.1257A>T (p.Pro419=) c.1194A>T (p.Pro398=) c.1008A>T (p.Pro336=) c.*125A>T (n.*125A>T) n.315A>T n.2960A>T | |
| 7 | g.97853368T>C | CA456634764 | ASNS | c.1257A>G (p.Pro419=) c.1194A>G (p.Pro398=) c.1008A>G (p.Pro336=) c.*125A>G (n.*125A>G) n.315A>G n.2960A>G | ClinVar dbSNP |
| 7 | g.97853368T>G | CA456634765 | ASNS | c.1257A>C (p.Pro419=) c.1194A>C (p.Pro398=) c.1008A>C (p.Pro336=) c.*125A>C (n.*125A>C) n.315A>C n.2960A>C | |
| 7 | g.97853368T= | CA1728317261 | ASNS | c.1257A= (p.Pro419=) c.1194A= (p.Pro398=) c.1008A= (p.Pro336=) c.*125A= (n.*125A=) n.315A= n.2960A= |