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 |
|---|---|---|---|---|---|
| X | g.85956199_85956217del | CA2695234666 | CHM | c.1103_1121del (p.Tyr368CysfsTer?) n.126+71275_126+71293del c.1040_1058del (p.Tyr347CysfsTer?) c.659_677del (p.Tyr220CysfsTer?) | |
| X | g.85956210T>A | CA413784955 | CHM | c.1109A>T (p.Asn370Ile) n.126+71281A>T c.1046A>T (p.Asn349Ile) c.665A>T (p.Asn222Ile) | |
| X | g.85956210T>C | CA413784956 | CHM | c.1109A>G (p.Asn370Ser) n.126+71281A>G c.1046A>G (p.Asn349Ser) c.665A>G (p.Asn222Ser) | |
| X | g.85956210T>G | CA413784957 | CHM | c.1109A>C (p.Asn370Thr) n.126+71281A>C c.1046A>C (p.Asn349Thr) c.665A>C (p.Asn222Thr) | |
| X | g.85956211T>A | CA413784959 | CHM | c.1108A>T (p.Asn370Tyr) n.126+71280A>T c.1045A>T (p.Asn349Tyr) c.664A>T (p.Asn222Tyr) | |
| X | g.85956211T>C | CA413784961 | CHM | c.1108A>G (p.Asn370Asp) n.126+71280A>G c.1045A>G (p.Asn349Asp) c.664A>G (p.Asn222Asp) | |
| X | g.85956211T>G | CA413784962 | CHM | c.1108A>C (p.Asn370His) n.126+71280A>C c.1045A>C (p.Asn349His) c.664A>C (p.Asn222His) | |
| X | g.85956212G>A | CA517490951 | CHM | c.1107C>T (p.Gly369=) n.126+71279C>T c.1044C>T (p.Gly348=) c.663C>T (p.Gly221=) | |
| X | g.85956212G>C | CA517490953 | CHM | c.1107C>G (p.Gly369=) n.126+71279C>G c.1044C>G (p.Gly348=) c.663C>G (p.Gly221=) | |
| X | g.85956212G>T | CA517490952 | CHM | c.1107C>A (p.Gly369=) n.126+71279C>A c.1044C>A (p.Gly348=) c.663C>A (p.Gly221=) | |
| X | g.85956213C>A | CA413784964 | CHM | c.1106G>T (p.Gly369Val) n.126+71278G>T c.1043G>T (p.Gly348Val) c.662G>T (p.Gly221Val) | |
| X | g.85956213C>G | CA413784966 | CHM | c.1106G>C (p.Gly369Ala) n.126+71278G>C c.1043G>C (p.Gly348Ala) c.662G>C (p.Gly221Ala) | |
| X | g.85956213C>T | CA413784967 | CHM | c.1106G>A (p.Gly369Asp) n.126+71278G>A c.1043G>A (p.Gly348Asp) c.662G>A (p.Gly221Asp) | |
| X | g.85956214C>A | CA413784970 | CHM | c.1105G>T (p.Gly369Cys) n.126+71277G>T c.1042G>T (p.Gly348Cys) c.661G>T (p.Gly221Cys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956214C= | CA2442478021 | CHM | c.1105G= (p.Gly369=) n.126+71277G= c.1042G= (p.Gly348=) c.661G= (p.Gly221=) | |
| X | g.85956214C>G | CA413784969 | CHM | c.1105G>C (p.Gly369Arg) n.126+71277G>C c.1042G>C (p.Gly348Arg) c.661G>C (p.Gly221Arg) | |
| X | g.85956214C>T | CA413784968 | CHM | c.1105G>A (p.Gly369Ser) n.126+71277G>A c.1042G>A (p.Gly348Ser) c.661G>A (p.Gly221Ser) | |
| X | g.85956215A= | CA2442478022 | CHM | c.1104T= (p.Tyr368=) n.126+71276T= c.1041T= (p.Tyr347=) c.660T= (p.Tyr220=) | |
| X | g.85956215A>C | CA413784972 | CHM | c.1104T>G (p.Tyr368Ter) n.126+71276T>G c.1041T>G (p.Tyr347Ter) c.660T>G (p.Tyr220Ter) | |
| X | g.85956215A>G | CA517490954 | CHM | c.1104T>C (p.Tyr368=) n.126+71276T>C c.1041T>C (p.Tyr347=) c.660T>C (p.Tyr220=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.85956215A>T | CA413784973 | CHM | c.1104T>A (p.Tyr368Ter) n.126+71276T>A c.1041T>A (p.Tyr347Ter) c.660T>A (p.Tyr220Ter) | |
| X | g.85956216T>A | CA413784975 | CHM | c.1103A>T (p.Tyr368Phe) n.126+71275A>T c.1040A>T (p.Tyr347Phe) c.659A>T (p.Tyr220Phe) | |
| X | g.85956216T>C | CA413784977 | CHM | c.1103A>G (p.Tyr368Cys) n.126+71275A>G c.1040A>G (p.Tyr347Cys) c.659A>G (p.Tyr220Cys) | dbSNP |
| X | g.85956216T>G | CA413784979 | CHM | c.1103A>C (p.Tyr368Ser) n.126+71275A>C c.1040A>C (p.Tyr347Ser) c.659A>C (p.Tyr220Ser) | |
| X | g.85956216T= | CA2442478023 | CHM | c.1103A= (p.Tyr368=) n.126+71275A= c.1040A= (p.Tyr347=) c.659A= (p.Tyr220=) | |
| X | g.85956217A>C | CA413784980 | CHM | c.1102T>G (p.Tyr368Asp) n.126+71274T>G c.1039T>G (p.Tyr347Asp) c.658T>G (p.Tyr220Asp) | |
| X | g.85956217A>G | CA413784982 | CHM | c.1102T>C (p.Tyr368His) n.126+71274T>C c.1039T>C (p.Tyr347His) c.658T>C (p.Tyr220His) | |
| X | g.85956217A>T | CA413784984 | CHM | c.1102T>A (p.Tyr368Asn) n.126+71274T>A c.1039T>A (p.Tyr347Asn) c.658T>A (p.Tyr220Asn) | |
| X | g.85956218C>A | CA517490956 | CHM | c.1101G>T (p.Arg367=) n.126+71273G>T c.1038G>T (p.Arg346=) c.657G>T (p.Arg219=) | |
| X | g.85956218C= | CA2442478024 | CHM | c.1101G= (p.Arg367=) n.126+71273G= c.1038G= (p.Arg346=) c.657G= (p.Arg219=) | |
| X | g.85956218C>G | CA517490957 | CHM | c.1101G>C (p.Arg367=) n.126+71273G>C c.1038G>C (p.Arg346=) c.657G>C (p.Arg219=) | |
| X | g.85956218C>T | CA332654826 | CHM | c.1101G>A (p.Arg367=) n.126+71273G>A c.1038G>A (p.Arg346=) c.657G>A (p.Arg219=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956219C>A | CA10465472 | CHM | c.1100G>T (p.Arg367Leu) n.126+71272G>T c.1037G>T (p.Arg346Leu) c.656G>T (p.Arg219Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85956219C= | CA2442478025 | CHM | c.1100G= (p.Arg367=) n.126+71272G= c.1037G= (p.Arg346=) c.656G= (p.Arg219=) | |
| X | g.85956219C>G | CA413784986 | CHM | c.1100G>C (p.Arg367Pro) n.126+71272G>C c.1037G>C (p.Arg346Pro) c.656G>C (p.Arg219Pro) | |
| X | g.85956219C>T | CA10465471 | CHM | c.1100G>A (p.Arg367Gln) n.126+71272G>A c.1037G>A (p.Arg346Gln) c.656G>A (p.Arg219Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85956220G>A | CA10465473 | CHM | c.1099C>T (p.Arg367Trp) n.126+71271C>T c.1036C>T (p.Arg346Trp) c.655C>T (p.Arg219Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85956220G>C | CA413784989 | CHM | c.1099C>G (p.Arg367Gly) n.126+71271C>G c.1036C>G (p.Arg346Gly) c.655C>G (p.Arg219Gly) | |
| X | g.85956220G= | CA2442478026 | CHM | c.1099C= (p.Arg367=) n.126+71271C= c.1036C= (p.Arg346=) c.655C= (p.Arg219=) | |
| X | g.85956220G>T | CA517490958 | CHM | c.1099C>A (p.Arg367=) n.126+71271C>A c.1036C>A (p.Arg346=) c.655C>A (p.Arg219=) | |
| X | g.85956220_85956221insGTAG | CA2695234668 | CHM | c.1099_1100insTACC (p.Arg367LeufsTer?) n.126+71271_126+71272insTACC c.1036_1037insTACC (p.Arg346LeufsTer?) c.655_656insTACC (p.Arg219LeufsTer?) | |
| X | g.85956221C>A | CA517490959 | CHM | c.1098G>T (p.Gly366=) n.126+71270G>T c.1035G>T (p.Gly345=) c.654G>T (p.Gly218=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.85956221C= | CA2442478027 | CHM | c.1098G= (p.Gly366=) n.126+71270G= c.1035G= (p.Gly345=) c.654G= (p.Gly218=) | |
| X | g.85956221C>G | CA517490960 | CHM | c.1098G>C (p.Gly366=) n.126+71270G>C c.1035G>C (p.Gly345=) c.654G>C (p.Gly218=) | |
| X | g.85956221C>T | CA517490961 | CHM | c.1098G>A (p.Gly366=) n.126+71270G>A c.1035G>A (p.Gly345=) c.654G>A (p.Gly218=) | |
| X | g.85956223del | CA2579655987 | CHM | c.1098del (p.Arg367GlyfsTer?) n.126+71270del c.1035del (p.Arg346GlyfsTer?) c.654del (p.Arg219GlyfsTer?) | |
| X | g.85956222C>A | CA413784991 | CHM | c.1097G>T (p.Gly366Val) n.126+71269G>T c.1034G>T (p.Gly345Val) c.653G>T (p.Gly218Val) | |
| X | g.85956222C>G | CA413784993 | CHM | c.1097G>C (p.Gly366Ala) n.126+71269G>C c.1034G>C (p.Gly345Ala) c.653G>C (p.Gly218Ala) | |
| X | g.85956222C>T | CA413784992 | CHM | c.1097G>A (p.Gly366Glu) n.126+71269G>A c.1034G>A (p.Gly345Glu) c.653G>A (p.Gly218Glu) | |
| X | g.85956223C>A | CA413784995 | CHM | c.1096G>T (p.Gly366Trp) n.126+71268G>T c.1033G>T (p.Gly345Trp) c.652G>T (p.Gly218Trp) | dbSNP |