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.149486993_149487012del | CA2695236510 | IDS | c.1096_1115del (p.Arg366GlyfsTer13) c.463_482del (p.Arg155GlyfsTer13) n.203_222del c.826_845del (p.Arg276GlyfsTer13) | |
| X | g.149487006T>A | CA414518836 | IDS | c.1099A>T (p.Thr367Ser) c.466A>T (p.Thr156Ser) n.206A>T c.829A>T (p.Thr277Ser) | ClinVar dbSNP |
| X | g.149487006T>C | CA414518835 | IDS | c.1099A>G (p.Thr367Ala) c.466A>G (p.Thr156Ala) n.206A>G c.829A>G (p.Thr277Ala) | |
| X | g.149487006T>G | CA414518834 | IDS | c.1099A>C (p.Thr367Pro) c.466A>C (p.Thr156Pro) n.206A>C c.829A>C (p.Thr277Pro) | |
| X | g.149487006T= | CA2465005574 | IDS | c.1099A= (p.Thr367=) c.466A= (p.Thr156=) n.206A= c.829A= (p.Thr277=) | |
| X | g.149487007C>A | CA414518837 | IDS | c.1098G>T (p.Arg366Ser) c.465G>T (p.Arg155Ser) n.205G>T c.828G>T (p.Arg276Ser) | |
| X | g.149487007C>G | CA414518838 | IDS | c.1098G>C (p.Arg366Ser) c.465G>C (p.Arg155Ser) n.205G>C c.828G>C (p.Arg276Ser) | |
| X | g.149487007C>T | CA519057582 | IDS | c.1098G>A (p.Arg366=) c.465G>A (p.Arg155=) n.205G>A c.828G>A (p.Arg276=) | |
| X | g.149487008C>A | CA414518839 | IDS | c.1097G>T (p.Arg366Met) c.464G>T (p.Arg155Met) n.204G>T c.827G>T (p.Arg276Met) | |
| X | g.149487008C>G | CA414518841 | IDS | c.1097G>C (p.Arg366Thr) c.464G>C (p.Arg155Thr) n.204G>C c.827G>C (p.Arg276Thr) | |
| X | g.149487008C>T | CA414518840 | IDS | c.1097G>A (p.Arg366Lys) c.464G>A (p.Arg155Lys) n.204G>A c.827G>A (p.Arg276Lys) | COSMIC |
| X | g.149487009T>A | CA414518842 | IDS | c.1096A>T (p.Arg366Trp) c.463A>T (p.Arg155Trp) n.203A>T c.826A>T (p.Arg276Trp) | |
| X | g.149487009T>C | CA414518843 | IDS | c.1096A>G (p.Arg366Gly) c.463A>G (p.Arg155Gly) n.203A>G c.826A>G (p.Arg276Gly) | |
| X | g.149487009T>G | CA519057583 | IDS | c.1096A>C (p.Arg366=) c.463A>C (p.Arg155=) n.203A>C c.826A>C (p.Arg276=) | |
| X | g.149487010T>A | CA519057584 | IDS | c.1095A>T (p.Gly365=) c.462A>T (p.Gly154=) n.202A>T c.825A>T (p.Gly275=) | |
| X | g.149487010T>C | CA519057585 | IDS | c.1095A>G (p.Gly365=) c.462A>G (p.Gly154=) n.202A>G c.825A>G (p.Gly275=) | |
| X | g.149487010T>G | CA519057586 | IDS | c.1095A>C (p.Gly365=) c.462A>C (p.Gly154=) n.202A>C c.825A>C (p.Gly275=) | |
| X | g.149487011C>A | CA414518844 | IDS | c.1094G>T (p.Gly365Val) c.461G>T (p.Gly154Val) n.201G>T c.824G>T (p.Gly275Val) | COSMIC |
| X | g.149487011C>G | CA414518845 | IDS | c.1094G>C (p.Gly365Ala) c.461G>C (p.Gly154Ala) n.201G>C c.824G>C (p.Gly275Ala) | |
| X | g.149487011C>T | CA414518846 | IDS | c.1094G>A (p.Gly365Glu) c.461G>A (p.Gly154Glu) n.201G>A c.824G>A (p.Gly275Glu) | COSMIC |
| X | g.149487012C>A | CA414518847 | IDS | c.1093G>T (p.Gly365Ter) c.460G>T (p.Gly154Ter) n.200G>T c.823G>T (p.Gly275Ter) | |
| X | g.149487012C= | CA2465005575 | IDS | c.1093G= (p.Gly365=) c.460G= (p.Gly154=) n.200G= c.823G= (p.Gly275=) | |
| X | g.149487012C>G | CA414518848 | IDS | c.1093G>C (p.Gly365Arg) c.460G>C (p.Gly154Arg) n.200G>C c.823G>C (p.Gly275Arg) | |
| X | g.149487012C>T | CA414518849 | IDS | c.1093G>A (p.Gly365Arg) c.460G>A (p.Gly154Arg) n.200G>A c.823G>A (p.Gly275Arg) | dbSNP |
| X | g.149487013A>C | CA519057589 | IDS | c.1092T>G (p.Pro364=) c.459T>G (p.Pro153=) n.199T>G c.822T>G (p.Pro274=) | |
| X | g.149487013A>G | CA519057588 | IDS | c.1092T>C (p.Pro364=) c.459T>C (p.Pro153=) n.199T>C c.822T>C (p.Pro274=) | |
| X | g.149487013A>T | CA519057587 | IDS | c.1092T>A (p.Pro364=) c.459T>A (p.Pro153=) n.199T>A c.822T>A (p.Pro274=) | |
| X | g.149487014G>A | CA414518850 | IDS | c.1091C>T (p.Pro364Leu) c.458C>T (p.Pro153Leu) n.198C>T c.821C>T (p.Pro274Leu) | |
| X | g.149487014G>C | CA414518851 | IDS | c.1091C>G (p.Pro364Arg) c.458C>G (p.Pro153Arg) n.198C>G c.821C>G (p.Pro274Arg) | |
| X | g.149487014G>T | CA414518852 | IDS | c.1091C>A (p.Pro364His) c.458C>A (p.Pro153His) n.198C>A c.821C>A (p.Pro274His) | |
| X | g.149487015G>A | CA414518853 | IDS | c.1090C>T (p.Pro364Ser) c.457C>T (p.Pro153Ser) n.197C>T c.820C>T (p.Pro274Ser) | ClinVar dbSNP |
| X | g.149487015G>C | CA414518854 | IDS | c.1090C>G (p.Pro364Ala) c.457C>G (p.Pro153Ala) n.197C>G c.820C>G (p.Pro274Ala) | ClinVar |
| X | g.149487015G>T | CA414518855 | IDS | c.1090C>A (p.Pro364Thr) c.457C>A (p.Pro153Thr) n.197C>A c.820C>A (p.Pro274Thr) | |
| X | g.149487016A= | CA2465005576 | IDS | c.1089T= (p.Val363=) c.456T= (p.Val152=) n.196T= c.819T= (p.Val273=) | |
| X | g.149487016A>C | CA519057590 | IDS | c.1089T>G (p.Val363=) c.456T>G (p.Val152=) n.196T>G c.819T>G (p.Val273=) | |
| X | g.149487016A>G | CA519057591 | IDS | c.1089T>C (p.Val363=) c.456T>C (p.Val152=) n.196T>C c.819T>C (p.Val273=) | ClinVar dbSNP |
| X | g.149487016A>T | CA519057592 | IDS | c.1089T>A (p.Val363=) c.456T>A (p.Val152=) n.196T>A c.819T>A (p.Val273=) | |
| X | g.149487017A>C | CA414518858 | IDS | c.1088T>G (p.Val363Gly) c.455T>G (p.Val152Gly) n.195T>G c.818T>G (p.Val273Gly) | |
| X | g.149487017A>G | CA414518856 | IDS | c.1088T>C (p.Val363Ala) c.455T>C (p.Val152Ala) n.195T>C c.818T>C (p.Val273Ala) | |
| X | g.149487017A>T | CA414518857 | IDS | c.1088T>A (p.Val363Asp) c.455T>A (p.Val152Asp) n.195T>A c.818T>A (p.Val273Asp) | |
| X | g.149487018C>A | CA414518859 | IDS | c.1087G>T (p.Val363Phe) c.454G>T (p.Val152Phe) n.194G>T c.817G>T (p.Val273Phe) | |
| X | g.149487018C>G | CA414518860 | IDS | c.1087G>C (p.Val363Leu) c.454G>C (p.Val152Leu) n.194G>C c.817G>C (p.Val273Leu) | |
| X | g.149487018C>T | CA414518861 | IDS | c.1087G>A (p.Val363Ile) c.454G>A (p.Val152Ile) n.194G>A c.817G>A (p.Val273Ile) | |
| X | g.149487019A>C | CA414518862 | IDS | c.1086T>G (p.Tyr362Ter) c.453T>G (p.Tyr151Ter) n.193T>G c.816T>G (p.Tyr272Ter) | |
| X | g.149487019A>G | CA519057593 | IDS | c.1086T>C (p.Tyr362=) c.453T>C (p.Tyr151=) n.193T>C c.816T>C (p.Tyr272=) | gnomAD v4 |
| X | g.149487019A>T | CA414518863 | IDS | c.1086T>A (p.Tyr362Ter) c.453T>A (p.Tyr151Ter) n.193T>A c.816T>A (p.Tyr272Ter) | |
| X | g.149487020T>A | CA414518864 | IDS | c.1085A>T (p.Tyr362Phe) c.452A>T (p.Tyr151Phe) n.192A>T c.815A>T (p.Tyr272Phe) | |
| X | g.149487020T>C | CA10537503 | IDS | c.1085A>G (p.Tyr362Cys) c.452A>G (p.Tyr151Cys) n.192A>G c.815A>G (p.Tyr272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487020T>G | CA414518865 | IDS | c.1085A>C (p.Tyr362Ser) c.452A>C (p.Tyr151Ser) n.192A>C c.815A>C (p.Tyr272Ser) | |
| X | g.149487020T= | CA2465005577 | IDS | c.1085A= (p.Tyr362=) c.452A= (p.Tyr151=) n.192A= c.815A= (p.Tyr272=) |