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 |
|---|---|---|---|---|---|
| 22 | g.38298898A>C | CA411523943 | CSNK1E,TPTEP2-CSNK1E | c.773T>G (p.Leu258Arg) c.567T>G c.248T>G c.168T>G c.586T>G n.208T>G n.567T>G | |
| 22 | g.38298898A>G | CA411523945 | CSNK1E,TPTEP2-CSNK1E | c.773T>C (p.Leu258Pro) c.567T>C c.248T>C c.168T>C c.586T>C n.208T>C n.567T>C | |
| 22 | g.38298898A>T | CA411523947 | CSNK1E,TPTEP2-CSNK1E | c.773T>A (p.Leu258Gln) c.567T>A c.248T>A c.168T>A c.586T>A n.208T>A n.567T>A | |
| 22 | g.38298899G>A | CA514550877 | CSNK1E,TPTEP2-CSNK1E | c.772C>T (p.Leu258=) c.566C>T c.247C>T c.167C>T c.585C>T n.207C>T n.566C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.38298899G>C | CA411523951 | CSNK1E,TPTEP2-CSNK1E | c.772C>G (p.Leu258Val) c.566C>G c.247C>G c.167C>G c.585C>G n.207C>G n.566C>G | |
| 22 | g.38298899G= | CA2404755961 | CSNK1E,TPTEP2-CSNK1E | c.772C= (p.Leu258=) c.566C= c.247C= c.167C= c.585C= n.207C= n.566C= | |
| 22 | g.38298899G>T | CA411523949 | CSNK1E,TPTEP2-CSNK1E | c.772C>A (p.Leu258Met) c.566C>A c.247C>A c.167C>A c.585C>A n.207C>A n.566C>A | |
| 22 | g.38298900G>A | CA514550881 | CSNK1E,TPTEP2-CSNK1E | c.771C>T (p.Ser257=) c.565C>T c.246C>T c.166C>T c.584C>T n.206C>T n.565C>T | |
| 22 | g.38298900G>C | CA514550883 | CSNK1E,TPTEP2-CSNK1E | c.771C>G (p.Ser257=) c.565C>G c.246C>G c.166C>G c.584C>G n.206C>G n.565C>G | |
| 22 | g.38298900G>T | CA514550885 | CSNK1E,TPTEP2-CSNK1E | c.771C>A (p.Ser257=) c.565C>A c.246C>A c.166C>A c.584C>A n.206C>A n.565C>A | |
| 22 | g.38298901G>A | CA411523954 | CSNK1E,TPTEP2-CSNK1E | c.770C>T (p.Ser257Phe) c.564C>T c.245C>T c.165C>T c.583C>T n.205C>T n.564C>T | |
| 22 | g.38298901G>C | CA411523955 | CSNK1E,TPTEP2-CSNK1E | c.770C>G (p.Ser257Cys) c.564C>G c.245C>G c.165C>G c.583C>G n.205C>G n.564C>G | |
| 22 | g.38298901G>T | CA411523957 | CSNK1E,TPTEP2-CSNK1E | c.770C>A (p.Ser257Tyr) c.564C>A c.245C>A c.165C>A c.583C>A n.205C>A n.564C>A | |
| 22 | g.38298902A= | CA2404755962 | CSNK1E,TPTEP2-CSNK1E | c.769T= (p.Ser257=) c.563T= c.244T= c.164T= c.582T= n.204T= n.563T= | |
| 22 | g.38298902A>C | CA411523960 | CSNK1E,TPTEP2-CSNK1E | c.769T>G (p.Ser257Ala) c.563T>G c.244T>G c.164T>G c.582T>G n.204T>G n.563T>G | dbSNP gnomAD v2 |
| 22 | g.38298902A>G | CA411523961 | CSNK1E,TPTEP2-CSNK1E | c.769T>C (p.Ser257Pro) c.563T>C c.244T>C c.164T>C c.582T>C n.204T>C n.563T>C | COSMIC COSMIC COSMIC |
| 22 | g.38298902A>T | CA411523964 | CSNK1E,TPTEP2-CSNK1E | c.769T>A (p.Ser257Thr) c.563T>A c.244T>A c.164T>A c.582T>A n.204T>A n.563T>A | |
| 22 | g.38298903G>A | CA514550893 | CSNK1E,TPTEP2-CSNK1E | c.768C>T (p.Arg256=) c.562C>T c.243C>T c.163C>T c.581C>T n.203C>T n.562C>T | |
| 22 | g.38298903G>C | CA514550894 | CSNK1E,TPTEP2-CSNK1E | c.768C>G (p.Arg256=) c.562C>G c.243C>G c.163C>G c.581C>G n.203C>G n.562C>G | |
| 22 | g.38298903G>T | CA514550895 | CSNK1E,TPTEP2-CSNK1E | c.768C>A (p.Arg256=) c.562C>A c.243C>A c.163C>A c.581C>A n.203C>A n.562C>A | |
| 22 | g.38298904C>A | CA411523969 | CSNK1E,TPTEP2-CSNK1E | c.767G>T (p.Arg256Leu) c.561G>T c.242G>T c.162G>T c.580G>T n.202G>T n.561G>T | COSMIC COSMIC COSMIC |
| 22 | g.38298904C= | CA2404755963 | CSNK1E,TPTEP2-CSNK1E | c.767G= (p.Arg256=) c.561G= c.242G= c.162G= c.580G= n.202G= n.561G= | |
| 22 | g.38298904C>G | CA411523966 | CSNK1E,TPTEP2-CSNK1E | c.767G>C (p.Arg256Pro) c.561G>C c.242G>C c.162G>C c.580G>C n.202G>C n.561G>C | |
| 22 | g.38298904C>T | CA10232186 | CSNK1E,TPTEP2-CSNK1E | c.767G>A (p.Arg256His) c.561G>A c.242G>A c.162G>A c.580G>A n.202G>A n.561G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38298905G>A | CA411523970 | CSNK1E,TPTEP2-CSNK1E | c.766C>T (p.Arg256Cys) c.560C>T c.241C>T c.161C>T c.579C>T n.201C>T n.560C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.38298905G>C | CA411523972 | CSNK1E,TPTEP2-CSNK1E | c.766C>G (p.Arg256Gly) c.560C>G c.241C>G c.161C>G c.579C>G n.201C>G n.560C>G | |
| 22 | g.38298905G= | CA2404755964 | CSNK1E,TPTEP2-CSNK1E | c.766C= (p.Arg256=) c.560C= c.241C= c.161C= c.579C= n.201C= n.560C= | |
| 22 | g.38298905G>T | CA411523973 | CSNK1E,TPTEP2-CSNK1E | c.766C>A (p.Arg256Ser) c.560C>A c.241C>A c.161C>A c.579C>A n.201C>A n.560C>A | COSMIC COSMIC COSMIC COSMIC |
| 22 | g.38298906G>A | CA514550907 | CSNK1E,TPTEP2-CSNK1E | c.765C>T (p.Cys255=) c.559C>T c.240C>T c.160C>T c.578C>T n.200C>T n.559C>T | gnomAD v4 |
| 22 | g.38298906G>C | CA411523976 | CSNK1E,TPTEP2-CSNK1E | c.765C>G (p.Cys255Trp) c.559C>G c.240C>G c.160C>G c.578C>G n.200C>G n.559C>G | |
| 22 | g.38298906G>T | CA411523977 | CSNK1E,TPTEP2-CSNK1E | c.765C>A (p.Cys255Ter) c.559C>A c.240C>A c.160C>A c.578C>A n.200C>A n.559C>A | |
| 22 | g.38298907C>A | CA411523979 | CSNK1E,TPTEP2-CSNK1E | c.764G>T (p.Cys255Phe) c.558G>T c.239G>T c.159G>T c.577G>T n.199G>T n.558G>T | |
| 22 | g.38298907C>G | CA411523983 | CSNK1E,TPTEP2-CSNK1E | c.764G>C (p.Cys255Ser) c.558G>C c.239G>C c.159G>C c.577G>C n.199G>C n.558G>C | |
| 22 | g.38298907C>T | CA411523981 | CSNK1E,TPTEP2-CSNK1E | c.764G>A (p.Cys255Tyr) c.558G>A c.239G>A c.159G>A c.577G>A n.199G>A n.558G>A | |
| 22 | g.38298907_38298908insTTTGTGGTGCGTATTTGGCTGCGGCGGCAACCGCGACCGCGGCAAACGCCCGCTGATGGGCGCAGCAGCCGTACAGGGCGCAGATAAAGTCGTCGTAACCAGCGACAACCCGCGTTTGGAAAATCCGCG | CA2571470793 | CSNK1E,TPTEP2-CSNK1E | c.763_764insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA (p.Cys255delinsSerArgIlePheGlnThrArgValValAlaGlyTyrAspAspPheIleCysAlaLeuTyrGlyCysCysAlaHisGlnArgAlaPheAlaAlaValAlaValAlaAlaAlaAlaLysTyrAlaProGlnSer) c.557_558insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA c.238_239insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA c.158_159insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA c.576_577insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA n.198_199insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA n.557_558insCGCGGATTTTCCAAACGCGGGTTGTCGCTGGTTACGACGACTTTATCTGCGCCCTGTACGGCTGCTGCGCCCATCAGCGGGCGTTTGCCGCGGTCGCGGTTGCCGCCGCAGCCAAATACGCACCACAAA | |
| 22 | g.38298908A>C | CA411523985 | CSNK1E,TPTEP2-CSNK1E | c.763T>G (p.Cys255Gly) c.557T>G c.238T>G c.158T>G c.576T>G n.198T>G n.557T>G | |
| 22 | g.38298908A>G | CA411523987 | CSNK1E,TPTEP2-CSNK1E | c.763T>C (p.Cys255Arg) c.557T>C c.238T>C c.158T>C c.576T>C n.198T>C n.557T>C | |
| 22 | g.38298908A>T | CA411523989 | CSNK1E,TPTEP2-CSNK1E | c.763T>A (p.Cys255Ser) c.557T>A c.238T>A c.158T>A c.576T>A n.198T>A n.557T>A | |
| 22 | g.38298909G>A | CA514550916 | CSNK1E,TPTEP2-CSNK1E | c.762C>T (p.Phe254=) c.556C>T c.237C>T c.157C>T c.575C>T n.197C>T n.556C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.38298909G>C | CA411523991 | CSNK1E,TPTEP2-CSNK1E | c.762C>G (p.Phe254Leu) c.556C>G c.237C>G c.157C>G c.575C>G n.197C>G n.556C>G | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.38298909G= | CA2404755965 | CSNK1E,TPTEP2-CSNK1E | c.762C= (p.Phe254=) c.556C= c.237C= c.157C= c.575C= n.197C= n.556C= | |
| 22 | g.38298909G>T | CA411523993 | CSNK1E,TPTEP2-CSNK1E | c.762C>A (p.Phe254Leu) c.556C>A c.237C>A c.157C>A c.575C>A n.197C>A n.556C>A | |
| 22 | g.38298910A= | CA2404755966 | CSNK1E,TPTEP2-CSNK1E | c.761T= (p.Phe254=) c.555T= c.236T= c.156T= c.574T= n.196T= n.555T= | |
| 22 | g.38298910A>C | CA411523995 | CSNK1E,TPTEP2-CSNK1E | c.761T>G (p.Phe254Cys) c.555T>G c.236T>G c.156T>G c.574T>G n.196T>G n.555T>G | |
| 22 | g.38298910A>G | CA411523997 | CSNK1E,TPTEP2-CSNK1E | c.761T>C (p.Phe254Ser) c.555T>C c.236T>C c.156T>C c.574T>C n.196T>C n.555T>C | dbSNP |
| 22 | g.38298910A>T | CA411523999 | CSNK1E,TPTEP2-CSNK1E | c.761T>A (p.Phe254Tyr) c.555T>A c.236T>A c.156T>A c.574T>A n.196T>A n.555T>A | |
| 22 | g.38298911A>C | CA411524001 | CSNK1E,TPTEP2-CSNK1E | c.760T>G (p.Phe254Val) c.554T>G c.235T>G c.155T>G c.573T>G n.195T>G n.554T>G | |
| 22 | g.38298911A>G | CA411524003 | CSNK1E,TPTEP2-CSNK1E | c.760T>C (p.Phe254Leu) c.554T>C c.235T>C c.155T>C c.573T>C n.195T>C n.554T>C | |
| 22 | g.38298911A>T | CA411524005 | CSNK1E,TPTEP2-CSNK1E | c.760T>A (p.Phe254Ile) c.554T>A c.235T>A c.155T>A c.573T>A n.195T>A n.554T>A | |
| 22 | g.38298912G>A | CA514550926 | CSNK1E,TPTEP2-CSNK1E | c.759C>T (p.Asn253=) c.553C>T c.234C>T c.154C>T c.572C>T n.194C>T n.553C>T |