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 |
|---|---|---|---|---|---|
| 1 | g.15445687_15445711delinsAACACCCGCAAGAAGCCGGTAGTCT | CA1155328657 | CTRC | c.730_754delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Asn244=) c.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT (n.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT) n.494_518delinsAACACCCGCAAGAAGCCGGTAGTCT c.584_608delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Gln195=) | |
| 1 | g.15445688_15445718delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG | CA1144232719 | CTRC | c.731_761delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Asn244=) c.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (n.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG) n.495_525delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG c.585_615delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Gln195=) | |
| 1 | g.15445695_15445718del | CA345648 | CTRC | c.738_761del (p.Lys247_Arg254del) c.*192_*215del (n.*192_*215del) n.502_525del c.592_615del (p.Gln198_Pro205del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15445699A>C | CA338567880 | CTRC | c.742A>C (p.Lys248Gln) c.*196A>C (n.*196A>C) n.506A>C c.596A>C (p.Glu199Ala) | |
| 1 | g.15445699A>G | CA338567881 | CTRC | c.742A>G (p.Lys248Glu) c.*196A>G (n.*196A>G) n.506A>G c.596A>G (p.Glu199Gly) | ClinVar |
| 1 | g.15445699A>T | CA338567882 | CTRC | c.742A>T (p.Lys248Ter) c.*196A>T (n.*196A>T) n.506A>T c.596A>T (p.Glu199Val) | |
| 1 | g.15445700A>C | CA338567883 | CTRC | c.743A>C (p.Lys248Thr) c.*197A>C (n.*197A>C) n.507A>C c.597A>C (p.Glu199Asp) | |
| 1 | g.15445700A>G | CA338567884 | CTRC | c.743A>G (p.Lys248Arg) c.*197A>G (n.*197A>G) n.507A>G c.597A>G (p.Glu199=) | gnomAD v4 |
| 1 | g.15445700A>T | CA338567885 | CTRC | c.743A>T (p.Lys248Met) c.*197A>T (n.*197A>T) n.507A>T c.597A>T (p.Glu199Asp) | |
| 1 | g.15445701G>A | CA416207406 | CTRC | c.744G>A (p.Lys248=) c.*198G>A (n.*198G>A) n.508G>A c.598G>A (p.Ala200Thr) | ClinVar gnomAD v4 |
| 1 | g.15445701G>C | CA338567886 | CTRC | c.744G>C (p.Lys248Asn) c.*198G>C (n.*198G>C) n.508G>C c.598G>C (p.Ala200Pro) | |
| 1 | g.15445701G>T | CA338567887 | CTRC | c.744G>T (p.Lys248Asn) c.*198G>T (n.*198G>T) n.508G>T c.598G>T (p.Ala200Ser) | |
| 1 | g.15445702C>A | CA338567890 | CTRC | c.745C>A (p.Pro249Thr) c.*199C>A (n.*199C>A) n.509C>A c.599C>A (p.Ala200Asp) | |
| 1 | g.15445702C>G | CA338567889 | CTRC | c.745C>G (p.Pro249Ala) c.*199C>G (n.*199C>G) n.509C>G c.599C>G (p.Ala200Gly) | |
| 1 | g.15445702C>T | CA338567888 | CTRC | c.745C>T (p.Pro249Ser) c.*199C>T (n.*199C>T) n.509C>T c.599C>T (p.Ala200Val) | ClinVar gnomAD v4 |
| 1 | g.15445703C>A | CA338567891 | CTRC | c.746C>A (p.Pro249Gln) c.*200C>A (n.*200C>A) n.510C>A c.600C>A (p.Ala200=) | |
| 1 | g.15445703C= | CA1141874374 | CTRC | c.746C= (p.Pro249=) c.*200C= (n.*200C=) n.510C= c.600C= (p.Ala200=) | |
| 1 | g.15445703C>G | CA338567892 | CTRC | c.746C>G (p.Pro249Arg) c.*200C>G (n.*200C>G) n.510C>G c.600C>G (p.Ala200=) | gnomAD v4 |
| 1 | g.15445703C>T | CA613459 | CTRC | c.746C>T (p.Pro249Leu) c.*200C>T (n.*200C>T) n.510C>T c.600C>T (p.Ala200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15445704G>A | CA613460 | CTRC | c.747G>A (p.Pro249=) c.*201G>A (n.*201G>A) n.511G>A c.601G>A (p.Gly201Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15445704G>C | CA416207410 | CTRC | c.747G>C (p.Pro249=) c.*201G>C (n.*201G>C) n.511G>C c.601G>C (p.Gly201Arg) | |
| 1 | g.15445704G= | CA1142342038 | CTRC | c.747G= (p.Pro249=) c.*201G= (n.*201G=) n.511G= c.601G= (p.Gly201=) | |
| 1 | g.15445704G>T | CA416207412 | CTRC | c.747G>T (p.Pro249=) c.*201G>T (n.*201G>T) n.511G>T c.601G>T (p.Gly201Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15445705G>A | CA338567893 | CTRC | c.748G>A (p.Val250Ile) c.*202G>A (n.*202G>A) n.512G>A c.602G>A (p.Gly201Asp) | |
| 1 | g.15445705G>C | CA338567894 | CTRC | c.748G>C (p.Val250Leu) c.*202G>C (n.*202G>C) n.512G>C c.602G>C (p.Gly201Ala) | |
| 1 | g.15445705G>T | CA338567895 | CTRC | c.748G>T (p.Val250Leu) c.*202G>T (n.*202G>T) n.512G>T c.602G>T (p.Gly201Val) | COSMIC |
| 1 | g.15445706T>A | CA338567896 | CTRC | c.749T>A (p.Val250Glu) c.*203T>A (n.*203T>A) n.513T>A c.603T>A (p.Gly201=) | |
| 1 | g.15445706T>C | CA338567897 | CTRC | c.749T>C (p.Val250Ala) c.*203T>C (n.*203T>C) n.513T>C c.603T>C (p.Gly201=) | |
| 1 | g.15445706T>G | CA338567898 | CTRC | c.749T>G (p.Val250Gly) c.*203T>G (n.*203T>G) n.513T>G c.603T>G (p.Gly201=) | |
| 1 | g.15445707A>C | CA416207414 | CTRC | c.750A>C (p.Val250=) c.*204A>C (n.*204A>C) n.514A>C c.604A>C (p.Ser202Arg) | |
| 1 | g.15445707A>G | CA416207415 | CTRC | c.750A>G (p.Val250=) c.*204A>G (n.*204A>G) n.514A>G c.604A>G (p.Ser202Gly) | |
| 1 | g.15445707A>T | CA416207416 | CTRC | c.750A>T (p.Val250=) c.*204A>T (n.*204A>T) n.514A>T c.604A>T (p.Ser202Cys) | ClinVar |
| 1 | g.15445708G>A | CA338567899 | CTRC | c.751G>A (p.Val251Ile) c.*205G>A (n.*205G>A) n.515G>A c.605G>A (p.Ser202Asn) | |
| 1 | g.15445708G>C | CA338567900 | CTRC | c.751G>C (p.Val251Leu) c.*205G>C (n.*205G>C) n.515G>C c.605G>C (p.Ser202Thr) | dbSNP |
| 1 | g.15445708G= | CA1155328716 | CTRC | c.751G= (p.Val251=) c.*205G= (n.*205G=) n.515G= c.605G= (p.Ser202=) | |
| 1 | g.15445708G>T | CA338567901 | CTRC | c.751G>T (p.Val251Phe) c.*205G>T (n.*205G>T) n.515G>T c.605G>T (p.Ser202Ile) | |
| 1 | g.15445709T>A | CA338567903 | CTRC | c.752T>A (p.Val251Asp) c.*206T>A (n.*206T>A) n.516T>A c.606T>A (p.Ser202Arg) | |
| 1 | g.15445709T>C | CA338567904 | CTRC | c.752T>C (p.Val251Ala) c.*206T>C (n.*206T>C) n.516T>C c.606T>C (p.Ser202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15445709T>G | CA338567902 | CTRC | c.752T>G (p.Val251Gly) c.*206T>G (n.*206T>G) n.516T>G c.606T>G (p.Ser202Arg) | |
| 1 | g.15445709T= | CA1155328726 | CTRC | c.752T= (p.Val251=) c.*206T= (n.*206T=) n.516T= c.606T= (p.Ser202=) | |
| 1 | g.15445710_15445711insAACACCCGCAAGAAGCCGGTACTC | CA521458357 | CTRC | c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu) c.*207_*208insAACACCCGCAAGAAGCCGGTACTC (n.*207_*208insAACACCCGCAAGAAGCCGGTACTC) n.517_518insAACACCCGCAAGAAGCCGGTACTC c.607_608insAACACCCGCAAGAAGCCGGTACTC (p.Ser202_Leu203insGlnHisProGlnGluAlaGlyThr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15445710C>A | CA416207418 | CTRC | c.753C>A (p.Val251=) c.*207C>A (n.*207C>A) n.517C>A c.607C>A (p.Leu203Ile) | ClinVar |
| 1 | g.15445710C= | CA1155328731 | CTRC | c.753C= (p.Val251=) c.*207C= (n.*207C=) n.517C= c.607C= (p.Leu203=) | |
| 1 | g.15445710C>G | CA416207419 | CTRC | c.753C>G (p.Val251=) c.*207C>G (n.*207C>G) n.517C>G c.607C>G (p.Leu203Val) | ClinVar dbSNP |
| 1 | g.15445710C>T | CA416207420 | CTRC | c.753C>T (p.Val251=) c.*207C>T (n.*207C>T) n.517C>T c.607C>T (p.Leu203=) | |
| 1 | g.15445711T>A | CA338567905 | CTRC | c.754T>A (p.Tyr252Asn) c.*208T>A (n.*208T>A) n.518T>A c.608T>A (p.Leu203Gln) | dbSNP |
| 1 | g.15445711T>C | CA338567906 | CTRC | c.754T>C (p.Tyr252His) c.*208T>C (n.*208T>C) n.518T>C c.608T>C (p.Leu203Pro) | |
| 1 | g.15445711T>G | CA338567907 | CTRC | c.754T>G (p.Tyr252Asp) c.*208T>G (n.*208T>G) n.518T>G c.608T>G (p.Leu203Arg) | |
| 1 | g.15445711T= | CA1155328734 | CTRC | c.754T= (p.Tyr252=) c.*208T= (n.*208T=) n.518T= c.608T= (p.Leu203=) | |
| 1 | g.15445712A= | CA1141324183 | CTRC | c.755A= (p.Tyr252=) c.*209A= (n.*209A=) n.519A= c.609A= (p.Leu203=) |