WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.90404406G>A | CA16606883 | CALM1 | c.313G>A (p.Glu105Lys) c.205G>A (p.Glu69Lys) c.316G>A (p.Glu106Lys) c.185G>A (p.Arg62Lys) c.206G>A (p.Arg69Lys) n.2443G>A n.365G>A n.239G>A c.166-51G>A (n.166-51G>A) | ClinVar dbSNP |
| 14 | g.90404406G>C | CA390690160 | CALM1 | c.313G>C (p.Glu105Gln) c.205G>C (p.Glu69Gln) c.316G>C (p.Glu106Gln) c.185G>C (p.Arg62Thr) c.206G>C (p.Arg69Thr) n.2443G>C n.365G>C n.239G>C c.166-51G>C (n.166-51G>C) | |
| 14 | g.90404406G= | CA2154484088 | CALM1 | c.313G= (p.Glu105=) c.205G= (p.Glu69=) c.316G= (p.Glu106=) c.185G= (p.Arg62=) c.206G= (p.Arg69=) n.2443G= n.365G= n.239G= c.166-51G= (n.166-51G=) | |
| 14 | g.90404406G>T | CA390690161 | CALM1 | c.313G>T (p.Glu105Ter) c.205G>T (p.Glu69Ter) c.316G>T (p.Glu106Ter) c.185G>T (p.Arg62Ile) c.206G>T (p.Arg69Ile) n.2443G>T n.365G>T n.239G>T c.166-51G>T (n.166-51G>T) | |
| 14 | g.90404406_90404407delinsAC | CA2579770890 | CALM1 | c.313_314delinsAC (p.Glu105Thr) c.205_206delinsAC (p.Glu69Thr) c.316_317delinsAC (p.Glu106Thr) c.185_186delinsAC (p.Arg62Asn) c.206_207delinsAC (p.Arg69Asn) n.2443_2444delinsAC n.365_366delinsAC n.239_240delinsAC c.166-51_166-50delinsAC (n.166-51_166-50delinsAC) | |
| 14 | g.90404406_90404407delinsAG | CA2579774025 | CALM1 | c.313_314delinsAG (p.Glu105Arg) c.205_206delinsAG (p.Glu69Arg) c.316_317delinsAG (p.Glu106Arg) c.185_186delinsAG (p.Arg62Lys) c.206_207delinsAG (p.Arg69Lys) n.2443_2444delinsAG n.365_366delinsAG n.239_240delinsAG c.166-51_166-50delinsAG (n.166-51_166-50delinsAG) | |
| 14 | g.90404406_90404407delinsCG | CA2579770273 | CALM1 | c.313_314delinsCG (p.Glu105Arg) c.205_206delinsCG (p.Glu69Arg) c.316_317delinsCG (p.Glu106Arg) c.185_186delinsCG (p.Arg62Thr) c.206_207delinsCG (p.Arg69Thr) n.2443_2444delinsCG n.365_366delinsCG n.239_240delinsCG c.166-51_166-50delinsCG (n.166-51_166-50delinsCG) | |
| 14 | g.90404406_90404407delinsCT | CA2579773418 | CALM1 | c.313_314delinsCT (p.Glu105Leu) c.205_206delinsCT (p.Glu69Leu) c.316_317delinsCT (p.Glu106Leu) c.185_186delinsCT (p.Arg62Thr) c.206_207delinsCT (p.Arg69Thr) n.2443_2444delinsCT n.365_366delinsCT n.239_240delinsCT c.166-51_166-50delinsCT (n.166-51_166-50delinsCT) | |
| 14 | g.90404406_90404407delinsTC | CA2579773306 | CALM1 | c.313_314delinsTC (p.Glu105Ser) c.205_206delinsTC (p.Glu69Ser) c.316_317delinsTC (p.Glu106Ser) c.185_186delinsTC (p.Arg62Ile) c.206_207delinsTC (p.Arg69Ile) n.2443_2444delinsTC n.365_366delinsTC n.239_240delinsTC c.166-51_166-50delinsTC (n.166-51_166-50delinsTC) | |
| 14 | g.90404406_90404407delinsTG | CA2579771480 | CALM1 | c.313_314delinsTG (p.Glu105Ter) c.205_206delinsTG (p.Glu69Ter) c.316_317delinsTG (p.Glu106Ter) c.185_186delinsTG (p.Arg62Met) c.206_207delinsTG (p.Arg69Met) n.2443_2444delinsTG n.365_366delinsTG n.239_240delinsTG c.166-51_166-50delinsTG (n.166-51_166-50delinsTG) | |
| 14 | g.90404406_90404407delinsTT | CA2579769994 | CALM1 | c.313_314delinsTT (p.Glu105Leu) c.205_206delinsTT (p.Glu69Leu) c.316_317delinsTT (p.Glu106Leu) c.185_186delinsTT (p.Arg62Ile) c.206_207delinsTT (p.Arg69Ile) n.2443_2444delinsTT n.365_366delinsTT n.239_240delinsTT c.166-51_166-50delinsTT (n.166-51_166-50delinsTT) | |
| 14 | g.90404406_90404408delinsAAC | CA2579774145 | CALM1 | c.313_315delinsAAC (p.Glu105Asn) c.205_207delinsAAC (p.Glu69Asn) c.316_318delinsAAC (p.Glu106Asn) c.185_187delinsAAC (p.Arg62_Thr63delinsLysPro) c.206_208delinsAAC (p.Arg69_Thr70delinsLysPro) n.2443_2445delinsAAC n.365_367delinsAAC n.239_241delinsAAC c.166-51_166-49delinsAAC (n.166-51_166-49delinsAAC) | |
| 14 | g.90404406_90404408delinsAAG | CA2579769932 | CALM1 | c.313_315delinsAAG (p.Glu105Lys) c.205_207delinsAAG (p.Glu69Lys) c.316_318delinsAAG (p.Glu106Lys) c.185_187delinsAAG (p.Arg62_Thr63delinsLysAla) c.206_208delinsAAG (p.Arg69_Thr70delinsLysAla) n.2443_2445delinsAAG n.365_367delinsAAG n.239_241delinsAAG c.166-51_166-49delinsAAG (n.166-51_166-49delinsAAG) | |
| 14 | g.90404406_90404408delinsCAT | CA2579770899 | CALM1 | c.313_315delinsCAT (p.Glu105His) c.205_207delinsCAT (p.Glu69His) c.316_318delinsCAT (p.Glu106His) c.185_187delinsCAT (p.Arg62_Thr63delinsThrSer) c.206_208delinsCAT (p.Arg69_Thr70delinsThrSer) n.2443_2445delinsCAT n.365_367delinsCAT n.239_241delinsCAT c.166-51_166-49delinsCAT (n.166-51_166-49delinsCAT) | |
| 14 | g.90404406_90404408delinsTAC | CA2579773284 | CALM1 | c.313_315delinsTAC (p.Glu105Tyr) c.205_207delinsTAC (p.Glu69Tyr) c.316_318delinsTAC (p.Glu106Tyr) c.185_187delinsTAC (p.Arg62_Thr63delinsIlePro) c.206_208delinsTAC (p.Arg69_Thr70delinsIlePro) n.2443_2445delinsTAC n.365_367delinsTAC n.239_241delinsTAC c.166-51_166-49delinsTAC (n.166-51_166-49delinsTAC) | |
| 14 | g.90404406_90404408delinsTAG | CA2579773598 | CALM1 | c.313_315delinsTAG (p.Glu105Ter) c.205_207delinsTAG (p.Glu69Ter) c.316_318delinsTAG (p.Glu106Ter) c.185_187delinsTAG (p.Arg62_Thr63delinsIleAla) c.206_208delinsTAG (p.Arg69_Thr70delinsIleAla) n.2443_2445delinsTAG n.365_367delinsTAG n.239_241delinsTAG c.166-51_166-49delinsTAG (n.166-51_166-49delinsTAG) | |
| 14 | g.90404406_90404408delinsTAT | CA2579772572 | CALM1 | c.313_315delinsTAT (p.Glu105Tyr) c.205_207delinsTAT (p.Glu69Tyr) c.316_318delinsTAT (p.Glu106Tyr) c.185_187delinsTAT (p.Arg62_Thr63delinsIleSer) c.206_208delinsTAT (p.Arg69_Thr70delinsIleSer) n.2443_2445delinsTAT n.365_367delinsTAT n.239_241delinsTAT c.166-51_166-49delinsTAT (n.166-51_166-49delinsTAT) | |
| 14 | g.90404406_90404408delinsTTT | CA2579772850 | CALM1 | c.313_315delinsTTT (p.Glu105Phe) c.205_207delinsTTT (p.Glu69Phe) c.316_318delinsTTT (p.Glu106Phe) c.185_187delinsTTT (p.Arg62_Thr63delinsIleSer) c.206_208delinsTTT (p.Arg69_Thr70delinsIleSer) n.2443_2445delinsTTT n.365_367delinsTTT n.239_241delinsTTT c.166-51_166-49delinsTTT (n.166-51_166-49delinsTTT) | |
| 14 | g.90404407A>C | CA390690164 | CALM1 | c.314A>C (p.Glu105Ala) c.206A>C (p.Glu69Ala) c.317A>C (p.Glu106Ala) c.186A>C (p.Arg62Ser) c.207A>C (p.Arg69Ser) n.2444A>C n.366A>C n.240A>C c.166-50A>C (n.166-50A>C) | |
| 14 | g.90404407A>G | CA390690162 | CALM1 | c.314A>G (p.Glu105Gly) c.206A>G (p.Glu69Gly) c.317A>G (p.Glu106Gly) c.186A>G (p.Arg62=) c.207A>G (p.Arg69=) n.2444A>G n.366A>G n.240A>G c.166-50A>G (n.166-50A>G) | |
| 14 | g.90404407A>T | CA390690163 | CALM1 | c.314A>T (p.Glu105Val) c.206A>T (p.Glu69Val) c.317A>T (p.Glu106Val) c.186A>T (p.Arg62Ser) c.207A>T (p.Arg69Ser) n.2444A>T n.366A>T n.240A>T c.166-50A>T (n.166-50A>T) | |
| 14 | g.90404407_90404408delinsCG | CA2579773735 | CALM1 | c.314_315delinsCG (p.Glu105Ala) c.206_207delinsCG (p.Glu69Ala) c.317_318delinsCG (p.Glu106Ala) c.186_187delinsCG (p.Arg62_Thr63delinsSerAla) c.207_208delinsCG (p.Arg69_Thr70delinsSerAla) n.2444_2445delinsCG n.366_367delinsCG n.240_241delinsCG c.166-50_166-49delinsCG (n.166-50_166-49delinsCG) | |
| 14 | g.90404407_90404408delinsGG | CA2579772604 | CALM1 | c.314_315delinsGG (p.Glu105Gly) c.206_207delinsGG (p.Glu69Gly) c.317_318delinsGG (p.Glu106Gly) c.186_187delinsGG (p.Thr63Ala) c.207_208delinsGG (p.Thr70Ala) n.2444_2445delinsGG n.366_367delinsGG n.240_241delinsGG c.166-50_166-49delinsGG (n.166-50_166-49delinsGG) | |
| 14 | g.90404407_90404408delinsGT | CA2579773692 | CALM1 | c.314_315delinsGT (p.Glu105Gly) c.206_207delinsGT (p.Glu69Gly) c.317_318delinsGT (p.Glu106Gly) c.186_187delinsGT (p.Thr63Ser) c.207_208delinsGT (p.Thr70Ser) n.2444_2445delinsGT n.366_367delinsGT n.240_241delinsGT c.166-50_166-49delinsGT (n.166-50_166-49delinsGT) | |
| 14 | g.90404407_90404408delinsTC | CA2579769818 | CALM1 | c.314_315delinsTC (p.Glu105Val) c.206_207delinsTC (p.Glu69Val) c.317_318delinsTC (p.Glu106Val) c.186_187delinsTC (p.Arg62_Thr63delinsSerPro) c.207_208delinsTC (p.Arg69_Thr70delinsSerPro) n.2444_2445delinsTC n.366_367delinsTC n.240_241delinsTC c.166-50_166-49delinsTC (n.166-50_166-49delinsTC) | |
| 14 | g.90404407_90404408delinsTG | CA2579771553 | CALM1 | c.314_315delinsTG (p.Glu105Val) c.206_207delinsTG (p.Glu69Val) c.317_318delinsTG (p.Glu106Val) c.186_187delinsTG (p.Arg62_Thr63delinsSerAla) c.207_208delinsTG (p.Arg69_Thr70delinsSerAla) n.2444_2445delinsTG n.366_367delinsTG n.240_241delinsTG c.166-50_166-49delinsTG (n.166-50_166-49delinsTG) | |
| 14 | g.90404407_90404408delinsTT | CA2579772642 | CALM1 | c.314_315delinsTT (p.Glu105Val) c.206_207delinsTT (p.Glu69Val) c.317_318delinsTT (p.Glu106Val) c.186_187delinsTT (p.Arg62_Thr63delinsSerSer) c.207_208delinsTT (p.Arg69_Thr70delinsSerSer) n.2444_2445delinsTT n.366_367delinsTT n.240_241delinsTT c.166-50_166-49delinsTT (n.166-50_166-49delinsTT) | |
| 14 | g.90404408A>C | CA390690165 | CALM1 | c.315A>C (p.Glu105Asp) c.207A>C (p.Glu69Asp) c.318A>C (p.Glu106Asp) c.187A>C (p.Thr63Pro) c.208A>C (p.Thr70Pro) n.2445A>C n.367A>C n.241A>C c.166-49A>C (n.166-49A>C) | |
| 14 | g.90404408A>G | CA487760102 | CALM1 | c.315A>G (p.Glu105=) c.207A>G (p.Glu69=) c.318A>G (p.Glu106=) c.187A>G (p.Thr63Ala) c.208A>G (p.Thr70Ala) n.2445A>G n.367A>G n.241A>G c.166-49A>G (n.166-49A>G) | |
| 14 | g.90404408A>T | CA390690166 | CALM1 | c.315A>T (p.Glu105Asp) c.207A>T (p.Glu69Asp) c.318A>T (p.Glu106Asp) c.187A>T (p.Thr63Ser) c.208A>T (p.Thr70Ser) n.2445A>T n.367A>T n.241A>T c.166-49A>T (n.166-49A>T) | |
| 14 | g.90404409C>A | CA390690167 | CALM1 | c.316C>A (p.Leu106Ile) c.208C>A (p.Leu70Ile) c.319C>A (p.Leu107Ile) c.188C>A (p.Thr63Asn) c.209C>A (p.Thr70Asn) n.2446C>A n.368C>A n.242C>A c.166-48C>A (n.166-48C>A) | |
| 14 | g.90404409C>G | CA390690168 | CALM1 | c.316C>G (p.Leu106Val) c.208C>G (p.Leu70Val) c.319C>G (p.Leu107Val) c.188C>G (p.Thr63Ser) c.209C>G (p.Thr70Ser) n.2446C>G n.368C>G n.242C>G c.166-48C>G (n.166-48C>G) | |
| 14 | g.90404409C>T | CA487760106 | CALM1 | c.316C>T (p.Leu106=) c.208C>T (p.Leu70=) c.319C>T (p.Leu107=) c.188C>T (p.Thr63Ile) c.209C>T (p.Thr70Ile) n.2446C>T n.368C>T n.242C>T c.166-48C>T (n.166-48C>T) | |
| 14 | g.90404409_90404410delinsAA | CA2579771514 | CALM1 | c.316_317delinsAA (p.Leu106Lys) c.208_209delinsAA (p.Leu70Lys) c.319_320delinsAA (p.Leu107Lys) c.188_189delinsAA (p.Thr63Lys) c.209_210delinsAA (p.Thr70Lys) n.2446_2447delinsAA n.368_369delinsAA n.242_243delinsAA c.166-48_166-47delinsAA (n.166-48_166-47delinsAA) | |
| 14 | g.90404409_90404410delinsAC | CA2579770749 | CALM1 | c.316_317delinsAC (p.Leu106Thr) c.208_209delinsAC (p.Leu70Thr) c.319_320delinsAC (p.Leu107Thr) c.188_189delinsAC (p.Thr63Asn) c.209_210delinsAC (p.Thr70Asn) n.2446_2447delinsAC n.368_369delinsAC n.242_243delinsAC c.166-48_166-47delinsAC (n.166-48_166-47delinsAC) | |
| 14 | g.90404409_90404410delinsTA | CA2579771888 | CALM1 | c.316_317delinsTA (p.Leu106Ter) c.208_209delinsTA (p.Leu70Ter) c.319_320delinsTA (p.Leu107Ter) c.188_189delinsTA (p.Thr63Ile) c.209_210delinsTA (p.Thr70Ile) n.2446_2447delinsTA n.368_369delinsTA n.242_243delinsTA c.166-48_166-47delinsTA (n.166-48_166-47delinsTA) | |
| 14 | g.90404409_90404410delinsTC | CA2579772284 | CALM1 | c.316_317delinsTC (p.Leu106Ser) c.208_209delinsTC (p.Leu70Ser) c.319_320delinsTC (p.Leu107Ser) c.188_189delinsTC (p.Thr63Ile) c.209_210delinsTC (p.Thr70Ile) n.2446_2447delinsTC n.368_369delinsTC n.242_243delinsTC c.166-48_166-47delinsTC (n.166-48_166-47delinsTC) | |
| 14 | g.90404409_90404410delinsTG | CA2579771167 | CALM1 | c.316_317delinsTG (p.Leu106Ter) c.208_209delinsTG (p.Leu70Ter) c.319_320delinsTG (p.Leu107Ter) c.188_189delinsTG (p.Thr63Met) c.209_210delinsTG (p.Thr70Met) n.2446_2447delinsTG n.368_369delinsTG n.242_243delinsTG c.166-48_166-47delinsTG (n.166-48_166-47delinsTG) | |
| 14 | g.90404409_90404411delinsAAT | CA2579773644 | CALM1 | c.316_318delinsAAT (p.Leu106Asn) c.208_210delinsAAT (p.Leu70Asn) c.319_321delinsAAT (p.Leu107Asn) c.188_190delinsAAT (p.Thr63_Thr64delinsLysSer) c.209_211delinsAAT (p.Thr70_Thr71delinsLysSer) n.2446_2448delinsAAT n.368_370delinsAAT n.242_244delinsAAT c.166-48_166-46delinsAAT (n.166-48_166-46delinsAAT) | |
| 14 | g.90404409_90404411delinsATG | CA2579770200 | CALM1 | c.316_318delinsATG (p.Leu106Met) c.208_210delinsATG (p.Leu70Met) c.319_321delinsATG (p.Leu107Met) c.188_190delinsATG (p.Thr63_Thr64delinsAsnAla) c.209_211delinsATG (p.Thr70_Thr71delinsAsnAla) n.2446_2448delinsATG n.368_370delinsATG n.242_244delinsATG c.166-48_166-46delinsATG (n.166-48_166-46delinsATG) | |
| 14 | g.90404409_90404411delinsATT | CA2579771668 | CALM1 | c.316_318delinsATT (p.Leu106Ile) c.208_210delinsATT (p.Leu70Ile) c.319_321delinsATT (p.Leu107Ile) c.188_190delinsATT (p.Thr63_Thr64delinsAsnSer) c.209_211delinsATT (p.Thr70_Thr71delinsAsnSer) n.2446_2448delinsATT n.368_370delinsATT n.242_244delinsATT c.166-48_166-46delinsATT (n.166-48_166-46delinsATT) | |
| 14 | g.90404409_90404411delinsGAT | CA2579772452 | CALM1 | c.316_318delinsGAT (p.Leu106Asp) c.208_210delinsGAT (p.Leu70Asp) c.319_321delinsGAT (p.Leu107Asp) c.188_190delinsGAT (p.Thr63_Thr64delinsArgSer) c.209_211delinsGAT (p.Thr70_Thr71delinsArgSer) n.2446_2448delinsGAT n.368_370delinsGAT n.242_244delinsGAT c.166-48_166-46delinsGAT (n.166-48_166-46delinsGAT) | |
| 14 | g.90404409_90404411delinsTCG | CA2579770783 | CALM1 | c.316_318delinsTCG (p.Leu106Ser) c.208_210delinsTCG (p.Leu70Ser) c.319_321delinsTCG (p.Leu107Ser) c.188_190delinsTCG (p.Thr63_Thr64delinsIleAla) c.209_211delinsTCG (p.Thr70_Thr71delinsIleAla) n.2446_2448delinsTCG n.368_370delinsTCG n.242_244delinsTCG c.166-48_166-46delinsTCG (n.166-48_166-46delinsTCG) | |
| 14 | g.90404409_90404411delinsTGG | CA2579771539 | CALM1 | c.316_318delinsTGG (p.Leu106Trp) c.208_210delinsTGG (p.Leu70Trp) c.319_321delinsTGG (p.Leu107Trp) c.188_190delinsTGG (p.Thr63_Thr64delinsMetAla) c.209_211delinsTGG (p.Thr70_Thr71delinsMetAla) n.2446_2448delinsTGG n.368_370delinsTGG n.242_244delinsTGG c.166-48_166-46delinsTGG (n.166-48_166-46delinsTGG) | |
| 14 | g.90404409_90404411delinsTGT | CA2579769989 | CALM1 | c.316_318delinsTGT (p.Leu106Cys) c.208_210delinsTGT (p.Leu70Cys) c.319_321delinsTGT (p.Leu107Cys) c.188_190delinsTGT (p.Thr63_Thr64delinsMetSer) c.209_211delinsTGT (p.Thr70_Thr71delinsMetSer) n.2446_2448delinsTGT n.368_370delinsTGT n.242_244delinsTGT c.166-48_166-46delinsTGT (n.166-48_166-46delinsTGT) | |
| 14 | g.90404409_90404411delinsTTG | CA2579770242 | CALM1 | c.316_318delinsTTG (p.Leu106=) c.208_210delinsTTG (p.Leu70=) c.319_321delinsTTG (p.Leu107=) c.188_190delinsTTG (p.Thr63_Thr64delinsIleAla) c.209_211delinsTTG (p.Thr70_Thr71delinsIleAla) n.2446_2448delinsTTG n.368_370delinsTTG n.242_244delinsTTG c.166-48_166-46delinsTTG (n.166-48_166-46delinsTTG) | |
| 14 | g.90404409_90404411delinsTTT | CA2579772052 | CALM1 | c.316_318delinsTTT (p.Leu106Phe) c.208_210delinsTTT (p.Leu70Phe) c.319_321delinsTTT (p.Leu107Phe) c.188_190delinsTTT (p.Thr63_Thr64delinsIleSer) c.209_211delinsTTT (p.Thr70_Thr71delinsIleSer) n.2446_2448delinsTTT n.368_370delinsTTT n.242_244delinsTTT c.166-48_166-46delinsTTT (n.166-48_166-46delinsTTT) | |
| 14 | g.90404410T>A | CA390690169 | CALM1 | c.317T>A (p.Leu106Gln) c.209T>A (p.Leu70Gln) c.320T>A (p.Leu107Gln) c.189T>A (p.Thr63=) c.210T>A (p.Thr70=) n.2447T>A n.369T>A n.243T>A c.166-47T>A (n.166-47T>A) | |
| 14 | g.90404410T>C | CA390690170 | CALM1 | c.317T>C (p.Leu106Pro) c.209T>C (p.Leu70Pro) c.320T>C (p.Leu107Pro) c.189T>C (p.Thr63=) c.210T>C (p.Thr70=) n.2447T>C n.369T>C n.243T>C c.166-47T>C (n.166-47T>C) | |
| 14 | g.90404410T>G | CA390690171 | CALM1 | c.317T>G (p.Leu106Arg) c.209T>G (p.Leu70Arg) c.320T>G (p.Leu107Arg) c.189T>G (p.Thr63=) c.210T>G (p.Thr70=) n.2447T>G n.369T>G n.243T>G c.166-47T>G (n.166-47T>G) |