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 |
|---|---|---|---|---|---|
| 22 | g.38299168_38299195delinsGCCAGGAGCCTCTGCCAGGTAGCCGGAT | CA2404756080 | CSNK1E,TPTEP2-CSNK1E | c.737-261_737-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC (n.737-261_737-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC) c.531-261_531-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC c.212-261_212-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC c.132-261_132-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC c.550-261_550-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC n.172-261_172-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC n.531-261_531-234delinsATCCGGCTACCTGGCAGAGGCTCCTGGC | |
| 22 | g.38299178_38299204del | CA2404756082 | CSNK1E,TPTEP2-CSNK1E | c.737-261_737-235del (n.737-261_737-235del) c.531-261_531-235del c.212-261_212-235del c.132-261_132-235del c.550-261_550-235del n.172-261_172-235del n.531-261_531-235del | dbSNP |
| 22 | g.38299179C= | CA2404756087 | CSNK1E,TPTEP2-CSNK1E | c.737-245G= (n.737-245G=) c.531-245G= c.212-245G= c.132-245G= c.550-245G= n.172-245G= n.531-245G= | |
| 22 | g.38299179C>T | CA752989439 | CSNK1E,TPTEP2-CSNK1E | c.737-245G>A (n.737-245G>A) c.531-245G>A c.212-245G>A c.132-245G>A c.550-245G>A n.172-245G>A n.531-245G>A | dbSNP |
| 22 | g.38299180T>C | CA2404756089 | CSNK1E,TPTEP2-CSNK1E | c.737-246A>G (n.737-246A>G) c.531-246A>G c.212-246A>G c.132-246A>G c.550-246A>G n.172-246A>G n.531-246A>G | dbSNP |
| 22 | g.38299180T= | CA2404756088 | CSNK1E,TPTEP2-CSNK1E | c.737-246A= (n.737-246A=) c.531-246A= c.212-246A= c.132-246A= c.550-246A= n.172-246A= n.531-246A= | |
| 22 | g.38299182C= | CA2404756090 | CSNK1E,TPTEP2-CSNK1E | c.737-248G= (n.737-248G=) c.531-248G= c.212-248G= c.132-248G= c.550-248G= n.172-248G= n.531-248G= | |
| 22 | g.38299182_38299183insT | CA2404756093 | CSNK1E,TPTEP2-CSNK1E | c.737-249_737-248insA (n.737-249_737-248insA) c.531-249_531-248insA c.212-249_212-248insA c.132-249_132-248insA c.550-249_550-248insA n.172-249_172-248insA n.531-249_531-248insA | dbSNP |
| 22 | g.38299183C= | CA2404756092 | CSNK1E,TPTEP2-CSNK1E | c.737-249G= (n.737-249G=) c.531-249G= c.212-249G= c.132-249G= c.550-249G= n.172-249G= n.531-249G= | |
| 22 | g.38299183C>T | CA2404756091 | CSNK1E,TPTEP2-CSNK1E | c.737-249G>A (n.737-249G>A) c.531-249G>A c.212-249G>A c.132-249G>A c.550-249G>A n.172-249G>A n.531-249G>A | dbSNP |
| 22 | g.38299187T>G | CA2404756095 | CSNK1E,TPTEP2-CSNK1E | c.737-253A>C (n.737-253A>C) c.531-253A>C c.212-253A>C c.132-253A>C c.550-253A>C n.172-253A>C n.531-253A>C | dbSNP |
| 22 | g.38299187T= | CA2404756094 | CSNK1E,TPTEP2-CSNK1E | c.737-253A= (n.737-253A=) c.531-253A= c.212-253A= c.132-253A= c.550-253A= n.172-253A= n.531-253A= | |
| 22 | g.38299191C= | CA2404756096 | CSNK1E,TPTEP2-CSNK1E | c.737-257G= (n.737-257G=) c.531-257G= c.212-257G= c.132-257G= c.550-257G= n.172-257G= n.531-257G= | |
| 22 | g.38299191C>T | CA752989442 | CSNK1E,TPTEP2-CSNK1E | c.737-257G>A (n.737-257G>A) c.531-257G>A c.212-257G>A c.132-257G>A c.550-257G>A n.172-257G>A n.531-257G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299192G>A | CA752989443 | CSNK1E,TPTEP2-CSNK1E | c.737-258C>T (n.737-258C>T) c.531-258C>T c.212-258C>T c.132-258C>T c.550-258C>T n.172-258C>T n.531-258C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38299192G= | CA2404756097 | CSNK1E,TPTEP2-CSNK1E | c.737-258C= (n.737-258C=) c.531-258C= c.212-258C= c.132-258C= c.550-258C= n.172-258C= n.531-258C= | |
| 22 | g.38299192G>T | CA324205222 | CSNK1E,TPTEP2-CSNK1E | c.737-258C>A (n.737-258C>A) c.531-258C>A c.212-258C>A c.132-258C>A c.550-258C>A n.172-258C>A n.531-258C>A | dbSNP |
| 22 | g.38299197C= | CA2404756098 | CSNK1E,TPTEP2-CSNK1E | c.737-263G= (n.737-263G=) c.531-263G= c.212-263G= c.132-263G= c.550-263G= n.172-263G= n.531-263G= | |
| 22 | g.38299197C>T | CA324205227 | CSNK1E,TPTEP2-CSNK1E | c.737-263G>A (n.737-263G>A) c.531-263G>A c.212-263G>A c.132-263G>A c.550-263G>A n.172-263G>A n.531-263G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38299204C= | CA2404756099 | CSNK1E,TPTEP2-CSNK1E | c.737-270G= (n.737-270G=) c.531-270G= c.212-270G= c.132-270G= c.550-270G= n.172-270G= n.531-270G= | |
| 22 | g.38299204C>T | CA752989447 | CSNK1E,TPTEP2-CSNK1E | c.737-270G>A (n.737-270G>A) c.531-270G>A c.212-270G>A c.132-270G>A c.550-270G>A n.172-270G>A n.531-270G>A | dbSNP |
| 22 | g.38299211G>A | CA324205252 | CSNK1E,TPTEP2-CSNK1E | c.737-277C>T (n.737-277C>T) c.531-277C>T c.212-277C>T c.132-277C>T c.550-277C>T n.172-277C>T n.531-277C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38299211G= | CA2404756100 | CSNK1E,TPTEP2-CSNK1E | c.737-277C= (n.737-277C=) c.531-277C= c.212-277C= c.132-277C= c.550-277C= n.172-277C= n.531-277C= | |
| 22 | g.38299215A= | CA2404756101 | CSNK1E,TPTEP2-CSNK1E | c.737-281T= (n.737-281T=) c.531-281T= c.212-281T= c.132-281T= c.550-281T= n.172-281T= n.531-281T= | |
| 22 | g.38299215A>G | CA2404756102 | CSNK1E,TPTEP2-CSNK1E | c.737-281T>C (n.737-281T>C) c.531-281T>C c.212-281T>C c.132-281T>C c.550-281T>C n.172-281T>C n.531-281T>C | dbSNP |
| 22 | g.38299220_38299236delinsTCTTCCGCTGCCCTCGC | CA2404756103 | CSNK1E,TPTEP2-CSNK1E | c.737-302_737-286delinsGCGAGGGCAGCGGAAGA (n.737-302_737-286delinsGCGAGGGCAGCGGAAGA) c.531-302_531-286delinsGCGAGGGCAGCGGAAGA c.212-302_212-286delinsGCGAGGGCAGCGGAAGA c.132-302_132-286delinsGCGAGGGCAGCGGAAGA c.550-302_550-286delinsGCGAGGGCAGCGGAAGA n.172-302_172-286delinsGCGAGGGCAGCGGAAGA n.531-302_531-286delinsGCGAGGGCAGCGGAAGA | |
| 22 | g.38299222_38299237del | CA752989450 | CSNK1E,TPTEP2-CSNK1E | c.737-302_737-287del (n.737-302_737-287del) c.531-302_531-287del c.212-302_212-287del c.132-302_132-287del c.550-302_550-287del n.172-302_172-287del n.531-302_531-287del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299225C= | CA2404756104 | CSNK1E,TPTEP2-CSNK1E | c.737-291G= (n.737-291G=) c.531-291G= c.212-291G= c.132-291G= c.550-291G= n.172-291G= n.531-291G= | |
| 22 | g.38299225C>T | CA324205270 | CSNK1E,TPTEP2-CSNK1E | c.737-291G>A (n.737-291G>A) c.531-291G>A c.212-291G>A c.132-291G>A c.550-291G>A n.172-291G>A n.531-291G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299226G>A | CA324205285 | CSNK1E,TPTEP2-CSNK1E | c.737-292C>T (n.737-292C>T) c.531-292C>T c.212-292C>T c.132-292C>T c.550-292C>T n.172-292C>T n.531-292C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38299226G= | CA2404756105 | CSNK1E,TPTEP2-CSNK1E | c.737-292C= (n.737-292C=) c.531-292C= c.212-292C= c.132-292C= c.550-292C= n.172-292C= n.531-292C= | |
| 22 | g.38299226G>T | CA324205292 | CSNK1E,TPTEP2-CSNK1E | c.737-292C>A (n.737-292C>A) c.531-292C>A c.212-292C>A c.132-292C>A c.550-292C>A n.172-292C>A n.531-292C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38299228T>C | CA2404756107 | CSNK1E,TPTEP2-CSNK1E | c.737-294A>G (n.737-294A>G) c.531-294A>G c.212-294A>G c.132-294A>G c.550-294A>G n.172-294A>G n.531-294A>G | dbSNP |
| 22 | g.38299228T= | CA2404756106 | CSNK1E,TPTEP2-CSNK1E | c.737-294A= (n.737-294A=) c.531-294A= c.212-294A= c.132-294A= c.550-294A= n.172-294A= n.531-294A= | |
| 22 | g.38299230C>A | CA324205320 | CSNK1E,TPTEP2-CSNK1E | c.737-296G>T (n.737-296G>T) c.531-296G>T c.212-296G>T c.132-296G>T c.550-296G>T n.172-296G>T n.531-296G>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299230C= | CA2404756108 | CSNK1E,TPTEP2-CSNK1E | c.737-296G= (n.737-296G=) c.531-296G= c.212-296G= c.132-296G= c.550-296G= n.172-296G= n.531-296G= | |
| 22 | g.38299232C>A | CA324205327 | CSNK1E,TPTEP2-CSNK1E | c.737-298G>T (n.737-298G>T) c.531-298G>T c.212-298G>T c.132-298G>T c.550-298G>T n.172-298G>T n.531-298G>T | dbSNP |
| 22 | g.38299232C= | CA2404756109 | CSNK1E,TPTEP2-CSNK1E | c.737-298G= (n.737-298G=) c.531-298G= c.212-298G= c.132-298G= c.550-298G= n.172-298G= n.531-298G= | |
| 22 | g.38299232C>T | CA752989459 | CSNK1E,TPTEP2-CSNK1E | c.737-298G>A (n.737-298G>A) c.531-298G>A c.212-298G>A c.132-298G>A c.550-298G>A n.172-298G>A n.531-298G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299234C= | CA2404756110 | CSNK1E,TPTEP2-CSNK1E | c.737-300G= (n.737-300G=) c.531-300G= c.212-300G= c.132-300G= c.550-300G= n.172-300G= n.531-300G= | |
| 22 | g.38299234C>T | CA639217353 | CSNK1E,TPTEP2-CSNK1E | c.737-300G>A (n.737-300G>A) c.531-300G>A c.212-300G>A c.132-300G>A c.550-300G>A n.172-300G>A n.531-300G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38299235G>A | CA324205333 | CSNK1E,TPTEP2-CSNK1E | c.737-301C>T (n.737-301C>T) c.531-301C>T c.212-301C>T c.132-301C>T c.550-301C>T n.172-301C>T n.531-301C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299235G= | CA2404756111 | CSNK1E,TPTEP2-CSNK1E | c.737-301C= (n.737-301C=) c.531-301C= c.212-301C= c.132-301C= c.550-301C= n.172-301C= n.531-301C= | |
| 22 | g.38299244C= | CA2404756112 | CSNK1E,TPTEP2-CSNK1E | c.737-310G= (n.737-310G=) c.531-310G= c.212-310G= c.132-310G= c.550-310G= n.172-310G= n.531-310G= | |
| 22 | g.38299244C>T | CA1025619102 | CSNK1E,TPTEP2-CSNK1E | c.737-310G>A (n.737-310G>A) c.531-310G>A c.212-310G>A c.132-310G>A c.550-310G>A n.172-310G>A n.531-310G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299246T>C | CA752989461 | CSNK1E,TPTEP2-CSNK1E | c.737-312A>G (n.737-312A>G) c.531-312A>G c.212-312A>G c.132-312A>G c.550-312A>G n.172-312A>G n.531-312A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299246T= | CA2404756113 | CSNK1E,TPTEP2-CSNK1E | c.737-312A= (n.737-312A=) c.531-312A= c.212-312A= c.132-312A= c.550-312A= n.172-312A= n.531-312A= | |
| 22 | g.38299249G>A | CA1025619105 | CSNK1E,TPTEP2-CSNK1E | c.737-315C>T (n.737-315C>T) c.531-315C>T c.212-315C>T c.132-315C>T c.550-315C>T n.172-315C>T n.531-315C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.38299249G= | CA2404756114 | CSNK1E,TPTEP2-CSNK1E | c.737-315C= (n.737-315C=) c.531-315C= c.212-315C= c.132-315C= c.550-315C= n.172-315C= n.531-315C= | |
| 22 | g.38299250G>C | CA2737979854 | CSNK1E,TPTEP2-CSNK1E | c.737-316C>G (n.737-316C>G) c.531-316C>G c.212-316C>G c.132-316C>G c.550-316C>G n.172-316C>G n.531-316C>G | dbSNP |