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 |
|---|---|---|---|---|---|
| Y | g.2866722T>C | CA2548427849 | RPS4Y1 | c.691-71T>C (n.691-71T>C) c.718-71T>C (n.718-71T>C) n.835-71T>C n.42+11951T>C | |
| Y | g.2866725T>C | CA2579746321 | RPS4Y1 | c.691-68T>C (n.691-68T>C) c.718-68T>C (n.718-68T>C) n.835-68T>C n.42+11954T>C | |
| Y | g.2866726G>T | CA2579746322 | RPS4Y1 | c.691-67G>T (n.691-67G>T) c.718-67G>T (n.718-67G>T) n.835-67G>T n.42+11955G>T | |
| Y | g.2866732A>G | CA2589255825 | RPS4Y1 | c.691-61A>G (n.691-61A>G) c.718-61A>G (n.718-61A>G) n.835-61A>G n.42+11961A>G | gnomAD v3 gnomAD v4 |
| Y | g.2866735T>C | CA337440494 | RPS4Y1 | c.691-58T>C (n.691-58T>C) c.718-58T>C (n.718-58T>C) n.835-58T>C n.42+11964T>C | dbSNP |
| Y | g.2866735T= | CA2469664074 | RPS4Y1 | c.691-58T= (n.691-58T=) c.718-58T= (n.718-58T=) n.835-58T= n.42+11964T= | |
| Y | g.2866745C>A | CA2579746323 | RPS4Y1 | c.691-48C>A (n.691-48C>A) c.718-48C>A (n.718-48C>A) n.835-48C>A n.42+11974C>A | |
| Y | g.2866747C>A | CA2579746324 | RPS4Y1 | c.691-46C>A (n.691-46C>A) c.718-46C>A (n.718-46C>A) n.835-46C>A n.42+11976C>A | |
| Y | g.2866758_2866761del | CA2579746325 | RPS4Y1 | c.691-35_691-32del (n.691-35_691-32del) c.718-35_718-32del (n.718-35_718-32del) n.835-35_835-32del n.42+11987_42+11990del | |
| Y | g.2866755T>C | CA10571325 | RPS4Y1 | c.691-38T>C (n.691-38T>C) c.718-38T>C (n.718-38T>C) n.835-38T>C n.42+11984T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.2866755T= | CA2469664075 | RPS4Y1 | c.691-38T= (n.691-38T=) c.718-38T= (n.718-38T=) n.835-38T= n.42+11984T= | |
| Y | g.2866760C>A | CA2579746327 | RPS4Y1 | c.691-33C>A (n.691-33C>A) c.718-33C>A (n.718-33C>A) n.835-33C>A n.42+11989C>A | |
| Y | g.2866760C>G | CA2579746326 | RPS4Y1 | c.691-33C>G (n.691-33C>G) c.718-33C>G (n.718-33C>G) n.835-33C>G n.42+11989C>G | |
| Y | g.2866767T= | CA2469664076 | RPS4Y1 | c.691-26T= (n.691-26T=) c.718-26T= (n.718-26T=) n.835-26T= n.42+11996T= | |
| Y | g.2866768dup | CA10571326 | RPS4Y1 | c.691-25dup (n.691-25dup) c.718-25dup (n.718-25dup) n.835-25dup n.42+11997dup | dbSNP ExAC gnomAD v2 |
| Y | g.2866769C>A | CA10571327 | RPS4Y1 | c.691-24C>A (n.691-24C>A) c.718-24C>A (n.718-24C>A) n.835-24C>A n.42+11998C>A | dbSNP ExAC gnomAD v2 |
| Y | g.2866769C= | CA2469664077 | RPS4Y1 | c.691-24C= (n.691-24C=) c.718-24C= (n.718-24C=) n.835-24C= n.42+11998C= | |
| Y | g.2866777_2866778delinsTC | CA2469664078 | RPS4Y1 | c.691-16_691-15delinsTC (n.691-16_691-15delinsTC) c.718-16_718-15delinsTC (n.718-16_718-15delinsTC) n.835-16_835-15delinsTC n.42+12006_42+12007delinsTC | |
| Y | g.2866779del | CA645285378 | RPS4Y1 | c.691-14del (n.691-14del) c.718-14del (n.718-14del) n.835-14del n.42+12008del | dbSNP gnomAD v2 |
| Y | g.2866785T>A | CA2546607989 | RPS4Y1 | c.691-8T>A (n.691-8T>A) c.718-8T>A (n.718-8T>A) n.835-8T>A n.42+12014T>A | |
| Y | g.2866791A>C | CA414947214 | RPS4Y1 | c.691-2A>C (n.691-2A>C) c.718-2A>C (n.718-2A>C) n.835-2A>C n.42+12020A>C | |
| Y | g.2866791A>G | CA414947215 | RPS4Y1 | c.691-2A>G (n.691-2A>G) c.718-2A>G (n.718-2A>G) n.835-2A>G n.42+12020A>G | |
| Y | g.2866791A>T | CA414947218 | RPS4Y1 | c.691-2A>T (n.691-2A>T) c.718-2A>T (n.718-2A>T) n.835-2A>T n.42+12020A>T | |
| Y | g.2866792G>A | CA414947222 | RPS4Y1 | c.691-1G>A (n.691-1G>A) c.718-1G>A (n.718-1G>A) n.835-1G>A n.42+12021G>A | |
| Y | g.2866792G>C | CA414947224 | RPS4Y1 | c.691-1G>C (n.691-1G>C) c.718-1G>C (n.718-1G>C) n.835-1G>C n.42+12021G>C | |
| Y | g.2866792G>T | CA414947220 | RPS4Y1 | c.691-1G>T (n.691-1G>T) c.718-1G>T (n.718-1G>T) n.835-1G>T n.42+12021G>T | |
| Y | g.2866793G>A | CA414947226 | RPS4Y1 | c.691G>A (p.Gly231Ser) c.718G>A (p.Gly240Ser) n.835G>A n.42+12022G>A | |
| Y | g.2866793G>C | CA414947228 | RPS4Y1 | c.691G>C (p.Gly231Arg) c.718G>C (p.Gly240Arg) n.835G>C n.42+12022G>C | |
| Y | g.2866793G>T | CA414947230 | RPS4Y1 | c.691G>T (p.Gly231Cys) c.718G>T (p.Gly240Cys) n.835G>T n.42+12022G>T | |
| Y | g.2866794G>A | CA414947232 | RPS4Y1 | c.692G>A (p.Gly231Asp) c.719G>A (p.Gly240Asp) n.836G>A n.42+12023G>A | |
| Y | g.2866794G>C | CA414947234 | RPS4Y1 | c.692G>C (p.Gly231Ala) c.719G>C (p.Gly240Ala) n.836G>C n.42+12023G>C | |
| Y | g.2866794G>T | CA414947236 | RPS4Y1 | c.692G>T (p.Gly231Val) c.719G>T (p.Gly240Val) n.836G>T n.42+12023G>T | |
| Y | g.2866795C>A | CA519439297 | RPS4Y1 | c.693C>A (p.Gly231=) c.720C>A (p.Gly240=) n.837C>A n.42+12024C>A | |
| Y | g.2866795C>G | CA519439298 | RPS4Y1 | c.693C>G (p.Gly231=) c.720C>G (p.Gly240=) n.837C>G n.42+12024C>G | |
| Y | g.2866795C>T | CA519439296 | RPS4Y1 | c.693C>T (p.Gly231=) c.720C>T (p.Gly240=) n.837C>T n.42+12024C>T | |
| Y | g.2866796A>C | CA414947238 | RPS4Y1 | c.694A>C (p.Asn232His) c.721A>C (p.Asn241His) n.838A>C n.42+12025A>C | |
| Y | g.2866796A>G | CA414947240 | RPS4Y1 | c.694A>G (p.Asn232Asp) c.721A>G (p.Asn241Asp) n.838A>G n.42+12025A>G | |
| Y | g.2866796A>T | CA414947241 | RPS4Y1 | c.694A>T (p.Asn232Tyr) c.721A>T (p.Asn241Tyr) n.838A>T n.42+12025A>T | |
| Y | g.2866797A>C | CA414947244 | RPS4Y1 | c.695A>C (p.Asn232Thr) c.722A>C (p.Asn241Thr) n.839A>C n.42+12026A>C | |
| Y | g.2866797A>G | CA414947246 | RPS4Y1 | c.695A>G (p.Asn232Ser) c.722A>G (p.Asn241Ser) n.839A>G n.42+12026A>G | |
| Y | g.2866797A>T | CA414947247 | RPS4Y1 | c.695A>T (p.Asn232Ile) c.722A>T (p.Asn241Ile) n.839A>T n.42+12026A>T | |
| Y | g.2866798T>A | CA414947251 | RPS4Y1 | c.696T>A (p.Asn232Lys) c.723T>A (p.Asn241Lys) n.840T>A n.42+12027T>A | |
| Y | g.2866798T>C | CA519439299 | RPS4Y1 | c.696T>C (p.Asn232=) c.723T>C (p.Asn241=) n.840T>C n.42+12027T>C | |
| Y | g.2866798T>G | CA414947249 | RPS4Y1 | c.696T>G (p.Asn232Lys) c.723T>G (p.Asn241Lys) n.840T>G n.42+12027T>G | |
| Y | g.2866799A>C | CA414947253 | RPS4Y1 | c.697A>C (p.Lys233Gln) c.724A>C (p.Lys242Gln) n.841A>C n.42+12028A>C | |
| Y | g.2866799A>G | CA414947255 | RPS4Y1 | c.697A>G (p.Lys233Glu) c.724A>G (p.Lys242Glu) n.841A>G n.42+12028A>G | |
| Y | g.2866799A>T | CA414947257 | RPS4Y1 | c.697A>T (p.Lys233Ter) c.724A>T (p.Lys242Ter) n.841A>T n.42+12028A>T | |
| Y | g.2866800A>C | CA414947259 | RPS4Y1 | c.698A>C (p.Lys233Thr) c.725A>C (p.Lys242Thr) n.842A>C n.42+12029A>C | |
| Y | g.2866800A>G | CA414947261 | RPS4Y1 | c.698A>G (p.Lys233Arg) c.725A>G (p.Lys242Arg) n.842A>G n.42+12029A>G | |
| Y | g.2866800A>T | CA414947263 | RPS4Y1 | c.698A>T (p.Lys233Ile) c.725A>T (p.Lys242Ile) n.842A>T n.42+12029A>T |