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.12735710A= | CA2470555345 | USP9Y | c.756A= (p.Ile252=) n.768A= c.519+3A= (n.519+3A=) | |
| Y | g.12735710A>C | CA10573063 | USP9Y | c.756A>C (p.Ile252=) n.768A>C c.519+3A>C (n.519+3A>C) | dbSNP ExAC gnomAD v2 |
| Y | g.12735710A>G | CA414984835 | USP9Y | c.756A>G (p.Ile252Met) n.768A>G c.519+3A>G (n.519+3A>G) | |
| Y | g.12735710A>T | CA519865776 | USP9Y | c.756A>T (p.Ile252=) n.768A>T c.519+3A>T (n.519+3A>T) | |
| Y | g.12735711A>C | CA414984846 | USP9Y | c.757A>C (p.Ile253Leu) n.769A>C c.519+4A>C (n.519+4A>C) | |
| Y | g.12735711A>G | CA414984849 | USP9Y | c.757A>G (p.Ile253Val) n.769A>G c.519+4A>G (n.519+4A>G) | |
| Y | g.12735711A>T | CA414984842 | USP9Y | c.757A>T (p.Ile253Phe) n.769A>T c.519+4A>T (n.519+4A>T) | |
| Y | g.12735712T>A | CA414984855 | USP9Y | c.758T>A (p.Ile253Asn) n.770T>A c.519+5T>A (n.519+5T>A) | |
| Y | g.12735712T>C | CA414984859 | USP9Y | c.758T>C (p.Ile253Thr) n.770T>C c.519+5T>C (n.519+5T>C) | |
| Y | g.12735712T>G | CA414984860 | USP9Y | c.758T>G (p.Ile253Ser) n.770T>G c.519+5T>G (n.519+5T>G) | |
| Y | g.12735713T>A | CA519865794 | USP9Y | c.759T>A (p.Ile253=) n.771T>A c.519+6T>A (n.519+6T>A) | |
| Y | g.12735713T>C | CA519865801 | USP9Y | c.759T>C (p.Ile253=) n.771T>C c.519+6T>C (n.519+6T>C) | |
| Y | g.12735713T>G | CA414984861 | USP9Y | c.759T>G (p.Ile253Met) n.771T>G c.519+6T>G (n.519+6T>G) | |
| Y | g.12735714G>A | CA414984874 | USP9Y | c.760G>A (p.Ala254Thr) n.772G>A c.519+7G>A (n.519+7G>A) | |
| Y | g.12735714G>C | CA414984870 | USP9Y | c.760G>C (p.Ala254Pro) n.772G>C c.519+7G>C (n.519+7G>C) | |
| Y | g.12735714G>T | CA414984864 | USP9Y | c.760G>T (p.Ala254Ser) n.772G>T c.519+7G>T (n.519+7G>T) | |
| Y | g.12735715C>A | CA414984883 | USP9Y | c.761C>A (p.Ala254Glu) n.773C>A c.519+8C>A (n.519+8C>A) | |
| Y | g.12735715C>G | CA414984886 | USP9Y | c.761C>G (p.Ala254Gly) n.773C>G c.519+8C>G (n.519+8C>G) | |
| Y | g.12735715C>T | CA414984893 | USP9Y | c.761C>T (p.Ala254Val) n.773C>T c.519+8C>T (n.519+8C>T) | |
| Y | g.12735716A>C | CA519865812 | USP9Y | c.762A>C (p.Ala254=) n.774A>C c.519+9A>C (n.519+9A>C) | |
| Y | g.12735716A>G | CA519865815 | USP9Y | c.762A>G (p.Ala254=) n.774A>G c.519+9A>G (n.519+9A>G) | |
| Y | g.12735716A>T | CA519865818 | USP9Y | c.762A>T (p.Ala254=) n.774A>T c.519+9A>T (n.519+9A>T) | |
| Y | g.12735717G>A | CA414984896 | USP9Y | c.763G>A (p.Ala255Thr) n.775G>A c.519+10G>A (n.519+10G>A) | |
| Y | g.12735717G>C | CA414984901 | USP9Y | c.763G>C (p.Ala255Pro) n.775G>C c.519+10G>C (n.519+10G>C) | |
| Y | g.12735717G>T | CA414984905 | USP9Y | c.763G>T (p.Ala255Ser) n.775G>T c.519+10G>T (n.519+10G>T) | |
| Y | g.12735718C>A | CA414984911 | USP9Y | c.764C>A (p.Ala255Asp) n.776C>A c.519+11C>A (n.519+11C>A) | |
| Y | g.12735718C>G | CA414984919 | USP9Y | c.764C>G (p.Ala255Gly) n.776C>G c.519+11C>G (n.519+11C>G) | |
| Y | g.12735718C>T | CA414984915 | USP9Y | c.764C>T (p.Ala255Val) n.776C>T c.519+11C>T (n.519+11C>T) | |
| Y | g.12735719T>A | CA519865849 | USP9Y | c.765T>A (p.Ala255=) n.777T>A c.519+12T>A (n.519+12T>A) | |
| Y | g.12735719T>C | CA519865855 | USP9Y | c.765T>C (p.Ala255=) n.777T>C c.519+12T>C (n.519+12T>C) | |
| Y | g.12735719T>G | CA519865850 | USP9Y | c.765T>G (p.Ala255=) n.777T>G c.519+12T>G (n.519+12T>G) | |
| Y | g.12735720C>A | CA414984923 | USP9Y | c.766C>A (p.Leu256Ile) n.778C>A c.519+13C>A (n.519+13C>A) | |
| Y | g.12735720C>G | CA414984926 | USP9Y | c.766C>G (p.Leu256Val) n.778C>G c.519+13C>G (n.519+13C>G) | |
| Y | g.12735720C>T | CA414984929 | USP9Y | c.766C>T (p.Leu256Phe) n.778C>T c.519+13C>T (n.519+13C>T) | |
| Y | g.12735720_12735723delinsCTTA | CA2470555346 | USP9Y | c.766_769delinsCTTA (p.Leu256=) n.778_781delinsCTTA c.519+13_519+16delinsCTTA (n.519+13_519+16delinsCTTA) | |
| Y | g.12735721T>A | CA414984942 | USP9Y | c.767T>A (p.Leu256His) n.779T>A c.519+14T>A (n.519+14T>A) | |
| Y | g.12735721T>C | CA414984943 | USP9Y | c.767T>C (p.Leu256Pro) n.779T>C c.519+14T>C (n.519+14T>C) | |
| Y | g.12735721T>G | CA414984946 | USP9Y | c.767T>G (p.Leu256Arg) n.779T>G c.519+14T>G (n.519+14T>G) | |
| Y | g.12735722del | CA2579747616 | USP9Y | c.768del (p.Ile257LeufsTer16) n.780del c.519+15del (n.519+15del) | |
| Y | g.12735724_12735726del | CA10573064 | USP9Y | c.770_772del (p.Ile257del) n.782_784del c.519+17_519+19del (n.519+17_519+19del) | dbSNP ExAC gnomAD v2 |
| Y | g.12735722T>A | CA519865884 | USP9Y | c.768T>A (p.Leu256=) n.780T>A c.519+15T>A (n.519+15T>A) | |
| Y | g.12735722T>C | CA519865888 | USP9Y | c.768T>C (p.Leu256=) n.780T>C c.519+15T>C (n.519+15T>C) | |
| Y | g.12735722T>G | CA519865892 | USP9Y | c.768T>G (p.Leu256=) n.780T>G c.519+15T>G (n.519+15T>G) | |
| Y | g.12735723A>C | CA414984951 | USP9Y | c.769A>C (p.Ile257Leu) n.781A>C c.519+16A>C (n.519+16A>C) | |
| Y | g.12735723A>G | CA414984954 | USP9Y | c.769A>G (p.Ile257Val) n.781A>G c.519+16A>G (n.519+16A>G) | |
| Y | g.12735723A>T | CA414984959 | USP9Y | c.769A>T (p.Ile257Phe) n.781A>T c.519+16A>T (n.519+16A>T) | |
| Y | g.12735724T>A | CA414984964 | USP9Y | c.770T>A (p.Ile257Asn) n.782T>A c.519+17T>A (n.519+17T>A) | |
| Y | g.12735724T>C | CA414984968 | USP9Y | c.770T>C (p.Ile257Thr) n.782T>C c.519+17T>C (n.519+17T>C) | |
| Y | g.12735724T>G | CA414984966 | USP9Y | c.770T>G (p.Ile257Ser) n.782T>G c.519+17T>G (n.519+17T>G) | |
| Y | g.12735724_12735728delinsTTAAG | CA2470555347 | USP9Y | c.770_773+1delinsTTAAG n.782_785+1delinsTTAAG c.519+17_519+21delinsTTAAG (n.519+17_519+21delinsTTAAG) |