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 |
|---|---|---|---|---|---|
| X | g.139561742_139561743del | CA2461412155 | F9 | c.1057_1058del (p.Val353LysfsTer20) n.1723+1_1723+2del c.943_944del (p.Val315LysfsTer20) c.928_929del (p.Val310LysfsTer20) | dbSNP |
| X | g.139561744_139561747dup | CA2461412156 | F9 | c.1059_1062dup (p.Gly355LysfsTer20) n.1723+3_1723+6dup c.945_948dup (p.Gly317LysfsTer20) c.930_933dup (p.Gly312LysfsTer20) | dbSNP |
| X | g.139561743T>A | CA414445622 | F9 | c.1058T>A (p.Val353Glu) n.1723+2T>A c.944T>A (p.Val315Glu) c.929T>A (p.Val310Glu) | |
| X | g.139561743T>C | CA255383 | F9 | c.1058T>C (p.Val353Ala) n.1723+2T>C c.944T>C (p.Val315Ala) c.929T>C (p.Val310Ala) | ClinVar dbSNP |
| X | g.139561743T>G | CA414445626 | F9 | c.1058T>G (p.Val353Gly) n.1723+2T>G c.944T>G (p.Val315Gly) c.929T>G (p.Val310Gly) | |
| X | g.139561743T= | CA2461412157 | F9 | c.1058T= (p.Val353=) n.1723+2T= c.944T= (p.Val315=) c.929T= (p.Val310=) | |
| X | g.139561744A>C | CA518917023 | F9 | c.1059A>C (p.Val353=) n.1723+3A>C c.945A>C (p.Val315=) c.930A>C (p.Val310=) | |
| X | g.139561744A>G | CA518917024 | F9 | c.1059A>G (p.Val353=) n.1723+3A>G c.945A>G (p.Val315=) c.930A>G (p.Val310=) | |
| X | g.139561744A>T | CA518917025 | F9 | c.1059A>T (p.Val353=) n.1723+3A>T c.945A>T (p.Val315=) c.930A>T (p.Val310=) | |
| X | g.139561744_139561753del | CA2695236328 | F9 | c.1059_1068del (p.Ser354GlufsTer11) n.1723+3_1723+12del c.945_954del (p.Ser316GlufsTer11) c.930_939del (p.Ser311GlufsTer11) | |
| X | g.139561745A>C | CA414445627 | F9 | c.1060A>C (p.Ser354Arg) n.1723+4A>C c.946A>C (p.Ser316Arg) c.931A>C (p.Ser311Arg) | |
| X | g.139561745A>G | CA414445629 | F9 | c.1060A>G (p.Ser354Gly) n.1723+4A>G c.946A>G (p.Ser316Gly) c.931A>G (p.Ser311Gly) | |
| X | g.139561745A>T | CA414445631 | F9 | c.1060A>T (p.Ser354Cys) n.1723+4A>T c.946A>T (p.Ser316Cys) c.931A>T (p.Ser311Cys) | |
| X | g.139561746G>A | CA414445634 | F9 | c.1061G>A (p.Ser354Asn) n.1723+5G>A c.947G>A (p.Ser316Asn) c.932G>A (p.Ser311Asn) | |
| X | g.139561746G>C | CA414445639 | F9 | c.1061G>C (p.Ser354Thr) n.1723+5G>C c.947G>C (p.Ser316Thr) c.932G>C (p.Ser311Thr) | |
| X | g.139561746G>T | CA414445637 | F9 | c.1061G>T (p.Ser354Ile) n.1723+5G>T c.947G>T (p.Ser316Ile) c.932G>T (p.Ser311Ile) | |
| X | g.139561747T>A | CA414445642 | F9 | c.1062T>A (p.Ser354Arg) n.1723+6T>A c.948T>A (p.Ser316Arg) c.933T>A (p.Ser311Arg) | ClinVar dbSNP |
| X | g.139561747T>C | CA518917026 | F9 | c.1062T>C (p.Ser354=) n.1723+6T>C c.948T>C (p.Ser316=) c.933T>C (p.Ser311=) | ClinVar dbSNP |
| X | g.139561747T>G | CA414445645 | F9 | c.1062T>G (p.Ser354Arg) n.1723+6T>G c.948T>G (p.Ser316Arg) c.933T>G (p.Ser311Arg) | |
| X | g.139561748G>A | CA414445648 | F9 | c.1063G>A (p.Gly355Ser) n.1723+7G>A c.949G>A (p.Gly317Ser) c.934G>A (p.Gly312Ser) | |
| X | g.139561748G>C | CA414445653 | F9 | c.1063G>C (p.Gly355Arg) n.1723+7G>C c.949G>C (p.Gly317Arg) c.934G>C (p.Gly312Arg) | |
| X | g.139561748G>T | CA414445655 | F9 | c.1063G>T (p.Gly355Cys) n.1723+7G>T c.949G>T (p.Gly317Cys) c.934G>T (p.Gly312Cys) | |
| X | g.139561749G>A | CA414445661 | F9 | c.1064G>A (p.Gly355Asp) n.1723+8G>A c.950G>A (p.Gly317Asp) c.935G>A (p.Gly312Asp) | dbSNP |
| X | g.139561749G>C | CA414445658 | F9 | c.1064G>C (p.Gly355Ala) n.1723+8G>C c.950G>C (p.Gly317Ala) c.935G>C (p.Gly312Ala) | |
| X | g.139561749G= | CA2461412158 | F9 | c.1064G= (p.Gly355=) n.1723+8G= c.950G= (p.Gly317=) c.935G= (p.Gly312=) | |
| X | g.139561749G>T | CA255386 | F9 | c.1064G>T (p.Gly355Val) n.1723+8G>T c.950G>T (p.Gly317Val) c.935G>T (p.Gly312Val) | ClinVar dbSNP |
| X | g.139561750C>A | CA518917027 | F9 | c.1065C>A (p.Gly355=) n.1723+9C>A c.951C>A (p.Gly317=) c.936C>A (p.Gly312=) | |
| X | g.139561750C>G | CA518917028 | F9 | c.1065C>G (p.Gly355=) n.1723+9C>G c.951C>G (p.Gly317=) c.936C>G (p.Gly312=) | |
| X | g.139561750C>T | CA518917029 | F9 | c.1065C>T (p.Gly355=) n.1723+9C>T c.951C>T (p.Gly317=) c.936C>T (p.Gly312=) | |
| X | g.139561751T>A | CA414445665 | F9 | c.1066T>A (p.Trp356Arg) n.1723+10T>A c.952T>A (p.Trp318Arg) c.937T>A (p.Trp313Arg) | |
| X | g.139561751T>C | CA414445667 | F9 | c.1066T>C (p.Trp356Arg) n.1723+10T>C c.952T>C (p.Trp318Arg) c.937T>C (p.Trp313Arg) | |
| X | g.139561751T>G | CA414445670 | F9 | c.1066T>G (p.Trp356Gly) n.1723+10T>G c.952T>G (p.Trp318Gly) c.937T>G (p.Trp313Gly) | |
| X | g.139561751_139561752delinsTG | CA2461412159 | F9 | c.1066_1067delinsTG (p.Trp356=) n.1723+10_1723+11delinsTG c.952_953delinsTG (p.Trp318=) c.937_938delinsTG (p.Trp313=) | |
| X | g.139561752G>A | CA414445672 | F9 | c.1067G>A (p.Trp356Ter) n.1723+11G>A c.953G>A (p.Trp318Ter) c.938G>A (p.Trp313Ter) | ClinVar dbSNP |
| X | g.139561752G>C | CA414445676 | F9 | c.1067G>C (p.Trp356Ser) n.1723+11G>C c.953G>C (p.Trp318Ser) c.938G>C (p.Trp313Ser) | |
| X | g.139561752G= | CA2461412160 | F9 | c.1067G= (p.Trp356=) n.1723+11G= c.953G= (p.Trp318=) c.938G= (p.Trp313=) | |
| X | g.139561752G>T | CA414445678 | F9 | c.1067G>T (p.Trp356Leu) n.1723+11G>T c.953G>T (p.Trp318Leu) c.938G>T (p.Trp313Leu) | ClinVar dbSNP |
| X | g.139561755del | CA872127975 | F9 | c.1070del (p.Gly357GlufsTer11) n.1723+14del c.956del (p.Gly319GlufsTer11) c.941del (p.Gly314GlufsTer11) | dbSNP |
| X | g.139561753G>A | CA414445681 | F9 | c.1068G>A (p.Trp356Ter) n.1723+12G>A c.954G>A (p.Trp318Ter) c.939G>A (p.Trp313Ter) | ClinVar dbSNP |
| X | g.139561753G>C | CA414445686 | F9 | c.1068G>C (p.Trp356Cys) n.1723+12G>C c.954G>C (p.Trp318Cys) c.939G>C (p.Trp313Cys) | |
| X | g.139561753G= | CA2461412161 | F9 | c.1068G= (p.Trp356=) n.1723+12G= c.954G= (p.Trp318=) c.939G= (p.Trp313=) | |
| X | g.139561753G>T | CA414445683 | F9 | c.1068G>T (p.Trp356Cys) n.1723+12G>T c.954G>T (p.Trp318Cys) c.939G>T (p.Trp313Cys) | |
| X | g.139561753_139561754delinsAA | CA2695236333 | F9 | c.1068_1069delinsAA (p.Trp356Ter) n.1723+12_1723+13delinsAA c.954_955delinsAA (p.Trp318Ter) c.939_940delinsAA (p.Trp313Ter) | |
| X | g.139561754G>A | CA255389 | F9 | c.1069G>A (p.Gly357Arg) n.1723+13G>A c.955G>A (p.Gly319Arg) c.940G>A (p.Gly314Arg) | ClinVar dbSNP |
| X | g.139561754G>C | CA414445690 | F9 | c.1069G>C (p.Gly357Arg) n.1723+13G>C c.955G>C (p.Gly319Arg) c.940G>C (p.Gly314Arg) | |
| X | g.139561754G= | CA2461412162 | F9 | c.1069G= (p.Gly357=) n.1723+13G= c.955G= (p.Gly319=) c.940G= (p.Gly314=) | |
| X | g.139561754G>T | CA414445692 | F9 | c.1069G>T (p.Gly357Ter) n.1723+13G>T c.955G>T (p.Gly319Ter) c.940G>T (p.Gly314Ter) | COSMIC |
| X | g.139561755G>A | CA255437 | F9 | c.1070G>A (p.Gly357Glu) n.1723+14G>A c.956G>A (p.Gly319Glu) c.941G>A (p.Gly314Glu) | ClinVar dbSNP |
| X | g.139561755G>C | CA414445702 | F9 | c.1070G>C (p.Gly357Ala) n.1723+14G>C c.956G>C (p.Gly319Ala) c.941G>C (p.Gly314Ala) | |
| X | g.139561755G= | CA2461412163 | F9 | c.1070G= (p.Gly357=) n.1723+14G= c.956G= (p.Gly319=) c.941G= (p.Gly314=) |