UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22272843G>A | CA379923739 | ANO5 | n.106G>A c.1639G>A (p.Ala547Thr) c.2047G>A (p.Ala683Thr) n.3083G>A c.2044G>A (p.Ala682Thr) c.2089G>A (p.Ala697Thr) n.2424G>A c.2086G>A (p.Ala696Thr) c.2011G>A (p.Ala671Thr) c.2008G>A (p.Ala670Thr) c.1996G>A (p.Ala666Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272843G>C | CA379923740 | ANO5 | n.106G>C c.1639G>C (p.Ala547Pro) c.2047G>C (p.Ala683Pro) n.3083G>C c.2044G>C (p.Ala682Pro) c.2089G>C (p.Ala697Pro) n.2424G>C c.2086G>C (p.Ala696Pro) c.2011G>C (p.Ala671Pro) c.2008G>C (p.Ala670Pro) c.1996G>C (p.Ala666Pro) | |
| 11 | g.22272843G= | CA1957402852 | ANO5 | n.106G= c.1639G= (p.Ala547=) c.2047G= (p.Ala683=) n.3083G= c.2044G= (p.Ala682=) c.2089G= (p.Ala697=) n.2424G= c.2086G= (p.Ala696=) c.2011G= (p.Ala671=) c.2008G= (p.Ala670=) c.1996G= (p.Ala666=) | |
| 11 | g.22272843G>T | CA379923741 | ANO5 | n.106G>T c.1639G>T (p.Ala547Ser) c.2047G>T (p.Ala683Ser) n.3083G>T c.2044G>T (p.Ala682Ser) c.2089G>T (p.Ala697Ser) n.2424G>T c.2086G>T (p.Ala696Ser) c.2011G>T (p.Ala671Ser) c.2008G>T (p.Ala670Ser) c.1996G>T (p.Ala666Ser) | |
| 11 | g.22272844C>A | CA379923743 | ANO5 | n.107C>A c.1640C>A (p.Ala547Asp) c.2048C>A (p.Ala683Asp) n.3084C>A c.2045C>A (p.Ala682Asp) c.2090C>A (p.Ala697Asp) n.2425C>A c.2087C>A (p.Ala696Asp) c.2012C>A (p.Ala671Asp) c.2009C>A (p.Ala670Asp) c.1997C>A (p.Ala666Asp) | |
| 11 | g.22272844C>G | CA379923745 | ANO5 | n.107C>G c.1640C>G (p.Ala547Gly) c.2048C>G (p.Ala683Gly) n.3084C>G c.2045C>G (p.Ala682Gly) c.2090C>G (p.Ala697Gly) n.2425C>G c.2087C>G (p.Ala696Gly) c.2012C>G (p.Ala671Gly) c.2009C>G (p.Ala670Gly) c.1997C>G (p.Ala666Gly) | |
| 11 | g.22272844C>T | CA379923746 | ANO5 | n.107C>T c.1640C>T (p.Ala547Val) c.2048C>T (p.Ala683Val) n.3084C>T c.2045C>T (p.Ala682Val) c.2090C>T (p.Ala697Val) n.2425C>T c.2087C>T (p.Ala696Val) c.2012C>T (p.Ala671Val) c.2009C>T (p.Ala670Val) c.1997C>T (p.Ala666Val) | |
| 11 | g.22272845T>A | CA473407511 | ANO5 | n.108T>A c.1641T>A (p.Ala547=) c.2049T>A (p.Ala683=) n.3085T>A c.2046T>A (p.Ala682=) c.2091T>A (p.Ala697=) n.2426T>A c.2088T>A (p.Ala696=) c.2013T>A (p.Ala671=) c.2010T>A (p.Ala670=) c.1998T>A (p.Ala666=) | |
| 11 | g.22272845T>C | CA473407513 | ANO5 | n.108T>C c.1641T>C (p.Ala547=) c.2049T>C (p.Ala683=) n.3085T>C c.2046T>C (p.Ala682=) c.2091T>C (p.Ala697=) n.2426T>C c.2088T>C (p.Ala696=) c.2013T>C (p.Ala671=) c.2010T>C (p.Ala670=) c.1998T>C (p.Ala666=) | |
| 11 | g.22272845T>G | CA473407512 | ANO5 | n.108T>G c.1641T>G (p.Ala547=) c.2049T>G (p.Ala683=) n.3085T>G c.2046T>G (p.Ala682=) c.2091T>G (p.Ala697=) n.2426T>G c.2088T>G (p.Ala696=) c.2013T>G (p.Ala671=) c.2010T>G (p.Ala670=) c.1998T>G (p.Ala666=) | dbSNP |
| 11 | g.22272845T= | CA1957402855 | ANO5 | n.108T= c.1641T= (p.Ala547=) c.2049T= (p.Ala683=) n.3085T= c.2046T= (p.Ala682=) c.2091T= (p.Ala697=) n.2426T= c.2088T= (p.Ala696=) c.2013T= (p.Ala671=) c.2010T= (p.Ala670=) c.1998T= (p.Ala666=) | |
| 11 | g.22272846C>A | CA379923749 | ANO5 | n.109C>A c.1642C>A (p.Leu548Ile) c.2050C>A (p.Leu684Ile) n.3086C>A c.2047C>A (p.Leu683Ile) c.2092C>A (p.Leu698Ile) n.2427C>A c.2089C>A (p.Leu697Ile) c.2014C>A (p.Leu672Ile) c.2011C>A (p.Leu671Ile) c.1999C>A (p.Leu667Ile) | |
| 11 | g.22272846C>G | CA379923751 | ANO5 | n.109C>G c.1642C>G (p.Leu548Val) c.2050C>G (p.Leu684Val) n.3086C>G c.2047C>G (p.Leu683Val) c.2092C>G (p.Leu698Val) n.2427C>G c.2089C>G (p.Leu697Val) c.2014C>G (p.Leu672Val) c.2011C>G (p.Leu671Val) c.1999C>G (p.Leu667Val) | |
| 11 | g.22272846C>T | CA379923748 | ANO5 | n.109C>T c.1642C>T (p.Leu548Phe) c.2050C>T (p.Leu684Phe) n.3086C>T c.2047C>T (p.Leu683Phe) c.2092C>T (p.Leu698Phe) n.2427C>T c.2089C>T (p.Leu697Phe) c.2014C>T (p.Leu672Phe) c.2011C>T (p.Leu671Phe) c.1999C>T (p.Leu667Phe) | gnomAD v4 |
| 11 | g.22272847T>A | CA379923752 | ANO5 | n.110T>A c.1643T>A (p.Leu548His) c.2051T>A (p.Leu684His) n.3087T>A c.2048T>A (p.Leu683His) c.2093T>A (p.Leu698His) n.2428T>A c.2090T>A (p.Leu697His) c.2015T>A (p.Leu672His) c.2012T>A (p.Leu671His) c.2000T>A (p.Leu667His) | |
| 11 | g.22272847T>C | CA379923754 | ANO5 | n.110T>C c.1643T>C (p.Leu548Pro) c.2051T>C (p.Leu684Pro) n.3087T>C c.2048T>C (p.Leu683Pro) c.2093T>C (p.Leu698Pro) n.2428T>C c.2090T>C (p.Leu697Pro) c.2015T>C (p.Leu672Pro) c.2012T>C (p.Leu671Pro) c.2000T>C (p.Leu667Pro) | COSMIC |
| 11 | g.22272847T>G | CA379923756 | ANO5 | n.110T>G c.1643T>G (p.Leu548Arg) c.2051T>G (p.Leu684Arg) n.3087T>G c.2048T>G (p.Leu683Arg) c.2093T>G (p.Leu698Arg) n.2428T>G c.2090T>G (p.Leu697Arg) c.2015T>G (p.Leu672Arg) c.2012T>G (p.Leu671Arg) c.2000T>G (p.Leu667Arg) | |
| 11 | g.22272848C>A | CA473407514 | ANO5 | n.111C>A c.1644C>A (p.Leu548=) c.2052C>A (p.Leu684=) n.3088C>A c.2049C>A (p.Leu683=) c.2094C>A (p.Leu698=) n.2429C>A c.2091C>A (p.Leu697=) c.2016C>A (p.Leu672=) c.2013C>A (p.Leu671=) c.2001C>A (p.Leu667=) | |
| 11 | g.22272848C= | CA1957402860 | ANO5 | n.111C= c.1644C= (p.Leu548=) c.2052C= (p.Leu684=) n.3088C= c.2049C= (p.Leu683=) c.2094C= (p.Leu698=) n.2429C= c.2091C= (p.Leu697=) c.2016C= (p.Leu672=) c.2013C= (p.Leu671=) c.2001C= (p.Leu667=) | |
| 11 | g.22272848C>G | CA473407515 | ANO5 | n.111C>G c.1644C>G (p.Leu548=) c.2052C>G (p.Leu684=) n.3088C>G c.2049C>G (p.Leu683=) c.2094C>G (p.Leu698=) n.2429C>G c.2091C>G (p.Leu697=) c.2016C>G (p.Leu672=) c.2013C>G (p.Leu671=) c.2001C>G (p.Leu667=) | |
| 11 | g.22272848C>T | CA473407516 | ANO5 | n.111C>T c.1644C>T (p.Leu548=) c.2052C>T (p.Leu684=) n.3088C>T c.2049C>T (p.Leu683=) c.2094C>T (p.Leu698=) n.2429C>T c.2091C>T (p.Leu697=) c.2016C>T (p.Leu672=) c.2013C>T (p.Leu671=) c.2001C>T (p.Leu667=) | |
| 11 | g.22272849A>C | CA379923757 | ANO5 | n.112A>C c.1645A>C (p.Ile549Leu) c.2053A>C (p.Ile685Leu) n.3089A>C c.2050A>C (p.Ile684Leu) c.2095A>C (p.Ile699Leu) n.2430A>C c.2092A>C (p.Ile698Leu) c.2017A>C (p.Ile673Leu) c.2014A>C (p.Ile672Leu) c.2002A>C (p.Ile668Leu) | |
| 11 | g.22272849A>G | CA379923758 | ANO5 | n.112A>G c.1645A>G (p.Ile549Val) c.2053A>G (p.Ile685Val) n.3089A>G c.2050A>G (p.Ile684Val) c.2095A>G (p.Ile699Val) n.2430A>G c.2092A>G (p.Ile698Val) c.2017A>G (p.Ile673Val) c.2014A>G (p.Ile672Val) c.2002A>G (p.Ile668Val) | gnomAD v4 |
| 11 | g.22272849A>T | CA379923760 | ANO5 | n.112A>T c.1645A>T (p.Ile549Leu) c.2053A>T (p.Ile685Leu) n.3089A>T c.2050A>T (p.Ile684Leu) c.2095A>T (p.Ile699Leu) n.2430A>T c.2092A>T (p.Ile698Leu) c.2017A>T (p.Ile673Leu) c.2014A>T (p.Ile672Leu) c.2002A>T (p.Ile668Leu) | |
| 11 | g.22272853_22272856dup | CA674654781 | ANO5 | n.116_119dup c.1649_1652dup (p.Asn551LysfsTer2) c.2057_2060dup (p.Asn687LysfsTer2) n.3093_3096dup c.2054_2057dup (p.Asn686LysfsTer2) c.2099_2102dup (p.Asn701LysfsTer2) n.2434_2437dup c.2096_2099dup (p.Asn700LysfsTer2) c.2021_2024dup (p.Asn675LysfsTer2) c.2018_2021dup (p.Asn674LysfsTer2) c.2006_2009dup (p.Asn670LysfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22272853_22272856del | CA2790698856 | ANO5 | n.116_119del c.1649_1652del (p.Asn550IlefsTer3) c.2057_2060del (p.Asn686IlefsTer3) n.3093_3096del c.2054_2057del (p.Asn685IlefsTer3) c.2099_2102del (p.Asn700IlefsTer3) n.2434_2437del c.2096_2099del (p.Asn699IlefsTer3) c.2021_2024del (p.Asn674IlefsTer3) c.2018_2021del (p.Asn673IlefsTer3) c.2006_2009del (p.Asn669IlefsTer3) | |
| 11 | g.22272850T>A | CA379923762 | ANO5 | n.113T>A c.1646T>A (p.Ile549Lys) c.2054T>A (p.Ile685Lys) n.3090T>A c.2051T>A (p.Ile684Lys) c.2096T>A (p.Ile699Lys) n.2431T>A c.2093T>A (p.Ile698Lys) c.2018T>A (p.Ile673Lys) c.2015T>A (p.Ile672Lys) c.2003T>A (p.Ile668Lys) | |
| 11 | g.22272850T>C | CA5923455 | ANO5 | n.113T>C c.1646T>C (p.Ile549Thr) c.2054T>C (p.Ile685Thr) n.3090T>C c.2051T>C (p.Ile684Thr) c.2096T>C (p.Ile699Thr) n.2431T>C c.2093T>C (p.Ile698Thr) c.2018T>C (p.Ile673Thr) c.2015T>C (p.Ile672Thr) c.2003T>C (p.Ile668Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272850T>G | CA379923764 | ANO5 | n.113T>G c.1646T>G (p.Ile549Arg) c.2054T>G (p.Ile685Arg) n.3090T>G c.2051T>G (p.Ile684Arg) c.2096T>G (p.Ile699Arg) n.2431T>G c.2093T>G (p.Ile698Arg) c.2018T>G (p.Ile673Arg) c.2015T>G (p.Ile672Arg) c.2003T>G (p.Ile668Arg) | |
| 11 | g.22272850T= | CA1957402875 | ANO5 | n.113T= c.1646T= (p.Ile549=) c.2054T= (p.Ile685=) n.3090T= c.2051T= (p.Ile684=) c.2096T= (p.Ile699=) n.2431T= c.2093T= (p.Ile698=) c.2018T= (p.Ile673=) c.2015T= (p.Ile672=) c.2003T= (p.Ile668=) | |
| 11 | g.22272851A>C | CA473407518 | ANO5 | n.114A>C c.1647A>C (p.Ile549=) c.2055A>C (p.Ile685=) n.3091A>C c.2052A>C (p.Ile684=) c.2097A>C (p.Ile699=) n.2432A>C c.2094A>C (p.Ile698=) c.2019A>C (p.Ile673=) c.2016A>C (p.Ile672=) c.2004A>C (p.Ile668=) | |
| 11 | g.22272851A>G | CA379923766 | ANO5 | n.114A>G c.1647A>G (p.Ile549Met) c.2055A>G (p.Ile685Met) n.3091A>G c.2052A>G (p.Ile684Met) c.2097A>G (p.Ile699Met) n.2432A>G c.2094A>G (p.Ile698Met) c.2019A>G (p.Ile673Met) c.2016A>G (p.Ile672Met) c.2004A>G (p.Ile668Met) | |
| 11 | g.22272851A>T | CA473407517 | ANO5 | n.114A>T c.1647A>T (p.Ile549=) c.2055A>T (p.Ile685=) n.3091A>T c.2052A>T (p.Ile684=) c.2097A>T (p.Ile699=) n.2432A>T c.2094A>T (p.Ile698=) c.2019A>T (p.Ile673=) c.2016A>T (p.Ile672=) c.2004A>T (p.Ile668=) | |
| 11 | g.22272851_22272853del | CA2612837250 | ANO5 | n.114_116del c.1647_1649del (p.Asn550del) c.2055_2057del (p.Asn686del) n.3091_3093del c.2052_2054del (p.Asn685del) c.2097_2099del (p.Asn700del) n.2432_2434del c.2094_2096del (p.Asn699del) c.2019_2021del (p.Asn674del) c.2016_2018del (p.Asn673del) c.2004_2006del (p.Asn669del) | gnomAD v4 |
| 11 | g.22272852A>C | CA379923767 | ANO5 | n.115A>C c.1648A>C (p.Asn550His) c.2056A>C (p.Asn686His) n.3092A>C c.2053A>C (p.Asn685His) c.2098A>C (p.Asn700His) n.2433A>C c.2095A>C (p.Asn699His) c.2020A>C (p.Asn674His) c.2017A>C (p.Asn673His) c.2005A>C (p.Asn669His) | |
| 11 | g.22272852A>G | CA379923769 | ANO5 | n.115A>G c.1648A>G (p.Asn550Asp) c.2056A>G (p.Asn686Asp) n.3092A>G c.2053A>G (p.Asn685Asp) c.2098A>G (p.Asn700Asp) n.2433A>G c.2095A>G (p.Asn699Asp) c.2020A>G (p.Asn674Asp) c.2017A>G (p.Asn673Asp) c.2005A>G (p.Asn669Asp) | |
| 11 | g.22272852A>T | CA379923770 | ANO5 | n.115A>T c.1648A>T (p.Asn550Tyr) c.2056A>T (p.Asn686Tyr) n.3092A>T c.2053A>T (p.Asn685Tyr) c.2098A>T (p.Asn700Tyr) n.2433A>T c.2095A>T (p.Asn699Tyr) c.2020A>T (p.Asn674Tyr) c.2017A>T (p.Asn673Tyr) c.2005A>T (p.Asn669Tyr) | |
| 11 | g.22272856_22272858del | CA2695213374 | ANO5 | n.119_121del c.1652_1654del (p.Asn551del) c.2060_2062del (p.Asn687del) n.3096_3098del c.2057_2059del (p.Asn686del) c.2102_2104del (p.Asn701del) n.2437_2439del c.2099_2101del (p.Asn700del) c.2024_2026del (p.Asn675del) c.2021_2023del (p.Asn674del) c.2009_2011del (p.Asn670del) | |
| 11 | g.22272853A= | CA1957402879 | ANO5 | n.116A= c.1649A= (p.Asn550=) c.2057A= (p.Asn686=) n.3093A= c.2054A= (p.Asn685=) c.2099A= (p.Asn700=) n.2434A= c.2096A= (p.Asn699=) c.2021A= (p.Asn674=) c.2018A= (p.Asn673=) c.2006A= (p.Asn669=) | |
| 11 | g.22272853A>C | CA379923772 | ANO5 | n.116A>C c.1649A>C (p.Asn550Thr) c.2057A>C (p.Asn686Thr) n.3093A>C c.2054A>C (p.Asn685Thr) c.2099A>C (p.Asn700Thr) n.2434A>C c.2096A>C (p.Asn699Thr) c.2021A>C (p.Asn674Thr) c.2018A>C (p.Asn673Thr) c.2006A>C (p.Asn669Thr) | |
| 11 | g.22272853A>G | CA218775809 | ANO5 | n.116A>G c.1649A>G (p.Asn550Ser) c.2057A>G (p.Asn686Ser) n.3093A>G c.2054A>G (p.Asn685Ser) c.2099A>G (p.Asn700Ser) n.2434A>G c.2096A>G (p.Asn699Ser) c.2021A>G (p.Asn674Ser) c.2018A>G (p.Asn673Ser) c.2006A>G (p.Asn669Ser) | dbSNP COSMIC |
| 11 | g.22272853A>T | CA379923771 | ANO5 | n.116A>T c.1649A>T (p.Asn550Ile) c.2057A>T (p.Asn686Ile) n.3093A>T c.2054A>T (p.Asn685Ile) c.2099A>T (p.Asn700Ile) n.2434A>T c.2096A>T (p.Asn699Ile) c.2021A>T (p.Asn674Ile) c.2018A>T (p.Asn673Ile) c.2006A>T (p.Asn669Ile) | |
| 11 | g.22272854T>A | CA379923773 | ANO5 | n.117T>A c.1650T>A (p.Asn550Lys) c.2058T>A (p.Asn686Lys) n.3094T>A c.2055T>A (p.Asn685Lys) c.2100T>A (p.Asn700Lys) n.2435T>A c.2097T>A (p.Asn699Lys) c.2022T>A (p.Asn674Lys) c.2019T>A (p.Asn673Lys) c.2007T>A (p.Asn669Lys) | |
| 11 | g.22272854T>C | CA473407519 | ANO5 | n.117T>C c.1650T>C (p.Asn550=) c.2058T>C (p.Asn686=) n.3094T>C c.2055T>C (p.Asn685=) c.2100T>C (p.Asn700=) n.2435T>C c.2097T>C (p.Asn699=) c.2022T>C (p.Asn674=) c.2019T>C (p.Asn673=) c.2007T>C (p.Asn669=) | gnomAD v4 |
| 11 | g.22272854T>G | CA379923774 | ANO5 | n.117T>G c.1650T>G (p.Asn550Lys) c.2058T>G (p.Asn686Lys) n.3094T>G c.2055T>G (p.Asn685Lys) c.2100T>G (p.Asn700Lys) n.2435T>G c.2097T>G (p.Asn699Lys) c.2022T>G (p.Asn674Lys) c.2019T>G (p.Asn673Lys) c.2007T>G (p.Asn669Lys) | |
| 11 | g.22272855A= | CA1957402884 | ANO5 | n.118A= c.1651A= (p.Asn551=) c.2059A= (p.Asn687=) n.3095A= c.2056A= (p.Asn686=) c.2101A= (p.Asn701=) n.2436A= c.2098A= (p.Asn700=) c.2023A= (p.Asn675=) c.2020A= (p.Asn674=) c.2008A= (p.Asn670=) | |
| 11 | g.22272855A>C | CA379923775 | ANO5 | n.118A>C c.1651A>C (p.Asn551His) c.2059A>C (p.Asn687His) n.3095A>C c.2056A>C (p.Asn686His) c.2101A>C (p.Asn701His) n.2436A>C c.2098A>C (p.Asn700His) c.2023A>C (p.Asn675His) c.2020A>C (p.Asn674His) c.2008A>C (p.Asn670His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22272855A>G | CA218775814 | ANO5 | n.118A>G c.1651A>G (p.Asn551Asp) c.2059A>G (p.Asn687Asp) n.3095A>G c.2056A>G (p.Asn686Asp) c.2101A>G (p.Asn701Asp) n.2436A>G c.2098A>G (p.Asn700Asp) c.2023A>G (p.Asn675Asp) c.2020A>G (p.Asn674Asp) c.2008A>G (p.Asn670Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272855A>T | CA379923776 | ANO5 | n.118A>T c.1651A>T (p.Asn551Tyr) c.2059A>T (p.Asn687Tyr) n.3095A>T c.2056A>T (p.Asn686Tyr) c.2101A>T (p.Asn701Tyr) n.2436A>T c.2098A>T (p.Asn700Tyr) c.2023A>T (p.Asn675Tyr) c.2020A>T (p.Asn674Tyr) c.2008A>T (p.Asn670Tyr) | |
| 11 | g.22272856A= | CA1957402886 | ANO5 | n.119A= c.1652A= (p.Asn551=) c.2060A= (p.Asn687=) n.3096A= c.2057A= (p.Asn686=) c.2102A= (p.Asn701=) n.2437A= c.2099A= (p.Asn700=) c.2024A= (p.Asn675=) c.2021A= (p.Asn674=) c.2009A= (p.Asn670=) |