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 |
|---|---|---|---|---|---|
| 16 | g.89281510_89281512delinsCTT | CA2241602082 | ANKRD11 | c.5030_5032delinsAAG (p.Lys1677=) c.*4833_*4835delinsAAG (n.*4833_*4835delinsAAG) c.745-6321_745-6319delinsAAG (n.745-6321_745-6319delinsAAG) c.152-6321_152-6319delinsAAG c.4928_4930delinsAAG (p.Lys1643=) c.4733_4735delinsAAG (p.Lys1578=) c.4901_4903delinsAAG (p.Lys1634=) | |
| 16 | g.89281512_89281513del | CA16043097 | ANKRD11 | c.5030_5031del (p.Lys1677ArgfsTer19) c.*4833_*4834del (n.*4833_*4834del) c.745-6321_745-6320del (n.745-6321_745-6320del) c.152-6321_152-6320del c.4928_4929del (p.Lys1643ArgfsTer19) c.4733_4734del (p.Lys1578ArgfsTer19) c.4901_4902del (p.Lys1634ArgfsTer19) | ClinVar dbSNP |
| 16 | g.89281512T>A | CA397155921 | ANKRD11 | c.5030A>T (p.Lys1677Ile) c.*4833A>T (n.*4833A>T) c.745-6321A>T (n.745-6321A>T) c.152-6321A>T c.4928A>T (p.Lys1643Ile) c.4733A>T (p.Lys1578Ile) c.4901A>T (p.Lys1634Ile) | |
| 16 | g.89281512T>C | CA286514955 | ANKRD11 | c.5030A>G (p.Lys1677Arg) c.*4833A>G (n.*4833A>G) c.745-6321A>G (n.745-6321A>G) c.152-6321A>G c.4928A>G (p.Lys1643Arg) c.4733A>G (p.Lys1578Arg) c.4901A>G (p.Lys1634Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89281512T>G | CA397155923 | ANKRD11 | c.5030A>C (p.Lys1677Thr) c.*4833A>C (n.*4833A>C) c.745-6321A>C (n.745-6321A>C) c.152-6321A>C c.4928A>C (p.Lys1643Thr) c.4733A>C (p.Lys1578Thr) c.4901A>C (p.Lys1634Thr) | |
| 16 | g.89281512T= | CA2241602085 | ANKRD11 | c.5030A= (p.Lys1677=) c.*4833A= (n.*4833A=) c.745-6321A= (n.745-6321A=) c.152-6321A= c.4928A= (p.Lys1643=) c.4733A= (p.Lys1578=) c.4901A= (p.Lys1634=) | |
| 16 | g.89281513T>A | CA397155925 | ANKRD11 | c.5029A>T (p.Lys1677Ter) c.*4832A>T (n.*4832A>T) c.745-6322A>T (n.745-6322A>T) c.152-6322A>T c.4927A>T (p.Lys1643Ter) c.4732A>T (p.Lys1578Ter) c.4900A>T (p.Lys1634Ter) | |
| 16 | g.89281513T>C | CA397155927 | ANKRD11 | c.5029A>G (p.Lys1677Glu) c.*4832A>G (n.*4832A>G) c.745-6322A>G (n.745-6322A>G) c.152-6322A>G c.4927A>G (p.Lys1643Glu) c.4732A>G (p.Lys1578Glu) c.4900A>G (p.Lys1634Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89281513T>G | CA397155929 | ANKRD11 | c.5029A>C (p.Lys1677Gln) c.*4832A>C (n.*4832A>C) c.745-6322A>C (n.745-6322A>C) c.152-6322A>C c.4927A>C (p.Lys1643Gln) c.4732A>C (p.Lys1578Gln) c.4900A>C (p.Lys1634Gln) | |
| 16 | g.89281513T= | CA2241602087 | ANKRD11 | c.5029A= (p.Lys1677=) c.*4832A= (n.*4832A=) c.745-6322A= (n.745-6322A=) c.152-6322A= c.4927A= (p.Lys1643=) c.4732A= (p.Lys1578=) c.4900A= (p.Lys1634=) | |
| 16 | g.89281514G>A | CA497374374 | ANKRD11 | c.5028C>T (p.Ser1676=) c.*4831C>T (n.*4831C>T) c.745-6323C>T (n.745-6323C>T) c.152-6323C>T c.4926C>T (p.Ser1642=) c.4731C>T (p.Ser1577=) c.4899C>T (p.Ser1633=) | dbSNP |
| 16 | g.89281514G>C | CA497374371 | ANKRD11 | c.5028C>G (p.Ser1676=) c.*4831C>G (n.*4831C>G) c.745-6323C>G (n.745-6323C>G) c.152-6323C>G c.4926C>G (p.Ser1642=) c.4731C>G (p.Ser1577=) c.4899C>G (p.Ser1633=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89281514G= | CA2241602089 | ANKRD11 | c.5028C= (p.Ser1676=) c.*4831C= (n.*4831C=) c.745-6323C= (n.745-6323C=) c.152-6323C= c.4926C= (p.Ser1642=) c.4731C= (p.Ser1577=) c.4899C= (p.Ser1633=) | |
| 16 | g.89281514G>T | CA497374369 | ANKRD11 | c.5028C>A (p.Ser1676=) c.*4831C>A (n.*4831C>A) c.745-6323C>A (n.745-6323C>A) c.152-6323C>A c.4926C>A (p.Ser1642=) c.4731C>A (p.Ser1577=) c.4899C>A (p.Ser1633=) | |
| 16 | g.89281515G>A | CA8241976 | ANKRD11 | c.5027C>T (p.Ser1676Phe) c.*4830C>T (n.*4830C>T) c.745-6324C>T (n.745-6324C>T) c.152-6324C>T c.4925C>T (p.Ser1642Phe) c.4730C>T (p.Ser1577Phe) c.4898C>T (p.Ser1633Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89281515G>C | CA8241977 | ANKRD11 | c.5027C>G (p.Ser1676Cys) c.*4830C>G (n.*4830C>G) c.745-6324C>G (n.745-6324C>G) c.152-6324C>G c.4925C>G (p.Ser1642Cys) c.4730C>G (p.Ser1577Cys) c.4898C>G (p.Ser1633Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89281515G= | CA2241602091 | ANKRD11 | c.5027C= (p.Ser1676=) c.*4830C= (n.*4830C=) c.745-6324C= (n.745-6324C=) c.152-6324C= c.4925C= (p.Ser1642=) c.4730C= (p.Ser1577=) c.4898C= (p.Ser1633=) | |
| 16 | g.89281515G>T | CA397155934 | ANKRD11 | c.5027C>A (p.Ser1676Tyr) c.*4830C>A (n.*4830C>A) c.745-6324C>A (n.745-6324C>A) c.152-6324C>A c.4925C>A (p.Ser1642Tyr) c.4730C>A (p.Ser1577Tyr) c.4898C>A (p.Ser1633Tyr) | gnomAD v4 |
| 16 | g.89281516A>C | CA397155937 | ANKRD11 | c.5026T>G (p.Ser1676Ala) c.*4829T>G (n.*4829T>G) c.745-6325T>G (n.745-6325T>G) c.152-6325T>G c.4924T>G (p.Ser1642Ala) c.4729T>G (p.Ser1577Ala) c.4897T>G (p.Ser1633Ala) | |
| 16 | g.89281516A>G | CA397155944 | ANKRD11 | c.5026T>C (p.Ser1676Pro) c.*4829T>C (n.*4829T>C) c.745-6325T>C (n.745-6325T>C) c.152-6325T>C c.4924T>C (p.Ser1642Pro) c.4729T>C (p.Ser1577Pro) c.4897T>C (p.Ser1633Pro) | |
| 16 | g.89281516A>T | CA397155946 | ANKRD11 | c.5026T>A (p.Ser1676Thr) c.*4829T>A (n.*4829T>A) c.745-6325T>A (n.745-6325T>A) c.152-6325T>A c.4924T>A (p.Ser1642Thr) c.4729T>A (p.Ser1577Thr) c.4897T>A (p.Ser1633Thr) | |
| 16 | g.89281517G>A | CA8241979 | ANKRD11 | c.5025C>T (p.Asp1675=) c.*4828C>T (n.*4828C>T) c.745-6326C>T (n.745-6326C>T) c.152-6326C>T c.4923C>T (p.Asp1641=) c.4728C>T (p.Asp1576=) c.4896C>T (p.Asp1632=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89281517G>C | CA8241978 | ANKRD11 | c.5025C>G (p.Asp1675Glu) c.*4828C>G (n.*4828C>G) c.745-6326C>G (n.745-6326C>G) c.152-6326C>G c.4923C>G (p.Asp1641Glu) c.4728C>G (p.Asp1576Glu) c.4896C>G (p.Asp1632Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89281517G= | CA2241602094 | ANKRD11 | c.5025C= (p.Asp1675=) c.*4828C= (n.*4828C=) c.745-6326C= (n.745-6326C=) c.152-6326C= c.4923C= (p.Asp1641=) c.4728C= (p.Asp1576=) c.4896C= (p.Asp1632=) | |
| 16 | g.89281517G>T | CA397155949 | ANKRD11 | c.5025C>A (p.Asp1675Glu) c.*4828C>A (n.*4828C>A) c.745-6326C>A (n.745-6326C>A) c.152-6326C>A c.4923C>A (p.Asp1641Glu) c.4728C>A (p.Asp1576Glu) c.4896C>A (p.Asp1632Glu) | |
| 16 | g.89281518T>A | CA397155953 | ANKRD11 | c.5024A>T (p.Asp1675Val) c.*4827A>T (n.*4827A>T) c.745-6327A>T (n.745-6327A>T) c.152-6327A>T c.4922A>T (p.Asp1641Val) c.4727A>T (p.Asp1576Val) c.4895A>T (p.Asp1632Val) | |
| 16 | g.89281518T>C | CA397155954 | ANKRD11 | c.5024A>G (p.Asp1675Gly) c.*4827A>G (n.*4827A>G) c.745-6327A>G (n.745-6327A>G) c.152-6327A>G c.4922A>G (p.Asp1641Gly) c.4727A>G (p.Asp1576Gly) c.4895A>G (p.Asp1632Gly) | |
| 16 | g.89281518T>G | CA397155956 | ANKRD11 | c.5024A>C (p.Asp1675Ala) c.*4827A>C (n.*4827A>C) c.745-6327A>C (n.745-6327A>C) c.152-6327A>C c.4922A>C (p.Asp1641Ala) c.4727A>C (p.Asp1576Ala) c.4895A>C (p.Asp1632Ala) | |
| 16 | g.89281519C>A | CA397155957 | ANKRD11 | c.5023G>T (p.Asp1675Tyr) c.*4826G>T (n.*4826G>T) c.745-6328G>T (n.745-6328G>T) c.152-6328G>T c.4921G>T (p.Asp1641Tyr) c.4726G>T (p.Asp1576Tyr) c.4894G>T (p.Asp1632Tyr) | |
| 16 | g.89281519C>G | CA397155959 | ANKRD11 | c.5023G>C (p.Asp1675His) c.*4826G>C (n.*4826G>C) c.745-6328G>C (n.745-6328G>C) c.152-6328G>C c.4921G>C (p.Asp1641His) c.4726G>C (p.Asp1576His) c.4894G>C (p.Asp1632His) | gnomAD v4 |
| 16 | g.89281519C>T | CA397155961 | ANKRD11 | c.5023G>A (p.Asp1675Asn) c.*4826G>A (n.*4826G>A) c.745-6328G>A (n.745-6328G>A) c.152-6328G>A c.4921G>A (p.Asp1641Asn) c.4726G>A (p.Asp1576Asn) c.4894G>A (p.Asp1632Asn) | |
| 16 | g.89281520T>A | CA497374386 | ANKRD11 | c.5022A>T (p.Ala1674=) c.*4825A>T (n.*4825A>T) c.745-6329A>T (n.745-6329A>T) c.152-6329A>T c.4920A>T (p.Ala1640=) c.4725A>T (p.Ala1575=) c.4893A>T (p.Ala1631=) | |
| 16 | g.89281520T>C | CA497374387 | ANKRD11 | c.5022A>G (p.Ala1674=) c.*4825A>G (n.*4825A>G) c.745-6329A>G (n.745-6329A>G) c.152-6329A>G c.4920A>G (p.Ala1640=) c.4725A>G (p.Ala1575=) c.4893A>G (p.Ala1631=) | |
| 16 | g.89281520T>G | CA497374388 | ANKRD11 | c.5022A>C (p.Ala1674=) c.*4825A>C (n.*4825A>C) c.745-6329A>C (n.745-6329A>C) c.152-6329A>C c.4920A>C (p.Ala1640=) c.4725A>C (p.Ala1575=) c.4893A>C (p.Ala1631=) | |
| 16 | g.89281521G>A | CA397155964 | ANKRD11 | c.5021C>T (p.Ala1674Val) c.*4824C>T (n.*4824C>T) c.745-6330C>T (n.745-6330C>T) c.152-6330C>T c.4919C>T (p.Ala1640Val) c.4724C>T (p.Ala1575Val) c.4892C>T (p.Ala1631Val) | |
| 16 | g.89281521G>C | CA397155966 | ANKRD11 | c.5021C>G (p.Ala1674Gly) c.*4824C>G (n.*4824C>G) c.745-6330C>G (n.745-6330C>G) c.152-6330C>G c.4919C>G (p.Ala1640Gly) c.4724C>G (p.Ala1575Gly) c.4892C>G (p.Ala1631Gly) | |
| 16 | g.89281521G>T | CA397155967 | ANKRD11 | c.5021C>A (p.Ala1674Glu) c.*4824C>A (n.*4824C>A) c.745-6330C>A (n.745-6330C>A) c.152-6330C>A c.4919C>A (p.Ala1640Glu) c.4724C>A (p.Ala1575Glu) c.4892C>A (p.Ala1631Glu) | |
| 16 | g.89281522C>A | CA397155969 | ANKRD11 | c.5020G>T (p.Ala1674Ser) c.*4823G>T (n.*4823G>T) c.745-6331G>T (n.745-6331G>T) c.152-6331G>T c.4918G>T (p.Ala1640Ser) c.4723G>T (p.Ala1575Ser) c.4891G>T (p.Ala1631Ser) | |
| 16 | g.89281522C= | CA2241602097 | ANKRD11 | c.5020G= (p.Ala1674=) c.*4823G= (n.*4823G=) c.745-6331G= (n.745-6331G=) c.152-6331G= c.4918G= (p.Ala1640=) c.4723G= (p.Ala1575=) c.4891G= (p.Ala1631=) | |
| 16 | g.89281522C>G | CA397155971 | ANKRD11 | c.5020G>C (p.Ala1674Pro) c.*4823G>C (n.*4823G>C) c.745-6331G>C (n.745-6331G>C) c.152-6331G>C c.4918G>C (p.Ala1640Pro) c.4723G>C (p.Ala1575Pro) c.4891G>C (p.Ala1631Pro) | dbSNP |
| 16 | g.89281522C>T | CA397155973 | ANKRD11 | c.5020G>A (p.Ala1674Thr) c.*4823G>A (n.*4823G>A) c.745-6331G>A (n.745-6331G>A) c.152-6331G>A c.4918G>A (p.Ala1640Thr) c.4723G>A (p.Ala1575Thr) c.4891G>A (p.Ala1631Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89281523A>C | CA497374390 | ANKRD11 | c.5019T>G (p.Gly1673=) c.*4822T>G (n.*4822T>G) c.745-6332T>G (n.745-6332T>G) c.152-6332T>G c.4917T>G (p.Gly1639=) c.4722T>G (p.Gly1574=) c.4890T>G (p.Gly1630=) | |
| 16 | g.89281523A>G | CA497374391 | ANKRD11 | c.5019T>C (p.Gly1673=) c.*4822T>C (n.*4822T>C) c.745-6332T>C (n.745-6332T>C) c.152-6332T>C c.4917T>C (p.Gly1639=) c.4722T>C (p.Gly1574=) c.4890T>C (p.Gly1630=) | |
| 16 | g.89281523A>T | CA497374393 | ANKRD11 | c.5019T>A (p.Gly1673=) c.*4822T>A (n.*4822T>A) c.745-6332T>A (n.745-6332T>A) c.152-6332T>A c.4917T>A (p.Gly1639=) c.4722T>A (p.Gly1574=) c.4890T>A (p.Gly1630=) | |
| 16 | g.89281524C>A | CA397155977 | ANKRD11 | c.5018G>T (p.Gly1673Val) c.*4821G>T (n.*4821G>T) c.745-6333G>T (n.745-6333G>T) c.152-6333G>T c.4916G>T (p.Gly1639Val) c.4721G>T (p.Gly1574Val) c.4889G>T (p.Gly1630Val) | ClinVar gnomAD v4 |
| 16 | g.89281524C>G | CA397155979 | ANKRD11 | c.5018G>C (p.Gly1673Ala) c.*4821G>C (n.*4821G>C) c.745-6333G>C (n.745-6333G>C) c.152-6333G>C c.4916G>C (p.Gly1639Ala) c.4721G>C (p.Gly1574Ala) c.4889G>C (p.Gly1630Ala) | |
| 16 | g.89281524C>T | CA397155975 | ANKRD11 | c.5018G>A (p.Gly1673Asp) c.*4821G>A (n.*4821G>A) c.745-6333G>A (n.745-6333G>A) c.152-6333G>A c.4916G>A (p.Gly1639Asp) c.4721G>A (p.Gly1574Asp) c.4889G>A (p.Gly1630Asp) | gnomAD v4 |
| 16 | g.89281525C>A | CA397155981 | ANKRD11 | c.5017G>T (p.Gly1673Cys) c.*4820G>T (n.*4820G>T) c.745-6334G>T (n.745-6334G>T) c.152-6334G>T c.4915G>T (p.Gly1639Cys) c.4720G>T (p.Gly1574Cys) c.4888G>T (p.Gly1630Cys) | |
| 16 | g.89281525C= | CA2241602100 | ANKRD11 | c.5017G= (p.Gly1673=) c.*4820G= (n.*4820G=) c.745-6334G= (n.745-6334G=) c.152-6334G= c.4915G= (p.Gly1639=) c.4720G= (p.Gly1574=) c.4888G= (p.Gly1630=) | |
| 16 | g.89281525C>G | CA397155985 | ANKRD11 | c.5017G>C (p.Gly1673Arg) c.*4820G>C (n.*4820G>C) c.745-6334G>C (n.745-6334G>C) c.152-6334G>C c.4915G>C (p.Gly1639Arg) c.4720G>C (p.Gly1574Arg) c.4888G>C (p.Gly1630Arg) | dbSNP gnomAD v2 gnomAD v4 |