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 |
|---|---|---|---|---|---|
| 16 | g.89280330_89280332delinsGAC | CA2241587330 | ANKRD11 | c.6210_6212delinsGTC (p.Lys2070=) c.*6013_*6015delinsGTC (n.*6013_*6015delinsGTC) c.745-5141_745-5139delinsGTC (n.745-5141_745-5139delinsGTC) c.152-5141_152-5139delinsGTC c.6108_6110delinsGTC (p.Lys2036=) c.5913_5915delinsGTC (p.Lys1971=) c.6081_6083delinsGTC (p.Lys2027=) | |
| 16 | g.89280331_89280332del | CA279569 | ANKRD11 | c.6210_6211del (p.Lys2070AsnfsTer?) c.*6013_*6014del (n.*6013_*6014del) c.745-5141_745-5140del (n.745-5141_745-5140del) c.152-5141_152-5140del c.6108_6109del (p.Lys2036AsnfsTer?) c.5913_5914del (p.Lys1971AsnfsTer?) c.6081_6082del (p.Lys2027AsnfsTer?) | ClinVar dbSNP |
| 16 | g.89280332C>A | CA397151702 | ANKRD11 | c.6210G>T (p.Lys2070Asn) c.*6013G>T (n.*6013G>T) c.745-5141G>T (n.745-5141G>T) c.152-5141G>T c.6108G>T (p.Lys2036Asn) c.5913G>T (p.Lys1971Asn) c.6081G>T (p.Lys2027Asn) | |
| 16 | g.89280332C= | CA2241587333 | ANKRD11 | c.6210G= (p.Lys2070=) c.*6013G= (n.*6013G=) c.745-5141G= (n.745-5141G=) c.152-5141G= c.6108G= (p.Lys2036=) c.5913G= (p.Lys1971=) c.6081G= (p.Lys2027=) | |
| 16 | g.89280332C>G | CA397151704 | ANKRD11 | c.6210G>C (p.Lys2070Asn) c.*6013G>C (n.*6013G>C) c.745-5141G>C (n.745-5141G>C) c.152-5141G>C c.6108G>C (p.Lys2036Asn) c.5913G>C (p.Lys1971Asn) c.6081G>C (p.Lys2027Asn) | gnomAD v4 |
| 16 | g.89280332C>T | CA8241533 | ANKRD11 | c.6210G>A (p.Lys2070=) c.*6013G>A (n.*6013G>A) c.745-5141G>A (n.745-5141G>A) c.152-5141G>A c.6108G>A (p.Lys2036=) c.5913G>A (p.Lys1971=) c.6081G>A (p.Lys2027=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280333T>A | CA397151707 | ANKRD11 | c.6209A>T (p.Lys2070Met) c.*6012A>T (n.*6012A>T) c.745-5142A>T (n.745-5142A>T) c.152-5142A>T c.6107A>T (p.Lys2036Met) c.5912A>T (p.Lys1971Met) c.6080A>T (p.Lys2027Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280333T>C | CA397151709 | ANKRD11 | c.6209A>G (p.Lys2070Arg) c.*6012A>G (n.*6012A>G) c.745-5142A>G (n.745-5142A>G) c.152-5142A>G c.6107A>G (p.Lys2036Arg) c.5912A>G (p.Lys1971Arg) c.6080A>G (p.Lys2027Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280333T>G | CA397151711 | ANKRD11 | c.6209A>C (p.Lys2070Thr) c.*6012A>C (n.*6012A>C) c.745-5142A>C (n.745-5142A>C) c.152-5142A>C c.6107A>C (p.Lys2036Thr) c.5912A>C (p.Lys1971Thr) c.6080A>C (p.Lys2027Thr) | |
| 16 | g.89280333T= | CA2241587334 | ANKRD11 | c.6209A= (p.Lys2070=) c.*6012A= (n.*6012A=) c.745-5142A= (n.745-5142A=) c.152-5142A= c.6107A= (p.Lys2036=) c.5912A= (p.Lys1971=) c.6080A= (p.Lys2027=) | |
| 16 | g.89280334T>A | CA397151714 | ANKRD11 | c.6208A>T (p.Lys2070Ter) c.*6011A>T (n.*6011A>T) c.745-5143A>T (n.745-5143A>T) c.152-5143A>T c.6106A>T (p.Lys2036Ter) c.5911A>T (p.Lys1971Ter) c.6079A>T (p.Lys2027Ter) | |
| 16 | g.89280334T>C | CA397151716 | ANKRD11 | c.6208A>G (p.Lys2070Glu) c.*6011A>G (n.*6011A>G) c.745-5143A>G (n.745-5143A>G) c.152-5143A>G c.6106A>G (p.Lys2036Glu) c.5911A>G (p.Lys1971Glu) c.6079A>G (p.Lys2027Glu) | gnomAD v4 |
| 16 | g.89280334T>G | CA397151718 | ANKRD11 | c.6208A>C (p.Lys2070Gln) c.*6011A>C (n.*6011A>C) c.745-5143A>C (n.745-5143A>C) c.152-5143A>C c.6106A>C (p.Lys2036Gln) c.5911A>C (p.Lys1971Gln) c.6079A>C (p.Lys2027Gln) | |
| 16 | g.89280336_89280344del | CA2634942518 | ANKRD11 | c.6200_6208del (p.Ser2067_Cys2069del) c.*6003_*6011del (n.*6003_*6011del) c.745-5151_745-5143del (n.745-5151_745-5143del) c.152-5151_152-5143del c.6098_6106del (p.Ser2033_Cys2035del) c.5903_5911del (p.Ser1968_Cys1970del) c.6071_6079del (p.Ser2024_Cys2026del) | gnomAD v4 |
| 16 | g.89280335G>A | CA8241534 | ANKRD11 | c.6207C>T (p.Cys2069=) c.*6010C>T (n.*6010C>T) c.745-5144C>T (n.745-5144C>T) c.152-5144C>T c.6105C>T (p.Cys2035=) c.5910C>T (p.Cys1970=) c.6078C>T (p.Cys2026=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280335G>C | CA397151720 | ANKRD11 | c.6207C>G (p.Cys2069Trp) c.*6010C>G (n.*6010C>G) c.745-5144C>G (n.745-5144C>G) c.152-5144C>G c.6105C>G (p.Cys2035Trp) c.5910C>G (p.Cys1970Trp) c.6078C>G (p.Cys2026Trp) | dbSNP |
| 16 | g.89280335G= | CA2241587335 | ANKRD11 | c.6207C= (p.Cys2069=) c.*6010C= (n.*6010C=) c.745-5144C= (n.745-5144C=) c.152-5144C= c.6105C= (p.Cys2035=) c.5910C= (p.Cys1970=) c.6078C= (p.Cys2026=) | |
| 16 | g.89280335G>T | CA397151722 | ANKRD11 | c.6207C>A (p.Cys2069Ter) c.*6010C>A (n.*6010C>A) c.745-5144C>A (n.745-5144C>A) c.152-5144C>A c.6105C>A (p.Cys2035Ter) c.5910C>A (p.Cys1970Ter) c.6078C>A (p.Cys2026Ter) | |
| 16 | g.89280336C>A | CA8241535 | ANKRD11 | c.6206G>T (p.Cys2069Phe) c.*6009G>T (n.*6009G>T) c.745-5145G>T (n.745-5145G>T) c.152-5145G>T c.6104G>T (p.Cys2035Phe) c.5909G>T (p.Cys1970Phe) c.6077G>T (p.Cys2026Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280336C= | CA2241587336 | ANKRD11 | c.6206G= (p.Cys2069=) c.*6009G= (n.*6009G=) c.745-5145G= (n.745-5145G=) c.152-5145G= c.6104G= (p.Cys2035=) c.5909G= (p.Cys1970=) c.6077G= (p.Cys2026=) | |
| 16 | g.89280336C>G | CA397151726 | ANKRD11 | c.6206G>C (p.Cys2069Ser) c.*6009G>C (n.*6009G>C) c.745-5145G>C (n.745-5145G>C) c.152-5145G>C c.6104G>C (p.Cys2035Ser) c.5909G>C (p.Cys1970Ser) c.6077G>C (p.Cys2026Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280336C>T | CA397151724 | ANKRD11 | c.6206G>A (p.Cys2069Tyr) c.*6009G>A (n.*6009G>A) c.745-5145G>A (n.745-5145G>A) c.152-5145G>A c.6104G>A (p.Cys2035Tyr) c.5909G>A (p.Cys1970Tyr) c.6077G>A (p.Cys2026Tyr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89280337A>C | CA397151729 | ANKRD11 | c.6205T>G (p.Cys2069Gly) c.*6008T>G (n.*6008T>G) c.745-5146T>G (n.745-5146T>G) c.152-5146T>G c.6103T>G (p.Cys2035Gly) c.5908T>G (p.Cys1970Gly) c.6076T>G (p.Cys2026Gly) | |
| 16 | g.89280337A>G | CA397151731 | ANKRD11 | c.6205T>C (p.Cys2069Arg) c.*6008T>C (n.*6008T>C) c.745-5146T>C (n.745-5146T>C) c.152-5146T>C c.6103T>C (p.Cys2035Arg) c.5908T>C (p.Cys1970Arg) c.6076T>C (p.Cys2026Arg) | |
| 16 | g.89280337A>T | CA397151733 | ANKRD11 | c.6205T>A (p.Cys2069Ser) c.*6008T>A (n.*6008T>A) c.745-5146T>A (n.745-5146T>A) c.152-5146T>A c.6103T>A (p.Cys2035Ser) c.5908T>A (p.Cys1970Ser) c.6076T>A (p.Cys2026Ser) | |
| 16 | g.89280338G>A | CA497373102 | ANKRD11 | c.6204C>T (p.Asn2068=) c.*6007C>T (n.*6007C>T) c.745-5147C>T (n.745-5147C>T) c.152-5147C>T c.6102C>T (p.Asn2034=) c.5907C>T (p.Asn1969=) c.6075C>T (p.Asn2025=) | gnomAD v4 |
| 16 | g.89280338G>C | CA397151734 | ANKRD11 | c.6204C>G (p.Asn2068Lys) c.*6007C>G (n.*6007C>G) c.745-5147C>G (n.745-5147C>G) c.152-5147C>G c.6102C>G (p.Asn2034Lys) c.5907C>G (p.Asn1969Lys) c.6075C>G (p.Asn2025Lys) | |
| 16 | g.89280338G>T | CA397151735 | ANKRD11 | c.6204C>A (p.Asn2068Lys) c.*6007C>A (n.*6007C>A) c.745-5147C>A (n.745-5147C>A) c.152-5147C>A c.6102C>A (p.Asn2034Lys) c.5907C>A (p.Asn1969Lys) c.6075C>A (p.Asn2025Lys) | |
| 16 | g.89280339T>A | CA397151738 | ANKRD11 | c.6203A>T (p.Asn2068Ile) c.*6006A>T (n.*6006A>T) c.745-5148A>T (n.745-5148A>T) c.152-5148A>T c.6101A>T (p.Asn2034Ile) c.5906A>T (p.Asn1969Ile) c.6074A>T (p.Asn2025Ile) | gnomAD v4 |
| 16 | g.89280339T>C | CA397151740 | ANKRD11 | c.6203A>G (p.Asn2068Ser) c.*6006A>G (n.*6006A>G) c.745-5148A>G (n.745-5148A>G) c.152-5148A>G c.6101A>G (p.Asn2034Ser) c.5906A>G (p.Asn1969Ser) c.6074A>G (p.Asn2025Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280339T>G | CA397151742 | ANKRD11 | c.6203A>C (p.Asn2068Thr) c.*6006A>C (n.*6006A>C) c.745-5148A>C (n.745-5148A>C) c.152-5148A>C c.6101A>C (p.Asn2034Thr) c.5906A>C (p.Asn1969Thr) c.6074A>C (p.Asn2025Thr) | |
| 16 | g.89280339T= | CA2241587338 | ANKRD11 | c.6203A= (p.Asn2068=) c.*6006A= (n.*6006A=) c.745-5148A= (n.745-5148A=) c.152-5148A= c.6101A= (p.Asn2034=) c.5906A= (p.Asn1969=) c.6074A= (p.Asn2025=) | |
| 16 | g.89280339_89280342delinsTTGC | CA2241587337 | ANKRD11 | c.6200_6203delinsGCAA (p.Ser2067=) c.*6003_*6006delinsGCAA (n.*6003_*6006delinsGCAA) c.745-5151_745-5148delinsGCAA (n.745-5151_745-5148delinsGCAA) c.152-5151_152-5148delinsGCAA c.6098_6101delinsGCAA (p.Ser2033=) c.5903_5906delinsGCAA (p.Ser1968=) c.6071_6074delinsGCAA (p.Ser2024=) | |
| 16 | g.89280340T>A | CA397151745 | ANKRD11 | c.6202A>T (p.Asn2068Tyr) c.*6005A>T (n.*6005A>T) c.745-5149A>T (n.745-5149A>T) c.152-5149A>T c.6100A>T (p.Asn2034Tyr) c.5905A>T (p.Asn1969Tyr) c.6073A>T (p.Asn2025Tyr) | ClinVar gnomAD v4 |
| 16 | g.89280340T>C | CA397151747 | ANKRD11 | c.6202A>G (p.Asn2068Asp) c.*6005A>G (n.*6005A>G) c.745-5149A>G (n.745-5149A>G) c.152-5149A>G c.6100A>G (p.Asn2034Asp) c.5905A>G (p.Asn1969Asp) c.6073A>G (p.Asn2025Asp) | |
| 16 | g.89280340T>G | CA397151748 | ANKRD11 | c.6202A>C (p.Asn2068His) c.*6005A>C (n.*6005A>C) c.745-5149A>C (n.745-5149A>C) c.152-5149A>C c.6100A>C (p.Asn2034His) c.5905A>C (p.Asn1969His) c.6073A>C (p.Asn2025His) | |
| 16 | g.89280342_89280344del | CA8241536 | ANKRD11 | c.6200_6202del (p.Ser2067del) c.*6003_*6005del (n.*6003_*6005del) c.745-5151_745-5149del (n.745-5151_745-5149del) c.152-5151_152-5149del c.6098_6100del (p.Ser2033del) c.5903_5905del (p.Ser1968del) c.6071_6073del (p.Ser2024del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280341G>A | CA8241537 | ANKRD11 | c.6201C>T (p.Ser2067=) c.*6004C>T (n.*6004C>T) c.745-5150C>T (n.745-5150C>T) c.152-5150C>T c.6099C>T (p.Ser2033=) c.5904C>T (p.Ser1968=) c.6072C>T (p.Ser2024=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280341G>C | CA397151753 | ANKRD11 | c.6201C>G (p.Ser2067Arg) c.*6004C>G (n.*6004C>G) c.745-5150C>G (n.745-5150C>G) c.152-5150C>G c.6099C>G (p.Ser2033Arg) c.5904C>G (p.Ser1968Arg) c.6072C>G (p.Ser2024Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280341G= | CA2241587339 | ANKRD11 | c.6201C= (p.Ser2067=) c.*6004C= (n.*6004C=) c.745-5150C= (n.745-5150C=) c.152-5150C= c.6099C= (p.Ser2033=) c.5904C= (p.Ser1968=) c.6072C= (p.Ser2024=) | |
| 16 | g.89280341G>T | CA397151751 | ANKRD11 | c.6201C>A (p.Ser2067Arg) c.*6004C>A (n.*6004C>A) c.745-5150C>A (n.745-5150C>A) c.152-5150C>A c.6099C>A (p.Ser2033Arg) c.5904C>A (p.Ser1968Arg) c.6072C>A (p.Ser2024Arg) | gnomAD v4 |
| 16 | g.89280342C>A | CA397151756 | ANKRD11 | c.6200G>T (p.Ser2067Ile) c.*6003G>T (n.*6003G>T) c.745-5151G>T (n.745-5151G>T) c.152-5151G>T c.6098G>T (p.Ser2033Ile) c.5903G>T (p.Ser1968Ile) c.6071G>T (p.Ser2024Ile) | gnomAD v4 |
| 16 | g.89280342C= | CA2241587340 | ANKRD11 | c.6200G= (p.Ser2067=) c.*6003G= (n.*6003G=) c.745-5151G= (n.745-5151G=) c.152-5151G= c.6098G= (p.Ser2033=) c.5903G= (p.Ser1968=) c.6071G= (p.Ser2024=) | |
| 16 | g.89280342C>G | CA397151758 | ANKRD11 | c.6200G>C (p.Ser2067Thr) c.*6003G>C (n.*6003G>C) c.745-5151G>C (n.745-5151G>C) c.152-5151G>C c.6098G>C (p.Ser2033Thr) c.5903G>C (p.Ser1968Thr) c.6071G>C (p.Ser2024Thr) | |
| 16 | g.89280342C>T | CA397151760 | ANKRD11 | c.6200G>A (p.Ser2067Asn) c.*6003G>A (n.*6003G>A) c.745-5151G>A (n.745-5151G>A) c.152-5151G>A c.6098G>A (p.Ser2033Asn) c.5903G>A (p.Ser1968Asn) c.6071G>A (p.Ser2024Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280343T>A | CA397151763 | ANKRD11 | c.6199A>T (p.Ser2067Cys) c.*6002A>T (n.*6002A>T) c.745-5152A>T (n.745-5152A>T) c.152-5152A>T c.6097A>T (p.Ser2033Cys) c.5902A>T (p.Ser1968Cys) c.6070A>T (p.Ser2024Cys) | |
| 16 | g.89280343T>C | CA397151764 | ANKRD11 | c.6199A>G (p.Ser2067Gly) c.*6002A>G (n.*6002A>G) c.745-5152A>G (n.745-5152A>G) c.152-5152A>G c.6097A>G (p.Ser2033Gly) c.5902A>G (p.Ser1968Gly) c.6070A>G (p.Ser2024Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280343T>G | CA397151766 | ANKRD11 | c.6199A>C (p.Ser2067Arg) c.*6002A>C (n.*6002A>C) c.745-5152A>C (n.745-5152A>C) c.152-5152A>C c.6097A>C (p.Ser2033Arg) c.5902A>C (p.Ser1968Arg) c.6070A>C (p.Ser2024Arg) | dbSNP |
| 16 | g.89280343T= | CA2241587342 | ANKRD11 | c.6199A= (p.Ser2067=) c.*6002A= (n.*6002A=) c.745-5152A= (n.745-5152A=) c.152-5152A= c.6097A= (p.Ser2033=) c.5902A= (p.Ser1968=) c.6070A= (p.Ser2024=) | |
| 16 | g.89280343_89280346delinsTGAA | CA2241587341 | ANKRD11 | c.6196_6199delinsTTCA (p.Phe2066=) c.*5999_*6002delinsTTCA (n.*5999_*6002delinsTTCA) c.745-5155_745-5152delinsTTCA (n.745-5155_745-5152delinsTTCA) c.152-5155_152-5152delinsTTCA c.6094_6097delinsTTCA (p.Phe2032=) c.5899_5902delinsTTCA (p.Phe1967=) c.6067_6070delinsTTCA (p.Phe2023=) |