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.89280120_89280141dup | CA2695201158 | ANKRD11 | c.6401_6422dup (p.Pro2142AlafsTer12) c.*6204_*6225dup (n.*6204_*6225dup) c.745-4950_745-4929dup (n.745-4950_745-4929dup) c.152-4950_152-4929dup c.6299_6320dup (p.Pro2108AlafsTer12) c.6104_6125dup (p.Pro2043AlafsTer12) c.6272_6293dup (p.Pro2099AlafsTer12) | ClinVar |
| 16 | g.89280136A>C | CA397151214 | ANKRD11 | c.6406T>G (p.Phe2136Val) c.*6209T>G (n.*6209T>G) c.745-4945T>G (n.745-4945T>G) c.152-4945T>G c.6304T>G (p.Phe2102Val) c.6109T>G (p.Phe2037Val) c.6277T>G (p.Phe2093Val) | |
| 16 | g.89280136A>G | CA397151215 | ANKRD11 | c.6406T>C (p.Phe2136Leu) c.*6209T>C (n.*6209T>C) c.745-4945T>C (n.745-4945T>C) c.152-4945T>C c.6304T>C (p.Phe2102Leu) c.6109T>C (p.Phe2037Leu) c.6277T>C (p.Phe2093Leu) | |
| 16 | g.89280136A>T | CA397151216 | ANKRD11 | c.6406T>A (p.Phe2136Ile) c.*6209T>A (n.*6209T>A) c.745-4945T>A (n.745-4945T>A) c.152-4945T>A c.6304T>A (p.Phe2102Ile) c.6109T>A (p.Phe2037Ile) c.6277T>A (p.Phe2093Ile) | |
| 16 | g.89280137G>A | CA497373295 | ANKRD11 | c.6405C>T (p.Pro2135=) c.*6208C>T (n.*6208C>T) c.745-4946C>T (n.745-4946C>T) c.152-4946C>T c.6303C>T (p.Pro2101=) c.6108C>T (p.Pro2036=) c.6276C>T (p.Pro2092=) | gnomAD v4 |
| 16 | g.89280137G>C | CA497373296 | ANKRD11 | c.6405C>G (p.Pro2135=) c.*6208C>G (n.*6208C>G) c.745-4946C>G (n.745-4946C>G) c.152-4946C>G c.6303C>G (p.Pro2101=) c.6108C>G (p.Pro2036=) c.6276C>G (p.Pro2092=) | |
| 16 | g.89280137G>T | CA497373297 | ANKRD11 | c.6405C>A (p.Pro2135=) c.*6208C>A (n.*6208C>A) c.745-4946C>A (n.745-4946C>A) c.152-4946C>A c.6303C>A (p.Pro2101=) c.6108C>A (p.Pro2036=) c.6276C>A (p.Pro2092=) | gnomAD v4 |
| 16 | g.89280138G>A | CA397151217 | ANKRD11 | c.6404C>T (p.Pro2135Leu) c.*6207C>T (n.*6207C>T) c.745-4947C>T (n.745-4947C>T) c.152-4947C>T c.6302C>T (p.Pro2101Leu) c.6107C>T (p.Pro2036Leu) c.6275C>T (p.Pro2092Leu) | gnomAD v4 |
| 16 | g.89280138G>C | CA397151218 | ANKRD11 | c.6404C>G (p.Pro2135Arg) c.*6207C>G (n.*6207C>G) c.745-4947C>G (n.745-4947C>G) c.152-4947C>G c.6302C>G (p.Pro2101Arg) c.6107C>G (p.Pro2036Arg) c.6275C>G (p.Pro2092Arg) | gnomAD v4 |
| 16 | g.89280138G>T | CA397151219 | ANKRD11 | c.6404C>A (p.Pro2135His) c.*6207C>A (n.*6207C>A) c.745-4947C>A (n.745-4947C>A) c.152-4947C>A c.6302C>A (p.Pro2101His) c.6107C>A (p.Pro2036His) c.6275C>A (p.Pro2092His) | |
| 16 | g.89280139G>A | CA286510281 | ANKRD11 | c.6403C>T (p.Pro2135Ser) c.*6206C>T (n.*6206C>T) c.745-4948C>T (n.745-4948C>T) c.152-4948C>T c.6301C>T (p.Pro2101Ser) c.6106C>T (p.Pro2036Ser) c.6274C>T (p.Pro2092Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280139G>C | CA397151221 | ANKRD11 | c.6403C>G (p.Pro2135Ala) c.*6206C>G (n.*6206C>G) c.745-4948C>G (n.745-4948C>G) c.152-4948C>G c.6301C>G (p.Pro2101Ala) c.6106C>G (p.Pro2036Ala) c.6274C>G (p.Pro2092Ala) | |
| 16 | g.89280139G= | CA2241587195 | ANKRD11 | c.6403C= (p.Pro2135=) c.*6206C= (n.*6206C=) c.745-4948C= (n.745-4948C=) c.152-4948C= c.6301C= (p.Pro2101=) c.6106C= (p.Pro2036=) c.6274C= (p.Pro2092=) | |
| 16 | g.89280139G>T | CA397151220 | ANKRD11 | c.6403C>A (p.Pro2135Thr) c.*6206C>A (n.*6206C>A) c.745-4948C>A (n.745-4948C>A) c.152-4948C>A c.6301C>A (p.Pro2101Thr) c.6106C>A (p.Pro2036Thr) c.6274C>A (p.Pro2092Thr) | ClinVar gnomAD v4 |
| 16 | g.89280140C>A | CA497373299 | ANKRD11 | c.6402G>T (p.Gly2134=) c.*6205G>T (n.*6205G>T) c.745-4949G>T (n.745-4949G>T) c.152-4949G>T c.6300G>T (p.Gly2100=) c.6105G>T (p.Gly2035=) c.6273G>T (p.Gly2091=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280140C= | CA2241587196 | ANKRD11 | c.6402G= (p.Gly2134=) c.*6205G= (n.*6205G=) c.745-4949G= (n.745-4949G=) c.152-4949G= c.6300G= (p.Gly2100=) c.6105G= (p.Gly2035=) c.6273G= (p.Gly2091=) | |
| 16 | g.89280140C>G | CA497373300 | ANKRD11 | c.6402G>C (p.Gly2134=) c.*6205G>C (n.*6205G>C) c.745-4949G>C (n.745-4949G>C) c.152-4949G>C c.6300G>C (p.Gly2100=) c.6105G>C (p.Gly2035=) c.6273G>C (p.Gly2091=) | |
| 16 | g.89280140C>T | CA8241462 | ANKRD11 | c.6402G>A (p.Gly2134=) c.*6205G>A (n.*6205G>A) c.745-4949G>A (n.745-4949G>A) c.152-4949G>A c.6300G>A (p.Gly2100=) c.6105G>A (p.Gly2035=) c.6273G>A (p.Gly2091=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280143del | CA2573054294 | ANKRD11 | c.6402del (p.Phe2136SerfsTer?) c.*6205del (n.*6205del) c.745-4949del (n.745-4949del) c.152-4949del c.6300del (p.Phe2102SerfsTer?) c.6105del (p.Phe2037SerfsTer?) c.6273del (p.Phe2093SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89280141C>A | CA397151222 | ANKRD11 | c.6401G>T (p.Gly2134Val) c.*6204G>T (n.*6204G>T) c.745-4950G>T (n.745-4950G>T) c.152-4950G>T c.6299G>T (p.Gly2100Val) c.6104G>T (p.Gly2035Val) c.6272G>T (p.Gly2091Val) | |
| 16 | g.89280141C>G | CA397151223 | ANKRD11 | c.6401G>C (p.Gly2134Ala) c.*6204G>C (n.*6204G>C) c.745-4950G>C (n.745-4950G>C) c.152-4950G>C c.6299G>C (p.Gly2100Ala) c.6104G>C (p.Gly2035Ala) c.6272G>C (p.Gly2091Ala) | |
| 16 | g.89280141C>T | CA397151224 | ANKRD11 | c.6401G>A (p.Gly2134Glu) c.*6204G>A (n.*6204G>A) c.745-4950G>A (n.745-4950G>A) c.152-4950G>A c.6299G>A (p.Gly2100Glu) c.6104G>A (p.Gly2035Glu) c.6272G>A (p.Gly2091Glu) | COSMIC |
| 16 | g.89280142C>A | CA397151225 | ANKRD11 | c.6400G>T (p.Gly2134Trp) c.*6203G>T (n.*6203G>T) c.745-4951G>T (n.745-4951G>T) c.152-4951G>T c.6298G>T (p.Gly2100Trp) c.6103G>T (p.Gly2035Trp) c.6271G>T (p.Gly2091Trp) | |
| 16 | g.89280142C>G | CA397151226 | ANKRD11 | c.6400G>C (p.Gly2134Arg) c.*6203G>C (n.*6203G>C) c.745-4951G>C (n.745-4951G>C) c.152-4951G>C c.6298G>C (p.Gly2100Arg) c.6103G>C (p.Gly2035Arg) c.6271G>C (p.Gly2091Arg) | |
| 16 | g.89280142C>T | CA397151227 | ANKRD11 | c.6400G>A (p.Gly2134Arg) c.*6203G>A (n.*6203G>A) c.745-4951G>A (n.745-4951G>A) c.152-4951G>A c.6298G>A (p.Gly2100Arg) c.6103G>A (p.Gly2035Arg) c.6271G>A (p.Gly2091Arg) | |
| 16 | g.89280143C>A | CA497373307 | ANKRD11 | c.6399G>T (p.Leu2133=) c.*6202G>T (n.*6202G>T) c.745-4952G>T (n.745-4952G>T) c.152-4952G>T c.6297G>T (p.Leu2099=) c.6102G>T (p.Leu2034=) c.6270G>T (p.Leu2090=) | |
| 16 | g.89280143C>G | CA497373308 | ANKRD11 | c.6399G>C (p.Leu2133=) c.*6202G>C (n.*6202G>C) c.745-4952G>C (n.745-4952G>C) c.152-4952G>C c.6297G>C (p.Leu2099=) c.6102G>C (p.Leu2034=) c.6270G>C (p.Leu2090=) | |
| 16 | g.89280143C>T | CA497373309 | ANKRD11 | c.6399G>A (p.Leu2133=) c.*6202G>A (n.*6202G>A) c.745-4952G>A (n.745-4952G>A) c.152-4952G>A c.6297G>A (p.Leu2099=) c.6102G>A (p.Leu2034=) c.6270G>A (p.Leu2090=) | |
| 16 | g.89280144A>C | CA397151228 | ANKRD11 | c.6398T>G (p.Leu2133Arg) c.*6201T>G (n.*6201T>G) c.745-4953T>G (n.745-4953T>G) c.152-4953T>G c.6296T>G (p.Leu2099Arg) c.6101T>G (p.Leu2034Arg) c.6269T>G (p.Leu2090Arg) | |
| 16 | g.89280144A>G | CA397151230 | ANKRD11 | c.6398T>C (p.Leu2133Pro) c.*6201T>C (n.*6201T>C) c.745-4953T>C (n.745-4953T>C) c.152-4953T>C c.6296T>C (p.Leu2099Pro) c.6101T>C (p.Leu2034Pro) c.6269T>C (p.Leu2090Pro) | gnomAD v4 |
| 16 | g.89280144A>T | CA397151229 | ANKRD11 | c.6398T>A (p.Leu2133Gln) c.*6201T>A (n.*6201T>A) c.745-4953T>A (n.745-4953T>A) c.152-4953T>A c.6296T>A (p.Leu2099Gln) c.6101T>A (p.Leu2034Gln) c.6269T>A (p.Leu2090Gln) | |
| 16 | g.89280145G>A | CA497373311 | ANKRD11 | c.6397C>T (p.Leu2133=) c.*6200C>T (n.*6200C>T) c.745-4954C>T (n.745-4954C>T) c.152-4954C>T c.6295C>T (p.Leu2099=) c.6100C>T (p.Leu2034=) c.6268C>T (p.Leu2090=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280145G>C | CA397151231 | ANKRD11 | c.6397C>G (p.Leu2133Val) c.*6200C>G (n.*6200C>G) c.745-4954C>G (n.745-4954C>G) c.152-4954C>G c.6295C>G (p.Leu2099Val) c.6100C>G (p.Leu2034Val) c.6268C>G (p.Leu2090Val) | dbSNP |
| 16 | g.89280145G= | CA2241587197 | ANKRD11 | c.6397C= (p.Leu2133=) c.*6200C= (n.*6200C=) c.745-4954C= (n.745-4954C=) c.152-4954C= c.6295C= (p.Leu2099=) c.6100C= (p.Leu2034=) c.6268C= (p.Leu2090=) | |
| 16 | g.89280145G>T | CA397151232 | ANKRD11 | c.6397C>A (p.Leu2133Met) c.*6200C>A (n.*6200C>A) c.745-4954C>A (n.745-4954C>A) c.152-4954C>A c.6295C>A (p.Leu2099Met) c.6100C>A (p.Leu2034Met) c.6268C>A (p.Leu2090Met) | |
| 16 | g.89280146G>A | CA8241463 | ANKRD11 | c.6396C>T (p.Asp2132=) c.*6199C>T (n.*6199C>T) c.745-4955C>T (n.745-4955C>T) c.152-4955C>T c.6294C>T (p.Asp2098=) c.6099C>T (p.Asp2033=) c.6267C>T (p.Asp2089=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280146G>C | CA286510282 | ANKRD11 | c.6396C>G (p.Asp2132Glu) c.*6199C>G (n.*6199C>G) c.745-4955C>G (n.745-4955C>G) c.152-4955C>G c.6294C>G (p.Asp2098Glu) c.6099C>G (p.Asp2033Glu) c.6267C>G (p.Asp2089Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280146G= | CA2241587198 | ANKRD11 | c.6396C= (p.Asp2132=) c.*6199C= (n.*6199C=) c.745-4955C= (n.745-4955C=) c.152-4955C= c.6294C= (p.Asp2098=) c.6099C= (p.Asp2033=) c.6267C= (p.Asp2089=) | |
| 16 | g.89280146G>T | CA397151233 | ANKRD11 | c.6396C>A (p.Asp2132Glu) c.*6199C>A (n.*6199C>A) c.745-4955C>A (n.745-4955C>A) c.152-4955C>A c.6294C>A (p.Asp2098Glu) c.6099C>A (p.Asp2033Glu) c.6267C>A (p.Asp2089Glu) | dbSNP |
| 16 | g.89280150_89280179del | CA2634942354 | ANKRD11 | c.6367_6396del (p.Ala2123_Asp2132del) c.*6170_*6199del (n.*6170_*6199del) c.745-4984_745-4955del (n.745-4984_745-4955del) c.152-4984_152-4955del c.6265_6294del (p.Ala2089_Asp2098del) c.6070_6099del (p.Ala2024_Asp2033del) c.6238_6267del (p.Ala2080_Asp2089del) | gnomAD v4 |
| 16 | g.89280147T>A | CA286510283 | ANKRD11 | c.6395A>T (p.Asp2132Val) c.*6198A>T (n.*6198A>T) c.745-4956A>T (n.745-4956A>T) c.152-4956A>T c.6293A>T (p.Asp2098Val) c.6098A>T (p.Asp2033Val) c.6266A>T (p.Asp2089Val) | dbSNP gnomAD v4 |
| 16 | g.89280147T>C | CA397151234 | ANKRD11 | c.6395A>G (p.Asp2132Gly) c.*6198A>G (n.*6198A>G) c.745-4956A>G (n.745-4956A>G) c.152-4956A>G c.6293A>G (p.Asp2098Gly) c.6098A>G (p.Asp2033Gly) c.6266A>G (p.Asp2089Gly) | |
| 16 | g.89280147T>G | CA397151235 | ANKRD11 | c.6395A>C (p.Asp2132Ala) c.*6198A>C (n.*6198A>C) c.745-4956A>C (n.745-4956A>C) c.152-4956A>C c.6293A>C (p.Asp2098Ala) c.6098A>C (p.Asp2033Ala) c.6266A>C (p.Asp2089Ala) | |
| 16 | g.89280147T= | CA2241587199 | ANKRD11 | c.6395A= (p.Asp2132=) c.*6198A= (n.*6198A=) c.745-4956A= (n.745-4956A=) c.152-4956A= c.6293A= (p.Asp2098=) c.6098A= (p.Asp2033=) c.6266A= (p.Asp2089=) | |
| 16 | g.89280147_89280148delinsAT | CA2573054295 | ANKRD11 | c.6394_6395delinsAT (p.Asp2132Ile) c.*6197_*6198delinsAT (n.*6197_*6198delinsAT) c.745-4957_745-4956delinsAT (n.745-4957_745-4956delinsAT) c.152-4957_152-4956delinsAT c.6292_6293delinsAT (p.Asp2098Ile) c.6097_6098delinsAT (p.Asp2033Ile) c.6265_6266delinsAT (p.Asp2089Ile) | ClinVar dbSNP |
| 16 | g.89280148C>A | CA397151236 | ANKRD11 | c.6394G>T (p.Asp2132Tyr) c.*6197G>T (n.*6197G>T) c.745-4957G>T (n.745-4957G>T) c.152-4957G>T c.6292G>T (p.Asp2098Tyr) c.6097G>T (p.Asp2033Tyr) c.6265G>T (p.Asp2089Tyr) | |
| 16 | g.89280148C= | CA2241587200 | ANKRD11 | c.6394G= (p.Asp2132=) c.*6197G= (n.*6197G=) c.745-4957G= (n.745-4957G=) c.152-4957G= c.6292G= (p.Asp2098=) c.6097G= (p.Asp2033=) c.6265G= (p.Asp2089=) | |
| 16 | g.89280148C>G | CA397151237 | ANKRD11 | c.6394G>C (p.Asp2132His) c.*6197G>C (n.*6197G>C) c.745-4957G>C (n.745-4957G>C) c.152-4957G>C c.6292G>C (p.Asp2098His) c.6097G>C (p.Asp2033His) c.6265G>C (p.Asp2089His) | |
| 16 | g.89280148C>T | CA286510285 | ANKRD11 | c.6394G>A (p.Asp2132Asn) c.*6197G>A (n.*6197G>A) c.745-4957G>A (n.745-4957G>A) c.152-4957G>A c.6292G>A (p.Asp2098Asn) c.6097G>A (p.Asp2033Asn) c.6265G>A (p.Asp2089Asn) | dbSNP gnomAD v4 |
| 16 | g.89280149C>A | CA8241464 | ANKRD11 | c.6393G>T (p.Leu2131=) c.*6196G>T (n.*6196G>T) c.745-4958G>T (n.745-4958G>T) c.152-4958G>T c.6291G>T (p.Leu2097=) c.6096G>T (p.Leu2032=) c.6264G>T (p.Leu2088=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |