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 |
|---|---|---|---|---|---|
| X | g.22047150_22048047delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA | CA2419152378 | PHEX | n.714_775+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA n.544+14027_544+14924delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA c.288_349+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA c.-4_58+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA n.967_1028+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA | |
| X | g.22047151_22048047delinsAAGATATGCCT | CA1139667280 | PHEX | n.715_775+836delinsAAGATATGCCT n.544+14028_544+14924delinsAAGATATGCCT c.289_349+836delinsAAGATATGCCT c.-3_58+836delinsAAGATATGCCT n.968_1028+836delinsAAGATATGCCT | ClinVar dbSNP |
| X | g.22047184A>C | CA515425002 | PHEX | n.748A>C n.544+14061A>C c.322A>C (p.Arg108=) c.-121A>C (n.-121A>C) c.31A>C (p.Arg11=) n.1001A>C | |
| X | g.22047184A>G | CA412568050 | PHEX | n.748A>G n.544+14061A>G c.322A>G (p.Arg108Gly) c.-121A>G (n.-121A>G) c.31A>G (p.Arg11Gly) n.1001A>G | gnomAD v4 |
| X | g.22047184A>T | CA412568051 | PHEX | n.748A>T n.544+14061A>T c.322A>T (p.Arg108Ter) c.-121A>T (n.-121A>T) c.31A>T (p.Arg11Ter) n.1001A>T | |
| X | g.22047185G>A | CA412568052 | PHEX | n.749G>A n.544+14062G>A c.323G>A (p.Arg108Lys) c.-120G>A (n.-120G>A) c.32G>A (p.Arg11Lys) n.1002G>A | |
| X | g.22047185G>C | CA412568053 | PHEX | n.749G>C n.544+14062G>C c.323G>C (p.Arg108Thr) c.-120G>C (n.-120G>C) c.32G>C (p.Arg11Thr) n.1002G>C | |
| X | g.22047185G>T | CA412568054 | PHEX | n.749G>T n.544+14062G>T c.323G>T (p.Arg108Ile) c.-120G>T (n.-120G>T) c.32G>T (p.Arg11Ile) n.1002G>T | |
| X | g.22047186A= | CA2419152393 | PHEX | n.750A= n.544+14063A= c.324A= (p.Arg108=) c.-119A= (n.-119A=) c.33A= (p.Arg11=) n.1003A= | |
| X | g.22047186A>C | CA412568055 | PHEX | n.750A>C n.544+14063A>C c.324A>C (p.Arg108Ser) c.-119A>C (n.-119A>C) c.33A>C (p.Arg11Ser) n.1003A>C | |
| X | g.22047186A>G | CA10368015 | PHEX | n.750A>G n.544+14063A>G c.324A>G (p.Arg108=) c.-119A>G (n.-119A>G) c.33A>G (p.Arg11=) n.1003A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22047186A>T | CA412568056 | PHEX | n.750A>T n.544+14063A>T c.324A>T (p.Arg108Ser) c.-119A>T (n.-119A>T) c.33A>T (p.Arg11Ser) n.1003A>T | |
| X | g.22047187_22047188dup | CA2695231446 | PHEX | n.751_752dup n.544+14064_544+14065dup c.325_326dup (p.Asn110IlefsTer7) c.-118_-117dup (n.-118_-117dup) c.34_35dup (p.Asn13IlefsTer7) n.1004_1005dup | |
| X | g.22047187C>A | CA412568057 | PHEX | n.751C>A n.544+14064C>A c.325C>A (p.His109Asn) c.-118C>A (n.-118C>A) c.34C>A (p.His12Asn) n.1004C>A | |
| X | g.22047187C= | CA2419152394 | PHEX | n.751C= n.544+14064C= c.325C= (p.His109=) c.-118C= (n.-118C=) c.34C= (p.His12=) n.1004C= | |
| X | g.22047187C>G | CA412568058 | PHEX | n.751C>G n.544+14064C>G c.325C>G (p.His109Asp) c.-118C>G (n.-118C>G) c.34C>G (p.His12Asp) n.1004C>G | dbSNP |
| X | g.22047187C>T | CA327518452 | PHEX | n.751C>T n.544+14064C>T c.325C>T (p.His109Tyr) c.-118C>T (n.-118C>T) c.34C>T (p.His12Tyr) n.1004C>T | dbSNP gnomAD v4 |
| X | g.22047188A>C | CA412568062 | PHEX | n.752A>C n.544+14065A>C c.326A>C (p.His109Pro) c.-117A>C (n.-117A>C) c.35A>C (p.His12Pro) n.1005A>C | |
| X | g.22047188A>G | CA412568060 | PHEX | n.752A>G n.544+14065A>G c.326A>G (p.His109Arg) c.-117A>G (n.-117A>G) c.35A>G (p.His12Arg) n.1005A>G | gnomAD v4 |
| X | g.22047188A>T | CA412568059 | PHEX | n.752A>T n.544+14065A>T c.326A>T (p.His109Leu) c.-117A>T (n.-117A>T) c.35A>T (p.His12Leu) n.1005A>T | |
| X | g.22047190_22047192del | CA2580100474 | PHEX | n.754_756del n.544+14067_544+14069del c.328_330del (p.Asn110del) c.-115_-113del (n.-115_-113del) c.37_39del (p.Asn13del) n.1007_1009del | ClinVar |
| X | g.22047189del | CA2695231447 | PHEX | n.753del n.544+14066del c.327del (p.His109GlnfsTer7) c.-116del (n.-116del) c.36del (p.His12GlnfsTer7) n.1006del | |
| X | g.22047189T>A | CA412568064 | PHEX | n.753T>A n.544+14066T>A c.327T>A (p.His109Gln) c.-116T>A (n.-116T>A) c.36T>A (p.His12Gln) n.1006T>A | |
| X | g.22047189T>C | CA515425022 | PHEX | n.753T>C n.544+14066T>C c.327T>C (p.His109=) c.-116T>C (n.-116T>C) c.36T>C (p.His12=) n.1006T>C | |
| X | g.22047189T>G | CA412568066 | PHEX | n.753T>G n.544+14066T>G c.327T>G (p.His109Gln) c.-116T>G (n.-116T>G) c.36T>G (p.His12Gln) n.1006T>G | |
| X | g.22047190A>C | CA412568068 | PHEX | n.754A>C n.544+14067A>C c.328A>C (p.Asn110His) c.-115A>C (n.-115A>C) c.37A>C (p.Asn13His) n.1007A>C | |
| X | g.22047190A>G | CA412568070 | PHEX | n.754A>G n.544+14067A>G c.328A>G (p.Asn110Asp) c.-115A>G (n.-115A>G) c.37A>G (p.Asn13Asp) n.1007A>G | |
| X | g.22047190A>T | CA412568072 | PHEX | n.754A>T n.544+14067A>T c.328A>T (p.Asn110Tyr) c.-115A>T (n.-115A>T) c.37A>T (p.Asn13Tyr) n.1007A>T | |
| X | g.22047191dup | CA2740092060 | PHEX | n.755dup n.544+14068dup c.329dup (p.Asn110LysfsTer3) c.-114dup (n.-114dup) c.38dup (p.Asn13LysfsTer3) n.1008dup | ClinVar |
| X | g.22047191A>C | CA412568074 | PHEX | n.755A>C n.544+14068A>C c.329A>C (p.Asn110Thr) c.-114A>C (n.-114A>C) c.38A>C (p.Asn13Thr) n.1008A>C | |
| X | g.22047191A>G | CA412568076 | PHEX | n.755A>G n.544+14068A>G c.329A>G (p.Asn110Ser) c.-114A>G (n.-114A>G) c.38A>G (p.Asn13Ser) n.1008A>G | gnomAD v4 |
| X | g.22047191A>T | CA412568078 | PHEX | n.755A>T n.544+14068A>T c.329A>T (p.Asn110Ile) c.-114A>T (n.-114A>T) c.38A>T (p.Asn13Ile) n.1008A>T | |
| X | g.22047191_22047194delinsATGT | CA2419152395 | PHEX | n.755_758delinsATGT n.544+14068_544+14071delinsATGT c.329_332delinsATGT (p.Asn110=) c.-114_-111delinsATGT (n.-114_-111delinsATGT) c.38_41delinsATGT (p.Asn13=) n.1008_1011delinsATGT | |
| X | g.22047192T>A | CA412568080 | PHEX | n.756T>A n.544+14069T>A c.330T>A (p.Asn110Lys) c.-113T>A (n.-113T>A) c.39T>A (p.Asn13Lys) n.1009T>A | |
| X | g.22047192T>C | CA515425032 | PHEX | n.756T>C n.544+14069T>C c.330T>C (p.Asn110=) c.-113T>C (n.-113T>C) c.39T>C (p.Asn13=) n.1009T>C | gnomAD v4 |
| X | g.22047192T>G | CA412568082 | PHEX | n.756T>G n.544+14069T>G c.330T>G (p.Asn110Lys) c.-113T>G (n.-113T>G) c.39T>G (p.Asn13Lys) n.1009T>G | |
| X | g.22047194_22047196del | CA16621307 | PHEX | n.758_760del n.544+14071_544+14073del c.332_334del (p.Val111del) c.-111_-109del (n.-111_-109del) c.41_43del (p.Val14del) n.1011_1013del | ClinVar dbSNP |
| X | g.22047193G>A | CA412568084 | PHEX | n.757G>A n.544+14070G>A c.331G>A (p.Val111Ile) c.-112G>A (n.-112G>A) c.40G>A (p.Val14Ile) n.1010G>A | |
| X | g.22047193G>C | CA412568086 | PHEX | n.757G>C n.544+14070G>C c.331G>C (p.Val111Leu) c.-112G>C (n.-112G>C) c.40G>C (p.Val14Leu) n.1010G>C | |
| X | g.22047193G>T | CA412568088 | PHEX | n.757G>T n.544+14070G>T c.331G>T (p.Val111Phe) c.-112G>T (n.-112G>T) c.40G>T (p.Val14Phe) n.1010G>T | |
| X | g.22047194T>A | CA412568091 | PHEX | n.758T>A n.544+14071T>A c.332T>A (p.Val111Asp) c.-111T>A (n.-111T>A) c.41T>A (p.Val14Asp) n.1011T>A | |
| X | g.22047194T>C | CA412568094 | PHEX | n.758T>C n.544+14071T>C c.332T>C (p.Val111Ala) c.-111T>C (n.-111T>C) c.41T>C (p.Val14Ala) n.1011T>C | gnomAD v4 |
| X | g.22047194T>G | CA412568092 | PHEX | n.758T>G n.544+14071T>G c.332T>G (p.Val111Gly) c.-111T>G (n.-111T>G) c.41T>G (p.Val14Gly) n.1011T>G | |
| X | g.22047195T>A | CA515425044 | PHEX | n.759T>A n.544+14072T>A c.333T>A (p.Val111=) c.-110T>A (n.-110T>A) c.42T>A (p.Val14=) n.1012T>A | |
| X | g.22047195T>C | CA515425046 | PHEX | n.759T>C n.544+14072T>C c.333T>C (p.Val111=) c.-110T>C (n.-110T>C) c.42T>C (p.Val14=) n.1012T>C | |
| X | g.22047195T>G | CA515425048 | PHEX | n.759T>G n.544+14072T>G c.333T>G (p.Val111=) c.-110T>G (n.-110T>G) c.42T>G (p.Val14=) n.1012T>G | |
| X | g.22047196G>A | CA412568096 | PHEX | n.760G>A n.544+14073G>A c.334G>A (p.Asp112Asn) c.-109G>A (n.-109G>A) c.43G>A (p.Asp15Asn) n.1013G>A | |
| X | g.22047196G>C | CA412568098 | PHEX | n.760G>C n.544+14073G>C c.334G>C (p.Asp112His) c.-109G>C (n.-109G>C) c.43G>C (p.Asp15His) n.1013G>C | gnomAD v4 |
| X | g.22047196G>T | CA412568100 | PHEX | n.760G>T n.544+14073G>T c.334G>T (p.Asp112Tyr) c.-109G>T (n.-109G>T) c.43G>T (p.Asp15Tyr) n.1013G>T | |
| X | g.22047197A>C | CA412568102 | PHEX | n.761A>C n.544+14074A>C c.335A>C (p.Asp112Ala) c.-108A>C (n.-108A>C) c.44A>C (p.Asp15Ala) n.1014A>C |