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.22047136_22047142delinsAATCCAA | CA2419152371 | PHEX | n.700_706delinsAATCCAA n.544+14013_544+14019delinsAATCCAA c.274_280delinsAATCCAA (p.Asn92=) c.-18_-12delinsAATCCAA (n.-18_-12delinsAATCCAA) n.953_959delinsAATCCAA | |
| X | g.22047137_22047142delinsT | CA1139667279 | PHEX | n.701_706delinsT n.544+14014_544+14019delinsT c.275_280delinsT (p.Asn92IlefsTer17) c.-17_-12delinsT (n.-17_-12delinsT) n.954_959delinsT | ClinVar dbSNP |
| X | g.22047140C>A | CA412567691 | PHEX | n.704C>A n.544+14017C>A c.278C>A (p.Pro93Gln) c.-14C>A (n.-14C>A) n.957C>A | |
| X | g.22047140C>G | CA412567692 | PHEX | n.704C>G n.544+14017C>G c.278C>G (p.Pro93Arg) c.-14C>G (n.-14C>G) n.957C>G | |
| X | g.22047140C>T | CA412567693 | PHEX | n.704C>T n.544+14017C>T c.278C>T (p.Pro93Leu) c.-14C>T (n.-14C>T) n.957C>T | |
| X | g.22047141A>C | CA515424454 | PHEX | n.705A>C n.544+14018A>C c.279A>C (p.Pro93=) c.-13A>C (n.-13A>C) n.958A>C | |
| X | g.22047141A>G | CA515424455 | PHEX | n.705A>G n.544+14018A>G c.279A>G (p.Pro93=) c.-13A>G (n.-13A>G) n.958A>G | |
| X | g.22047141A>T | CA515424458 | PHEX | n.705A>T n.544+14018A>T c.279A>T (p.Pro93=) c.-13A>T (n.-13A>T) n.958A>T | |
| X | g.22047142A= | CA2419152372 | PHEX | n.706A= n.544+14019A= c.280A= (p.Ile94=) c.-12A= (n.-12A=) n.959A= | |
| X | g.22047142A>C | CA412567694 | PHEX | n.706A>C n.544+14019A>C c.280A>C (p.Ile94Leu) c.-12A>C (n.-12A>C) n.959A>C | |
| X | g.22047142A>G | CA10368009 | PHEX | n.706A>G n.544+14019A>G c.280A>G (p.Ile94Val) c.-12A>G (n.-12A>G) n.959A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22047142A>T | CA412567695 | PHEX | n.706A>T n.544+14019A>T c.280A>T (p.Ile94Phe) c.-12A>T (n.-12A>T) n.959A>T | |
| X | g.22047142_22047143delinsAT | CA2419152373 | PHEX | n.706_707delinsAT n.544+14019_544+14020delinsAT c.280_281delinsAT (p.Ile94=) c.-12_-11delinsAT (n.-12_-11delinsAT) n.959_960delinsAT | |
| X | g.22047143T>A | CA412567696 | PHEX | n.707T>A n.544+14020T>A c.281T>A (p.Ile94Asn) c.-11T>A (n.-11T>A) n.960T>A | |
| X | g.22047143T>C | CA412567697 | PHEX | n.707T>C n.544+14020T>C c.281T>C (p.Ile94Thr) c.-11T>C (n.-11T>C) n.960T>C | |
| X | g.22047143T>G | CA412567698 | PHEX | n.707T>G n.544+14020T>G c.281T>G (p.Ile94Ser) c.-11T>G (n.-11T>G) n.960T>G | |
| X | g.22047144del | CA915950887 | PHEX | n.708del n.544+14021del c.282del (p.Glu96LysfsTer12) c.-10del (n.-10del) n.961del | ClinVar dbSNP |
| X | g.22047144T>A | CA515424463 | PHEX | n.708T>A n.544+14021T>A c.282T>A (p.Ile94=) c.-10T>A (n.-10T>A) n.961T>A | |
| X | g.22047144T>C | CA515424464 | PHEX | n.708T>C n.544+14021T>C c.282T>C (p.Ile94=) c.-10T>C (n.-10T>C) n.961T>C | |
| X | g.22047144T>G | CA412567699 | PHEX | n.708T>G n.544+14021T>G c.282T>G (p.Ile94Met) c.-10T>G (n.-10T>G) n.961T>G | |
| X | g.22047145C>A | CA412567700 | PHEX | n.709C>A n.544+14022C>A c.283C>A (p.Pro95Thr) c.-9C>A (n.-9C>A) n.962C>A | |
| X | g.22047145C= | CA2419152374 | PHEX | n.709C= n.544+14022C= c.283C= (p.Pro95=) c.-9C= (n.-9C=) n.962C= | |
| X | g.22047145C>G | CA412567701 | PHEX | n.709C>G n.544+14022C>G c.283C>G (p.Pro95Ala) c.-9C>G (n.-9C>G) n.962C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.22047145C>T | CA412567702 | PHEX | n.709C>T n.544+14022C>T c.283C>T (p.Pro95Ser) c.-9C>T (n.-9C>T) n.962C>T | |
| X | g.22047146C>A | CA412567703 | PHEX | n.710C>A n.544+14023C>A c.284C>A (p.Pro95His) c.-8C>A (n.-8C>A) n.963C>A | |
| X | g.22047146C>G | CA412567704 | PHEX | n.710C>G n.544+14023C>G c.284C>G (p.Pro95Arg) c.-8C>G (n.-8C>G) n.963C>G | |
| X | g.22047146C>T | CA412567705 | PHEX | n.710C>T n.544+14023C>T c.284C>T (p.Pro95Leu) c.-8C>T (n.-8C>T) n.963C>T | gnomAD v4 |
| X | g.22047147C>A | CA515424465 | PHEX | n.711C>A n.544+14024C>A c.285C>A (p.Pro95=) c.-7C>A (n.-7C>A) n.964C>A | |
| X | g.22047147C= | CA2419152375 | PHEX | n.711C= n.544+14024C= c.285C= (p.Pro95=) c.-7C= (n.-7C=) n.964C= | |
| X | g.22047147C>G | CA10653876 | PHEX | n.711C>G n.544+14024C>G c.285C>G (p.Pro95=) c.-7C>G (n.-7C>G) n.964C>G | ClinVar dbSNP gnomAD v4 |
| X | g.22047147C>T | CA515424466 | PHEX | n.711C>T n.544+14024C>T c.285C>T (p.Pro95=) c.-7C>T (n.-7C>T) n.964C>T | gnomAD v4 |
| X | g.22047148G>A | CA10368010 | PHEX | n.712G>A n.544+14025G>A c.286G>A (p.Glu96Lys) c.-6G>A (n.-6G>A) n.965G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.22047148G>C | CA412567707 | PHEX | n.712G>C n.544+14025G>C c.286G>C (p.Glu96Gln) c.-6G>C (n.-6G>C) n.965G>C | |
| X | g.22047148G= | CA2419152376 | PHEX | n.712G= n.544+14025G= c.286G= (p.Glu96=) c.-6G= (n.-6G=) n.965G= | |
| X | g.22047148G>T | CA412567706 | PHEX | n.712G>T n.544+14025G>T c.286G>T (p.Glu96Ter) c.-6G>T (n.-6G>T) n.965G>T | |
| X | g.22047149A>C | CA412567708 | PHEX | n.713A>C n.544+14026A>C c.287A>C (p.Glu96Ala) c.-5A>C (n.-5A>C) n.966A>C | |
| X | g.22047149A>G | CA412567710 | PHEX | n.713A>G n.544+14026A>G c.287A>G (p.Glu96Gly) c.-5A>G (n.-5A>G) n.966A>G | |
| X | g.22047149A>T | CA412567709 | PHEX | n.713A>T n.544+14026A>T c.287A>T (p.Glu96Val) c.-5A>T (n.-5A>T) n.966A>T | |
| X | g.22047150del | CA2695231443 | PHEX | n.714del n.544+14027del c.288del (p.Asp97IlefsTer11) c.-4del (n.-4del) n.967del | |
| X | g.22047150A= | CA2419152377 | PHEX | n.714A= n.544+14027A= c.288A= (p.Glu96=) c.-4A= (n.-4A=) n.967A= | |
| X | g.22047150A>C | CA412567711 | PHEX | n.714A>C n.544+14027A>C c.288A>C (p.Glu96Asp) c.-4A>C (n.-4A>C) n.967A>C | |
| X | g.22047150A>G | CA10368011 | PHEX | n.714A>G n.544+14027A>G c.288A>G (p.Glu96=) c.-4A>G (n.-4A>G) n.967A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22047150A>T | CA412567712 | PHEX | n.714A>T n.544+14027A>T c.288A>T (p.Glu96Asp) c.-4A>T (n.-4A>T) n.967A>T | dbSNP |
| 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.22047151G>A | CA412567713 | PHEX | n.715G>A n.544+14028G>A c.289G>A (p.Asp97Asn) c.-3G>A (n.-3G>A) n.968G>A | |
| X | g.22047151G>C | CA412567715 | PHEX | n.715G>C n.544+14028G>C c.289G>C (p.Asp97His) c.-3G>C (n.-3G>C) n.968G>C | |
| X | g.22047151G>T | CA412567714 | PHEX | n.715G>T n.544+14028G>T c.289G>T (p.Asp97Tyr) c.-3G>T (n.-3G>T) n.968G>T | |
| 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.22047152A= | CA2419152379 | PHEX | n.716A= n.544+14029A= c.290A= (p.Asp97=) c.-2A= (n.-2A=) n.969A= | |
| X | g.22047152A>C | CA412567716 | PHEX | n.716A>C n.544+14029A>C c.290A>C (p.Asp97Ala) c.-2A>C (n.-2A>C) n.969A>C |