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.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 | |
| X | g.22047152A>G | CA327518451 | PHEX | n.716A>G n.544+14029A>G c.290A>G (p.Asp97Gly) c.-2A>G (n.-2A>G) n.969A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.22047152A>T | CA412567717 | PHEX | n.716A>T n.544+14029A>T c.290A>T (p.Asp97Val) c.-2A>T (n.-2A>T) n.969A>T | |
| X | g.22047153T>A | CA412567718 | PHEX | n.717T>A n.544+14030T>A c.291T>A (p.Asp97Glu) c.-1T>A (n.-1T>A) n.970T>A | |
| X | g.22047153T>C | CA515424467 | PHEX | n.717T>C n.544+14030T>C c.291T>C (p.Asp97=) c.-1T>C (n.-1T>C) n.970T>C | |
| X | g.22047153T>G | CA412567719 | PHEX | n.717T>G n.544+14030T>G c.291T>G (p.Asp97Glu) c.-1T>G (n.-1T>G) n.970T>G | |
| X | g.22047157_22047166del | CA2697552893 | PHEX | n.721_730del n.544+14034_544+14043del c.295_304del (p.Pro99GlyfsTer6) c.4_13del (p.Pro2GlyfsTer6) n.974_983del | ClinVar |
| X | g.22047154A>C | CA412567722 | PHEX | n.718A>C n.544+14031A>C c.292A>C (p.Met98Leu) c.1A>C (p.Met1Leu) n.971A>C | |
| X | g.22047154A>G | CA412567721 | PHEX | n.718A>G n.544+14031A>G c.292A>G (p.Met98Val) c.1A>G (p.Met1Val) n.971A>G | |
| X | g.22047154A>T | CA412567720 | PHEX | n.718A>T n.544+14031A>T c.292A>T (p.Met98Leu) c.1A>T (p.Met1Leu) n.971A>T | |
| X | g.22047154dup | CA2697552894 | PHEX | n.718dup n.544+14031dup c.292dup (p.Met98AsnfsTer13) c.1dup (p.Met1AsnfsTer13) n.971dup | ClinVar |
| X | g.22047155T>A | CA412567723 | PHEX | n.719T>A n.544+14032T>A c.293T>A (p.Met98Lys) c.2T>A (p.Met1Lys) n.972T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22047155T>C | CA412567724 | PHEX | n.719T>C n.544+14032T>C c.293T>C (p.Met98Thr) c.2T>C (p.Met1Thr) n.972T>C | |
| X | g.22047155T>G | CA412567725 | PHEX | n.719T>G n.544+14032T>G c.293T>G (p.Met98Arg) c.2T>G (p.Met1Arg) n.972T>G | |
| X | g.22047155T= | CA2419152380 | PHEX | n.719T= n.544+14032T= c.293T= (p.Met98=) c.2T= (p.Met1=) n.972T= | |
| X | g.22047156G>A | CA412567726 | PHEX | n.720G>A n.544+14033G>A c.294G>A (p.Met98Ile) c.3G>A (p.Met1Ile) n.973G>A | |
| X | g.22047156G>C | CA412567727 | PHEX | n.720G>C n.544+14033G>C c.294G>C (p.Met98Ile) c.3G>C (p.Met1Ile) n.973G>C | |
| X | g.22047156G>T | CA412567728 | PHEX | n.720G>T n.544+14033G>T c.294G>T (p.Met98Ile) c.3G>T (p.Met1Ile) n.973G>T | |
| X | g.22047156_22047157insAAGAG | CA2695231444 | PHEX | n.720_721insAAGAG n.544+14033_544+14034insAAGAG c.294_295insAAGAG (p.Pro99LysfsTer11) c.3_4insAAGAG (p.Pro2LysfsTer11) n.973_974insAAGAG | |
| X | g.22047157C>A | CA412567729 | PHEX | n.721C>A n.544+14034C>A c.295C>A (p.Pro99Thr) c.4C>A (p.Pro2Thr) n.974C>A | |
| X | g.22047157C= | CA2419152381 | PHEX | n.721C= n.544+14034C= c.295C= (p.Pro99=) c.4C= (p.Pro2=) n.974C= | |
| X | g.22047157C>G | CA412567731 | PHEX | n.721C>G n.544+14034C>G c.295C>G (p.Pro99Ala) c.4C>G (p.Pro2Ala) n.974C>G | |
| X | g.22047157C>T | CA412567730 | PHEX | n.721C>T n.544+14034C>T c.295C>T (p.Pro99Ser) c.4C>T (p.Pro2Ser) n.974C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.22047158C>A | CA412567732 | PHEX | n.722C>A n.544+14035C>A c.296C>A (p.Pro99Gln) c.5C>A (p.Pro2Gln) n.975C>A | |
| X | g.22047158C= | CA2419152382 | PHEX | n.722C= n.544+14035C= c.296C= (p.Pro99=) c.5C= (p.Pro2=) n.975C= | |
| X | g.22047158C>G | CA412567733 | PHEX | n.722C>G n.544+14035C>G c.296C>G (p.Pro99Arg) c.5C>G (p.Pro2Arg) n.975C>G | |
| X | g.22047158C>T | CA412567734 | PHEX | n.722C>T n.544+14035C>T c.296C>T (p.Pro99Leu) c.5C>T (p.Pro2Leu) n.975C>T | dbSNP gnomAD v4 |
| X | g.22047159A>C | CA515424468 | PHEX | n.723A>C n.544+14036A>C c.297A>C (p.Pro99=) c.6A>C (p.Pro2=) n.976A>C | |
| X | g.22047159A>G | CA515424469 | PHEX | n.723A>G n.544+14036A>G c.297A>G (p.Pro99=) c.6A>G (p.Pro2=) n.976A>G | |
| X | g.22047159A>T | CA515424470 | PHEX | n.723A>T n.544+14036A>T c.297A>T (p.Pro99=) c.6A>T (p.Pro2=) n.976A>T | |
| X | g.22047160A>C | CA412567735 | PHEX | n.724A>C n.544+14037A>C c.298A>C (p.Ser100Arg) c.7A>C (p.Ser3Arg) n.977A>C | |
| X | g.22047160A>G | CA412567736 | PHEX | n.724A>G n.544+14037A>G c.298A>G (p.Ser100Gly) c.7A>G (p.Ser3Gly) n.977A>G | |
| X | g.22047160A>T | CA412567737 | PHEX | n.724A>T n.544+14037A>T c.298A>T (p.Ser100Cys) c.7A>T (p.Ser3Cys) n.977A>T | |
| X | g.22047161G>A | CA10368012 | PHEX | n.725G>A n.544+14038G>A c.299G>A (p.Ser100Asn) c.8G>A (p.Ser3Asn) n.978G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22047161G>C | CA412567738 | PHEX | n.725G>C n.544+14038G>C c.299G>C (p.Ser100Thr) c.8G>C (p.Ser3Thr) n.978G>C | |
| X | g.22047161G= | CA2419152383 | PHEX | n.725G= n.544+14038G= c.299G= (p.Ser100=) c.8G= (p.Ser3=) n.978G= | |
| X | g.22047161G>T | CA412567739 | PHEX | n.725G>T n.544+14038G>T c.299G>T (p.Ser100Ile) c.8G>T (p.Ser3Ile) n.978G>T | |
| X | g.22047162C>A | CA412567740 | PHEX | n.726C>A n.544+14039C>A c.300C>A (p.Ser100Arg) c.9C>A (p.Ser3Arg) n.979C>A | gnomAD v4 |
| X | g.22047162C>G | CA412567741 | PHEX | n.726C>G n.544+14039C>G c.300C>G (p.Ser100Arg) c.9C>G (p.Ser3Arg) n.979C>G |