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 |
|---|---|---|---|---|---|
| 12 | g.102893268_102899867delinsCAGGTGCC | CA229463 | PAH | c.169-4949_352+1467delinsGGCACCTG c.154-4949_337+1467delinsGGCACCTG n.91-4949_274+1467delinsGGCACCTG n.265-4949_448+1467delinsGGCACCTG c.153-4949_336+1467delinsGGCACCTG n.258-4949_441+1467delinsGGCACCTG | ClinVar |
| 12 | g.102893268_102899868delinsCAGGTGCC | CA916084112 | PAH | c.169-4950_352+1467delinsGGCACCTG c.154-4950_337+1467delinsGGCACCTG n.91-4950_274+1467delinsGGCACCTG n.265-4950_448+1467delinsGGCACCTG c.153-4950_336+1467delinsGGCACCTG n.258-4950_441+1467delinsGGCACCTG | |
| 12 | g.102893272_102899867delinsCCTG | CA229465 | PAH | c.169-4949_352+1463delinsCAGG c.154-4949_337+1463delinsCAGG n.91-4949_274+1463delinsCAGG n.265-4949_448+1463delinsCAGG c.153-4949_336+1463delinsCAGG n.258-4949_441+1463delinsCAGG | |
| 12 | g.102894733_102894917delinsACCTGTGTCTTTCTTCTTATCTCGTGAAAGCTCATGGACAGTGGCACCAATGTCATGCCTCAAGATCTTGATGATGTTTGTCAGAGCAGGCAGGCTACGTTTATCCAAATGGGTGAAAAATTCATACTCATCTTTCTTTAAACGAGAAGGTCTAGATTCAATGTGGGTCAGGTTTACATCATTCT | CA2059466529 | PAH | c.170_352+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.155_337+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.92_274+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.266_448+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.154_336+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.259_441+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT | |
| 12 | g.102894737_102894920del | CA16020769 | PAH | c.170_352+1del c.155_337+1del n.92_274+1del n.266_448+1del c.154_336+1del n.259_441+1del | dbSNP |
| 12 | g.102894744_102894747del | CA229518 | PAH | c.344_347del (p.Lys115ThrfsTer?) c.329_332del (p.Lys110ThrfsTer?) n.266_269del n.440_443del c.328_331del n.433_436del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894748_102894750del | CA658821469 | PAH | c.342_344del (p.Lys115del) c.327_329del (p.Lys110del) n.264_266del n.438_440del c.326_328del n.431_433del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894746T>A | CA386303944 | PAH | c.341A>T (p.Lys114Met) c.326A>T (p.Lys109Met) n.263A>T n.437A>T c.325A>T n.430A>T | |
| 12 | g.102894746T>C | CA386303945 | PAH | c.341A>G (p.Lys114Arg) c.326A>G (p.Lys109Arg) n.263A>G n.437A>G c.325A>G n.430A>G | |
| 12 | g.102894746T>G | CA386303946 | PAH | c.341A>C (p.Lys114Thr) c.326A>C (p.Lys109Thr) n.263A>C n.437A>C c.325A>C n.430A>C | |
| 12 | g.102894747_102894750del | CA16020767 | PAH | c.338_341del (p.Lys113ArgfsTer?) c.323_326del (p.Lys108ArgfsTer?) n.260_263del n.434_437del c.322_325del n.427_430del | ClinVar |
| 12 | g.102894747T>A | CA386303949 | PAH | c.340A>T (p.Lys114Ter) c.325A>T (p.Lys109Ter) n.262A>T n.436A>T c.324A>T n.429A>T | |
| 12 | g.102894747T>C | CA386303948 | PAH | c.340A>G (p.Lys114Glu) c.325A>G (p.Lys109Glu) n.262A>G n.436A>G c.324A>G n.429A>G | |
| 12 | g.102894747T>G | CA386303947 | PAH | c.340A>C (p.Lys114Gln) c.325A>C (p.Lys109Gln) n.262A>C n.436A>C c.324A>C n.429A>C | |
| 12 | g.102894748C>A | CA386303950 | PAH | c.339G>T (p.Lys113Asn) c.324G>T (p.Lys108Asn) n.261G>T n.435G>T c.323G>T n.428G>T | |
| 12 | g.102894748C>G | CA386303951 | PAH | c.339G>C (p.Lys113Asn) c.324G>C (p.Lys108Asn) n.261G>C n.435G>C c.323G>C n.428G>C | |
| 12 | g.102894748C>T | CA481333138 | PAH | c.339G>A (p.Lys113=) c.324G>A (p.Lys108=) n.261G>A n.435G>A c.323G>A n.428G>A | ClinVar COSMIC |
| 12 | g.102894749T>A | CA386303952 | PAH | c.338A>T (p.Lys113Met) c.323A>T (p.Lys108Met) n.260A>T n.434A>T c.322A>T n.427A>T | |
| 12 | g.102894749T>C | CA386303953 | PAH | c.338A>G (p.Lys113Arg) c.323A>G (p.Lys108Arg) n.260A>G n.434A>G c.322A>G n.427A>G | |
| 12 | g.102894749T>G | CA386303954 | PAH | c.338A>C (p.Lys113Thr) c.323A>C (p.Lys108Thr) n.260A>C n.434A>C c.322A>C n.427A>C | |
| 12 | g.102894750T>A | CA386303955 | PAH | c.337A>T (p.Lys113Ter) c.322A>T (p.Lys108Ter) n.259A>T n.433A>T c.321A>T n.426A>T | ClinVar |
| 12 | g.102894750T>C | CA386303956 | PAH | c.337A>G (p.Lys113Glu) c.322A>G (p.Lys108Glu) n.259A>G n.433A>G c.321A>G n.426A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102894750T>G | CA386303957 | PAH | c.337A>C (p.Lys113Gln) c.322A>C (p.Lys108Gln) n.259A>C n.433A>C c.321A>C n.426A>C | |
| 12 | g.102894750T= | CA2059466565 | PAH | c.337A= (p.Lys113=) c.322A= (p.Lys108=) n.259A= n.433A= c.321A= n.426A= | |
| 12 | g.102894751A>C | CA386303958 | PAH | c.336T>G (p.Asp112Glu) c.321T>G (p.Asp107Glu) n.258T>G n.432T>G c.320T>G n.425T>G | |
| 12 | g.102894751A>G | CA481333140 | PAH | c.336T>C (p.Asp112=) c.321T>C (p.Asp107=) n.258T>C n.432T>C c.320T>C n.425T>C | |
| 12 | g.102894751A>T | CA386303959 | PAH | c.336T>A (p.Asp112Glu) c.321T>A (p.Asp107Glu) n.258T>A n.432T>A c.320T>A n.425T>A | |
| 12 | g.102894752T>A | CA386303960 | PAH | c.335A>T (p.Asp112Val) c.320A>T (p.Asp107Val) n.257A>T n.431A>T c.319A>T n.424A>T | |
| 12 | g.102894752T>C | CA386303961 | PAH | c.335A>G (p.Asp112Gly) c.320A>G (p.Asp107Gly) n.257A>G n.431A>G c.319A>G n.424A>G | |
| 12 | g.102894752T>G | CA386303962 | PAH | c.335A>C (p.Asp112Ala) c.320A>C (p.Asp107Ala) n.257A>C n.431A>C c.319A>C n.424A>C | |
| 12 | g.102894752dup | CA2695217166 | PAH | c.335dup (p.Asp112GlufsTer2) c.320dup (p.Asp107GlufsTer2) n.257dup n.431dup c.319dup n.424dup | |
| 12 | g.102894753C>A | CA386303965 | PAH | c.334G>T (p.Asp112Tyr) c.319G>T (p.Asp107Tyr) n.256G>T n.430G>T c.318G>T n.423G>T | |
| 12 | g.102894753C= | CA2059466567 | PAH | c.334G= (p.Asp112=) c.319G= (p.Asp107=) n.256G= n.430G= c.318G= n.423G= | |
| 12 | g.102894753C>G | CA386303964 | PAH | c.334G>C (p.Asp112His) c.319G>C (p.Asp107His) n.256G>C n.430G>C c.318G>C n.423G>C | dbSNP |
| 12 | g.102894753C>T | CA386303963 | PAH | c.334G>A (p.Asp112Asn) c.319G>A (p.Asp107Asn) n.256G>A n.430G>A c.318G>A n.423G>A | |
| 12 | g.102894754T>A | CA481333142 | PAH | c.333A>T (p.Arg111=) c.318A>T (p.Arg106=) n.255A>T n.429A>T c.317A>T n.422A>T | |
| 12 | g.102894754T>C | CA481333143 | PAH | c.333A>G (p.Arg111=) c.318A>G (p.Arg106=) n.255A>G n.429A>G c.317A>G n.422A>G | |
| 12 | g.102894754T>G | CA481333144 | PAH | c.333A>C (p.Arg111=) c.318A>C (p.Arg106=) n.255A>C n.429A>C c.317A>C n.422A>C | |
| 12 | g.102894755C>A | CA386303967 | PAH | c.332G>T (p.Arg111Leu) c.317G>T (p.Arg106Leu) n.254G>T n.428G>T c.316G>T n.421G>T | |
| 12 | g.102894755C= | CA2059466571 | PAH | c.332G= (p.Arg111=) c.317G= (p.Arg106=) n.254G= n.428G= c.316G= n.421G= | |
| 12 | g.102894755C>G | CA386303966 | PAH | c.332G>C (p.Arg111Pro) c.317G>C (p.Arg106Pro) n.254G>C n.428G>C c.316G>C n.421G>C | |
| 12 | g.102894755C>T | CA242509652 | PAH | c.332G>A (p.Arg111Gln) c.317G>A (p.Arg106Gln) n.254G>A n.428G>A c.316G>A n.421G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102894756G>A | CA251526 | PAH | c.331C>T (p.Arg111Ter) c.316C>T (p.Arg106Ter) n.253C>T n.427C>T c.315C>T n.420C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102894756G>C | CA386303968 | PAH | c.331C>G (p.Arg111Gly) c.316C>G (p.Arg106Gly) n.253C>G n.427C>G c.315C>G n.420C>G | |
| 12 | g.102894756G= | CA2059466574 | PAH | c.331C= (p.Arg111=) c.316C= (p.Arg106=) n.253C= n.427C= c.315C= n.420C= | |
| 12 | g.102894756G>T | CA481333146 | PAH | c.331C>A (p.Arg111=) c.316C>A (p.Arg106=) n.253C>A n.427C>A c.315C>A n.420C>A | |
| 12 | g.102894757T>A | CA481333147 | PAH | c.330A>T (p.Ser110=) c.315A>T (p.Ser105=) n.252A>T n.426A>T c.314A>T n.419A>T | |
| 12 | g.102894757T>C | CA6748983 | PAH | c.330A>G (p.Ser110=) c.315A>G (p.Ser105=) n.252A>G n.426A>G c.314A>G n.419A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894757T>G | CA481333148 | PAH | c.330A>C (p.Ser110=) c.315A>C (p.Ser105=) n.252A>C n.426A>C c.314A>C n.419A>C | |
| 12 | g.102894757T= | CA2059466579 | PAH | c.330A= (p.Ser110=) c.315A= (p.Ser105=) n.252A= n.426A= c.314A= n.419A= |