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 |
|---|---|---|---|---|---|
| 1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
| 1 | g.161306886_161306890dup | CA658653649 | MPZ | c.266_270dup (p.Glu91LeufsTer14) c.-323_-319dup (n.-323_-319dup) n.329_333dup c.10_14dup c.296_300dup (p.Glu101LeufsTer14) | ClinVar dbSNP |
| 1 | g.161306888_161306893del | CA2695199902 | MPZ | c.265_270del (p.Ile89_Asp90del) c.-324_-319del (n.-324_-319del) n.328_333del c.9_14del c.295_300del (p.Ile99_Asp100del) | ClinVar |
| 1 | g.161306890A= | CA1143538438 | MPZ | c.266T= (p.Ile89=) c.-323T= (n.-323T=) n.329T= c.10T= c.296T= (p.Ile99=) | |
| 1 | g.161306890A>C | CA343349820 | MPZ | c.266T>G (p.Ile89Ser) c.-323T>G (n.-323T>G) n.329T>G c.10T>G c.296T>G (p.Ile99Ser) | |
| 1 | g.161306890A>G | CA343900 | MPZ | c.266T>C (p.Ile89Thr) c.-323T>C (n.-323T>C) n.329T>C c.10T>C c.296T>C (p.Ile99Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306890A>T | CA351452 | MPZ | c.266T>A (p.Ile89Asn) c.-323T>A (n.-323T>A) n.329T>A c.10T>A c.296T>A (p.Ile99Asn) | ClinVar dbSNP |
| 1 | g.161306890_161306898delinsATGTAGGGT | CA1202689850 | MPZ | c.258_266delinsACCCTACAT (p.Gln86=) c.-331_-323delinsACCCTACAT (n.-331_-323delinsACCCTACAT) n.321_329delinsACCCTACAT c.2_10delinsACCCTACAT c.288_296delinsACCCTACAT (p.Gln96=) | |
| 1 | g.161306891T>A | CA343349825 | MPZ | c.265A>T (p.Ile89Phe) c.-324A>T (n.-324A>T) n.328A>T c.9A>T c.295A>T (p.Ile99Phe) | |
| 1 | g.161306891T>C | CA343349827 | MPZ | c.265A>G (p.Ile89Val) c.-324A>G (n.-324A>G) n.328A>G c.9A>G c.295A>G (p.Ile99Val) | gnomAD v4 |
| 1 | g.161306891T>G | CA343349829 | MPZ | c.265A>C (p.Ile89Leu) c.-324A>C (n.-324A>C) n.328A>C c.9A>C c.295A>C (p.Ile99Leu) | |
| 1 | g.161306891_161306898delinsAGAGG | CA915943872 | MPZ | c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) c.-331_-324delinsCCTCT (n.-331_-324delinsCCTCT) n.321_328delinsCCTCT c.2_9delinsCCTCT c.288_295delinsCCTCT (p.Gln96_Ile99delinsHisLeuPhe) | ClinVar dbSNP |
| 1 | g.161306892G>A | CA421405292 | MPZ | c.264C>T (p.Tyr88=) c.-325C>T (n.-325C>T) n.327C>T c.8C>T c.294C>T (p.Tyr98=) | |
| 1 | g.161306892G>C | CA343349832 | MPZ | c.264C>G (p.Tyr88Ter) c.-325C>G (n.-325C>G) n.327C>G c.8C>G c.294C>G (p.Tyr98Ter) | |
| 1 | g.161306892G>T | CA343349835 | MPZ | c.264C>A (p.Tyr88Ter) c.-325C>A (n.-325C>A) n.327C>A c.8C>A c.294C>A (p.Tyr98Ter) | |
| 1 | g.161306893T>A | CA343349844 | MPZ | c.263A>T (p.Tyr88Phe) c.-326A>T (n.-326A>T) n.326A>T c.7A>T c.293A>T (p.Tyr98Phe) | dbSNP gnomAD v4 |
| 1 | g.161306893T>C | CA343349847 | MPZ | c.263A>G (p.Tyr88Cys) c.-326A>G (n.-326A>G) n.326A>G c.7A>G c.293A>G (p.Tyr98Cys) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.161306893T>G | CA343349849 | MPZ | c.263A>C (p.Tyr88Ser) c.-326A>C (n.-326A>C) n.326A>C c.7A>C c.293A>C (p.Tyr98Ser) | ClinVar dbSNP |
| 1 | g.161306893T= | CA1202689864 | MPZ | c.263A= (p.Tyr88=) c.-326A= (n.-326A=) n.326A= c.7A= c.293A= (p.Tyr98=) | |
| 1 | g.161306894_161306899dup | CA2580061342 | MPZ | c.258_263dup (p.Tyr88Ter) c.-331_-326dup (n.-331_-326dup) n.321_326dup c.2_7dup c.288_293dup (p.Tyr98Ter) | ClinVar |
| 1 | g.161306894A>C | CA343349852 | MPZ | c.262T>G (p.Tyr88Asp) c.-327T>G (n.-327T>G) n.325T>G c.6T>G c.292T>G (p.Tyr98Asp) | |
| 1 | g.161306894A>G | CA343349853 | MPZ | c.262T>C (p.Tyr88His) c.-327T>C (n.-327T>C) n.325T>C c.6T>C c.292T>C (p.Tyr98His) | |
| 1 | g.161306894A>T | CA343349854 | MPZ | c.262T>A (p.Tyr88Asn) c.-327T>A (n.-327T>A) n.325T>A c.6T>A c.292T>A (p.Tyr98Asn) | ClinVar |
| 1 | g.161306895G>A | CA421405296 | MPZ | c.261C>T (p.Pro87=) c.-328C>T (n.-328C>T) n.324C>T c.5C>T c.291C>T (p.Pro97=) | |
| 1 | g.161306895G>C | CA421405298 | MPZ | c.261C>G (p.Pro87=) c.-328C>G (n.-328C>G) n.324C>G c.5C>G c.291C>G (p.Pro97=) | gnomAD v4 |
| 1 | g.161306895G= | CA1202689870 | MPZ | c.261C= (p.Pro87=) c.-328C= (n.-328C=) n.324C= c.5C= c.291C= (p.Pro97=) | |
| 1 | g.161306895G>T | CA421405297 | MPZ | c.261C>A (p.Pro87=) c.-328C>A (n.-328C>A) n.324C>A c.5C>A c.291C>A (p.Pro97=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306896G>A | CA343349861 | MPZ | c.260C>T (p.Pro87Leu) c.-329C>T (n.-329C>T) n.323C>T c.4C>T c.290C>T (p.Pro97Leu) | |
| 1 | g.161306896G>C | CA343349859 | MPZ | c.260C>G (p.Pro87Arg) c.-329C>G (n.-329C>G) n.323C>G c.4C>G c.290C>G (p.Pro97Arg) | |
| 1 | g.161306896G= | CA1202689874 | MPZ | c.260C= (p.Pro87=) c.-329C= (n.-329C=) n.323C= c.4C= c.290C= (p.Pro97=) | |
| 1 | g.161306896G>T | CA343349857 | MPZ | c.260C>A (p.Pro87His) c.-329C>A (n.-329C>A) n.323C>A c.4C>A c.290C>A (p.Pro97His) | ClinVar dbSNP |
| 1 | g.161306897G>A | CA1210190 | MPZ | c.259C>T (p.Pro87Ser) c.-330C>T (n.-330C>T) n.322C>T c.3C>T c.289C>T (p.Pro97Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306897G>C | CA343349868 | MPZ | c.259C>G (p.Pro87Ala) c.-330C>G (n.-330C>G) n.322C>G c.3C>G c.289C>G (p.Pro97Ala) | |
| 1 | g.161306897G= | CA1202689880 | MPZ | c.259C= (p.Pro87=) c.-330C= (n.-330C=) n.322C= c.3C= c.289C= (p.Pro97=) | |
| 1 | g.161306897G>T | CA343349866 | MPZ | c.259C>A (p.Pro87Thr) c.-330C>A (n.-330C>A) n.322C>A c.3C>A c.289C>A (p.Pro97Thr) | COSMIC COSMIC |
| 1 | g.161306898T>A | CA343349872 | MPZ | c.258A>T (p.Gln86His) c.-331A>T (n.-331A>T) n.321A>T c.2A>T c.288A>T (p.Gln96His) | |
| 1 | g.161306898T>C | CA421405299 | MPZ | c.258A>G (p.Gln86=) c.-331A>G (n.-331A>G) n.321A>G c.2A>G c.288A>G (p.Gln96=) | COSMIC COSMIC |
| 1 | g.161306898T>G | CA343349875 | MPZ | c.258A>C (p.Gln86His) c.-331A>C (n.-331A>C) n.321A>C c.2A>C c.288A>C (p.Gln96His) | |
| 1 | g.161306899T>A | CA343349883 | MPZ | c.257A>T (p.Gln86Leu) c.-332A>T (n.-332A>T) n.320A>T c.1A>T c.287A>T (p.Gln96Leu) | |
| 1 | g.161306899T>C | CA343349891 | MPZ | c.257A>G (p.Gln86Arg) c.-332A>G (n.-332A>G) n.320A>G c.1A>G c.287A>G (p.Gln96Arg) | |
| 1 | g.161306899T>G | CA343349886 | MPZ | c.257A>C (p.Gln86Pro) c.-332A>C (n.-332A>C) n.320A>C c.1A>C c.287A>C (p.Gln96Pro) | ClinVar dbSNP |
| 1 | g.161306899T= | CA1202689884 | MPZ | c.257A= (p.Gln86=) c.-332A= (n.-332A=) n.320A= c.1A= c.287A= (p.Gln96=) | |
| 1 | g.161306900G>A | CA343349897 | MPZ | c.256C>T (p.Gln86Ter) c.-333C>T (n.-333C>T) n.319C>T c.286C>T (p.Gln96Ter) | ClinVar dbSNP |
| 1 | g.161306900G>C | CA343349903 | MPZ | c.256C>G (p.Gln86Glu) c.-333C>G (n.-333C>G) n.319C>G c.286C>G (p.Gln96Glu) | |
| 1 | g.161306900G= | CA1202689888 | MPZ | c.256C= (p.Gln86=) c.-333C= (n.-333C=) n.319C= c.286C= (p.Gln96=) | |
| 1 | g.161306900G>T | CA343349916 | MPZ | c.256C>A (p.Gln86Lys) c.-333C>A (n.-333C>A) n.319C>A c.286C>A (p.Gln96Lys) | |
| 1 | g.161306901T>A | CA421405303 | MPZ | c.255A>T (p.Gly85=) c.-334A>T (n.-334A>T) n.318A>T c.285A>T (p.Gly95=) | |
| 1 | g.161306901T>C | CA421405301 | MPZ | c.255A>G (p.Gly85=) c.-334A>G (n.-334A>G) n.318A>G c.285A>G (p.Gly95=) | |
| 1 | g.161306901T>G | CA421405302 | MPZ | c.255A>C (p.Gly85=) c.-334A>C (n.-334A>C) n.318A>C c.285A>C (p.Gly95=) | |
| 1 | g.161306901_161306902delinsTC | CA1202689891 | MPZ | c.254_255delinsGA (p.Gly85=) c.-335_-334delinsGA (n.-335_-334delinsGA) n.317_318delinsGA c.284_285delinsGA (p.Gly95=) |