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 |
|---|---|---|---|---|---|
| 16 | g.68822046_68822049delinsCTGA | CA2229980385 | CDH1 | c.1757_1760delinsCTGA (p.Ser586=) c.1574_1577delinsCTGA (p.Ser525=) n.1828_1831delinsCTGA c.*423_*426delinsCTGA (n.*423_*426delinsCTGA) c.1611_1614delinsCTGA (p.Val537=) c.1820_1823delinsCTGA (p.Ser607=) c.1022_1025delinsCTGA (p.Ser341=) c.209_212delinsCTGA (p.Ser70=) c.-209_-206delinsCTGA (n.-209_-206delinsCTGA) | |
| 16 | g.68822047T>A | CA496392535 | CDH1 | c.1758T>A (p.Ser586=) c.1575T>A (p.Ser525=) n.1829T>A c.*424T>A (n.*424T>A) c.1612T>A (p.Ter538Arg) c.1821T>A (p.Ser607=) c.1023T>A (p.Ser341=) c.210T>A (p.Ser70=) c.-208T>A (n.-208T>A) | dbSNP |
| 16 | g.68822047T>C | CA496392536 | CDH1 | c.1758T>C (p.Ser586=) c.1575T>C (p.Ser525=) n.1829T>C c.*424T>C (n.*424T>C) c.1612T>C (p.Ter538Arg) c.1821T>C (p.Ser607=) c.1023T>C (p.Ser341=) c.210T>C (p.Ser70=) c.-208T>C (n.-208T>C) | dbSNP |
| 16 | g.68822047T>G | CA496392537 | CDH1 | c.1758T>G (p.Ser586=) c.1575T>G (p.Ser525=) n.1829T>G c.*424T>G (n.*424T>G) c.1612T>G (p.Ter538Gly) c.1821T>G (p.Ser607=) c.1023T>G (p.Ser341=) c.210T>G (p.Ser70=) c.-208T>G (n.-208T>G) | |
| 16 | g.68822047T= | CA2229980391 | CDH1 | c.1758T= (p.Ser586=) c.1575T= (p.Ser525=) n.1829T= c.*424T= (n.*424T=) c.1612T= (p.Ter538=) c.1821T= (p.Ser607=) c.1023T= (p.Ser341=) c.210T= (p.Ser70=) c.-208T= (n.-208T=) | |
| 16 | g.68822049_68822051del | CA919732079 | CDH1 | c.1760_1762del (p.Asp587del) c.1577_1579del (p.Asp526del) n.1831_1833del c.*426_*428del (n.*426_*428del) c.1614_*2del (n.[c.1614_*2del;Ter538CysextTer3]) c.1823_1825del (p.Asp608del) c.1025_1027del (p.Asp342del) c.212_214del (p.Asp71del) c.-206_-204del (n.-206_-204del) | dbSNP |
| 16 | g.68822048G>A | CA396466484 | CDH1 | c.1759G>A (p.Asp587Asn) c.1576G>A (p.Asp526Asn) n.1830G>A c.*425G>A (n.*425G>A) c.1613G>A (p.Ter538=) c.1822G>A (p.Asp608Asn) c.1024G>A (p.Asp342Asn) c.211G>A (p.Asp71Asn) c.-207G>A (n.-207G>A) | dbSNP |
| 16 | g.68822048G>C | CA396466488 | CDH1 | c.1759G>C (p.Asp587His) c.1576G>C (p.Asp526His) n.1830G>C c.*425G>C (n.*425G>C) c.1613G>C (p.Ter538Ser) c.1822G>C (p.Asp608His) c.1024G>C (p.Asp342His) c.211G>C (p.Asp71His) c.-207G>C (n.-207G>C) | dbSNP COSMIC |
| 16 | g.68822048G>T | CA396466495 | CDH1 | c.1759G>T (p.Asp587Tyr) c.1576G>T (p.Asp526Tyr) n.1830G>T c.*425G>T (n.*425G>T) c.1613G>T (p.Ter538Leu) c.1822G>T (p.Asp608Tyr) c.1024G>T (p.Asp342Tyr) c.211G>T (p.Asp71Tyr) c.-207G>T (n.-207G>T) | dbSNP COSMIC |
| 16 | g.68822049A= | CA2229980400 | CDH1 | c.1760A= (p.Asp587=) c.1577A= (p.Asp526=) n.1831A= c.*426A= (n.*426A=) c.1614A= (p.Ter538=) c.1823A= (p.Asp608=) c.1025A= (p.Asp342=) c.212A= (p.Asp71=) c.-206A= (n.-206A=) | |
| 16 | g.68822049A>C | CA396466496 | CDH1 | c.1760A>C (p.Asp587Ala) c.1577A>C (p.Asp526Ala) n.1831A>C c.*426A>C (n.*426A>C) c.1614A>C (p.Ter538Cys) c.1823A>C (p.Asp608Ala) c.1025A>C (p.Asp342Ala) c.212A>C (p.Asp71Ala) c.-206A>C (n.-206A>C) | |
| 16 | g.68822049A>G | CA396466497 | CDH1 | c.1760A>G (p.Asp587Gly) c.1577A>G (p.Asp526Gly) n.1831A>G c.*426A>G (n.*426A>G) c.1614A>G (p.Ter538Trp) c.1823A>G (p.Asp608Gly) c.1025A>G (p.Asp342Gly) c.212A>G (p.Asp71Gly) c.-206A>G (n.-206A>G) | ClinVar dbSNP COSMIC |
| 16 | g.68822049A>T | CA396466498 | CDH1 | c.1760A>T (p.Asp587Val) c.1577A>T (p.Asp526Val) n.1831A>T c.*426A>T (n.*426A>T) c.1614A>T (p.Ter538Cys) c.1823A>T (p.Asp608Val) c.1025A>T (p.Asp342Val) c.212A>T (p.Asp71Val) c.-206A>T (n.-206A>T) | dbSNP gnomAD v2 |
| 16 | g.68822049_68822051delinsATG | CA2229980399 | CDH1 | c.1760_1762delinsATG (p.Asp587=) c.1577_1579delinsATG (p.Asp526=) n.1831_1833delinsATG c.*426_*428delinsATG (n.*426_*428delinsATG) c.1614_*2delinsATG (n.[c.1614_*2delinsATG;Ter538=]) c.1823_1825delinsATG (p.Asp608=) c.1025_1027delinsATG (p.Asp342=) c.212_214delinsATG (p.Asp71=) c.-206_-204delinsATG (n.-206_-204delinsATG) | |
| 16 | g.68822050T>A | CA396466500 | CDH1 | c.1761T>A (p.Asp587Glu) c.1578T>A (p.Asp526Glu) n.1832T>A c.*427T>A (n.*427T>A) c.*1T>A (n.*1T>A) c.1824T>A (p.Asp608Glu) c.1026T>A (p.Asp342Glu) c.213T>A (p.Asp71Glu) c.-205T>A (n.-205T>A) | |
| 16 | g.68822050T>C | CA496392538 | CDH1 | c.1761T>C (p.Asp587=) c.1578T>C (p.Asp526=) n.1832T>C c.*427T>C (n.*427T>C) c.*1T>C (n.*1T>C) c.1824T>C (p.Asp608=) c.1026T>C (p.Asp342=) c.213T>C (p.Asp71=) c.-205T>C (n.-205T>C) | |
| 16 | g.68822050T>G | CA396466501 | CDH1 | c.1761T>G (p.Asp587Glu) c.1578T>G (p.Asp526Glu) n.1832T>G c.*427T>G (n.*427T>G) c.*1T>G (n.*1T>G) c.1824T>G (p.Asp608Glu) c.1026T>G (p.Asp342Glu) c.213T>G (p.Asp71Glu) c.-205T>G (n.-205T>G) | |
| 16 | g.68822052_68822053del | CA916081835 | CDH1 | c.1763_1764del (p.Val588GlufsTer2) c.1580_1581del (p.Val527GlufsTer2) n.1834_1835del c.*429_*430del (n.*429_*430del) c.*3_*4del (n.*3_*4del) c.1826_1827del (p.Val609GlufsTer2) c.1028_1029del (p.Val343GlufsTer2) c.215_216del (p.Val72GlufsTer2) c.-203_-202del (n.-203_-202del) | ClinVar dbSNP |
| 16 | g.68822051G>A | CA396466505 | CDH1 | c.1762G>A (p.Val588Met) c.1579G>A (p.Val527Met) n.1833G>A c.*428G>A (n.*428G>A) c.*2G>A (n.*2G>A) c.1825G>A (p.Val609Met) c.1027G>A (p.Val343Met) c.214G>A (p.Val72Met) c.-204G>A (n.-204G>A) | dbSNP |
| 16 | g.68822051G>C | CA396466511 | CDH1 | c.1762G>C (p.Val588Leu) c.1579G>C (p.Val527Leu) n.1833G>C c.*428G>C (n.*428G>C) c.*2G>C (n.*2G>C) c.1825G>C (p.Val609Leu) c.1027G>C (p.Val343Leu) c.214G>C (p.Val72Leu) c.-204G>C (n.-204G>C) | dbSNP |
| 16 | g.68822051G>T | CA396466507 | CDH1 | c.1762G>T (p.Val588Leu) c.1579G>T (p.Val527Leu) n.1833G>T c.*428G>T (n.*428G>T) c.*2G>T (n.*2G>T) c.1825G>T (p.Val609Leu) c.1027G>T (p.Val343Leu) c.214G>T (p.Val72Leu) c.-204G>T (n.-204G>T) | |
| 16 | g.68822052T>A | CA396466512 | CDH1 | c.1763T>A (p.Val588Glu) c.1580T>A (p.Val527Glu) n.1834T>A c.*429T>A (n.*429T>A) c.*3T>A (n.*3T>A) c.1826T>A (p.Val609Glu) c.1028T>A (p.Val343Glu) c.215T>A (p.Val72Glu) c.-203T>A (n.-203T>A) | dbSNP |
| 16 | g.68822052T>C | CA396466513 | CDH1 | c.1763T>C (p.Val588Ala) c.1580T>C (p.Val527Ala) n.1834T>C c.*429T>C (n.*429T>C) c.*3T>C (n.*3T>C) c.1826T>C (p.Val609Ala) c.1028T>C (p.Val343Ala) c.215T>C (p.Val72Ala) c.-203T>C (n.-203T>C) | dbSNP |
| 16 | g.68822052T>G | CA396466514 | CDH1 | c.1763T>G (p.Val588Gly) c.1580T>G (p.Val527Gly) n.1834T>G c.*429T>G (n.*429T>G) c.*3T>G (n.*3T>G) c.1826T>G (p.Val609Gly) c.1028T>G (p.Val343Gly) c.215T>G (p.Val72Gly) c.-203T>G (n.-203T>G) | dbSNP |
| 16 | g.68822053G>A | CA496392539 | CDH1 | c.1764G>A (p.Val588=) c.1581G>A (p.Val527=) n.1835G>A c.*430G>A (n.*430G>A) c.*4G>A (n.*4G>A) c.1827G>A (p.Val609=) c.1029G>A (p.Val343=) c.216G>A (p.Val72=) c.-202G>A (n.-202G>A) | ClinVar dbSNP |
| 16 | g.68822053G>C | CA496392540 | CDH1 | c.1764G>C (p.Val588=) c.1581G>C (p.Val527=) n.1835G>C c.*430G>C (n.*430G>C) c.*4G>C (n.*4G>C) c.1827G>C (p.Val609=) c.1029G>C (p.Val343=) c.216G>C (p.Val72=) c.-202G>C (n.-202G>C) | dbSNP |
| 16 | g.68822053G>T | CA496392541 | CDH1 | c.1764G>T (p.Val588=) c.1581G>T (p.Val527=) n.1835G>T c.*430G>T (n.*430G>T) c.*4G>T (n.*4G>T) c.1827G>T (p.Val609=) c.1029G>T (p.Val343=) c.216G>T (p.Val72=) c.-202G>T (n.-202G>T) | |
| 16 | g.68822054A= | CA2229980408 | CDH1 | c.1765A= (p.Asn589=) c.1582A= (p.Asn528=) n.1836A= c.*431A= (n.*431A=) c.*5A= (n.*5A=) c.1828A= (p.Asn610=) c.1030A= (p.Asn344=) c.217A= (p.Asn73=) c.-201A= (n.-201A=) | |
| 16 | g.68822054A>C | CA396466516 | CDH1 | c.1765A>C (p.Asn589His) c.1582A>C (p.Asn528His) n.1836A>C c.*431A>C (n.*431A>C) c.*5A>C (n.*5A>C) c.1828A>C (p.Asn610His) c.1030A>C (p.Asn344His) c.217A>C (p.Asn73His) c.-201A>C (n.-201A>C) | |
| 16 | g.68822054A>G | CA8130147 | CDH1 | c.1765A>G (p.Asn589Asp) c.1582A>G (p.Asn528Asp) n.1836A>G c.*431A>G (n.*431A>G) c.*5A>G (n.*5A>G) c.1828A>G (p.Asn610Asp) c.1030A>G (p.Asn344Asp) c.217A>G (p.Asn73Asp) c.-201A>G (n.-201A>G) | dbSNP ExAC gnomAD v2 |
| 16 | g.68822054A>T | CA396466519 | CDH1 | c.1765A>T (p.Asn589Tyr) c.1582A>T (p.Asn528Tyr) n.1836A>T c.*431A>T (n.*431A>T) c.*5A>T (n.*5A>T) c.1828A>T (p.Asn610Tyr) c.1030A>T (p.Asn344Tyr) c.217A>T (p.Asn73Tyr) c.-201A>T (n.-201A>T) | dbSNP |
| 16 | g.68822055A= | CA2229980412 | CDH1 | c.1766A= (p.Asn589=) c.1583A= (p.Asn528=) n.1837A= c.*432A= (n.*432A=) c.*6A= (n.*6A=) c.1829A= (p.Asn610=) c.1031A= (p.Asn344=) c.218A= (p.Asn73=) c.-200A= (n.-200A=) | |
| 16 | g.68822055A>C | CA396466523 | CDH1 | c.1766A>C (p.Asn589Thr) c.1583A>C (p.Asn528Thr) n.1837A>C c.*432A>C (n.*432A>C) c.*6A>C (n.*6A>C) c.1829A>C (p.Asn610Thr) c.1031A>C (p.Asn344Thr) c.218A>C (p.Asn73Thr) c.-200A>C (n.-200A>C) | |
| 16 | g.68822055A>G | CA396466524 | CDH1 | c.1766A>G (p.Asn589Ser) c.1583A>G (p.Asn528Ser) n.1837A>G c.*432A>G (n.*432A>G) c.*6A>G (n.*6A>G) c.1829A>G (p.Asn610Ser) c.1031A>G (p.Asn344Ser) c.218A>G (p.Asn73Ser) c.-200A>G (n.-200A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.68822055A>T | CA396466527 | CDH1 | c.1766A>T (p.Asn589Ile) c.1583A>T (p.Asn528Ile) n.1837A>T c.*432A>T (n.*432A>T) c.*6A>T (n.*6A>T) c.1829A>T (p.Asn610Ile) c.1031A>T (p.Asn344Ile) c.218A>T (p.Asn73Ile) c.-200A>T (n.-200A>T) | ClinVar dbSNP |
| 16 | g.68822056T>A | CA396466531 | CDH1 | c.1767T>A (p.Asn589Lys) c.1584T>A (p.Asn528Lys) n.1838T>A c.*433T>A (n.*433T>A) c.*7T>A (n.*7T>A) c.1830T>A (p.Asn610Lys) c.1032T>A (p.Asn344Lys) c.219T>A (p.Asn73Lys) c.-199T>A (n.-199T>A) | dbSNP |
| 16 | g.68822056T>C | CA8130148 | CDH1 | c.1767T>C (p.Asn589=) c.1584T>C (p.Asn528=) n.1838T>C c.*433T>C (n.*433T>C) c.*7T>C (n.*7T>C) c.1830T>C (p.Asn610=) c.1032T>C (p.Asn344=) c.219T>C (p.Asn73=) c.-199T>C (n.-199T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.68822056T>G | CA396466535 | CDH1 | c.1767T>G (p.Asn589Lys) c.1584T>G (p.Asn528Lys) n.1838T>G c.*433T>G (n.*433T>G) c.*7T>G (n.*7T>G) c.1830T>G (p.Asn610Lys) c.1032T>G (p.Asn344Lys) c.219T>G (p.Asn73Lys) c.-199T>G (n.-199T>G) | dbSNP |
| 16 | g.68822056T= | CA2229980418 | CDH1 | c.1767T= (p.Asn589=) c.1584T= (p.Asn528=) n.1838T= c.*433T= (n.*433T=) c.*7T= (n.*7T=) c.1830T= (p.Asn610=) c.1032T= (p.Asn344=) c.219T= (p.Asn73=) c.-199T= (n.-199T=) | |
| 16 | g.68822057G>A | CA396466564 | CDH1 | c.1768G>A (p.Asp590Asn) c.1585G>A (p.Asp529Asn) n.1839G>A c.*434G>A (n.*434G>A) c.*8G>A (n.*8G>A) c.1831G>A (p.Asp611Asn) c.1033G>A (p.Asp345Asn) c.220G>A (p.Asp74Asn) c.-198G>A (n.-198G>A) | ClinVar dbSNP |
| 16 | g.68822057G>C | CA396466537 | CDH1 | c.1768G>C (p.Asp590His) c.1585G>C (p.Asp529His) n.1839G>C c.*434G>C (n.*434G>C) c.*8G>C (n.*8G>C) c.1831G>C (p.Asp611His) c.1033G>C (p.Asp345His) c.220G>C (p.Asp74His) c.-198G>C (n.-198G>C) | dbSNP |
| 16 | g.68822057G>T | CA396466561 | CDH1 | c.1768G>T (p.Asp590Tyr) c.1585G>T (p.Asp529Tyr) n.1839G>T c.*434G>T (n.*434G>T) c.*8G>T (n.*8G>T) c.1831G>T (p.Asp611Tyr) c.1033G>T (p.Asp345Tyr) c.220G>T (p.Asp74Tyr) c.-198G>T (n.-198G>T) | |
| 16 | g.68822058A>C | CA396466565 | CDH1 | c.1769A>C (p.Asp590Ala) c.1586A>C (p.Asp529Ala) n.1840A>C c.*435A>C (n.*435A>C) c.*9A>C (n.*9A>C) c.1832A>C (p.Asp611Ala) c.1034A>C (p.Asp345Ala) c.221A>C (p.Asp74Ala) c.-197A>C (n.-197A>C) | dbSNP |
| 16 | g.68822058A>G | CA396466567 | CDH1 | c.1769A>G (p.Asp590Gly) c.1586A>G (p.Asp529Gly) n.1840A>G c.*435A>G (n.*435A>G) c.*9A>G (n.*9A>G) c.1832A>G (p.Asp611Gly) c.1034A>G (p.Asp345Gly) c.221A>G (p.Asp74Gly) c.-197A>G (n.-197A>G) | |
| 16 | g.68822058A>T | CA396466569 | CDH1 | c.1769A>T (p.Asp590Val) c.1586A>T (p.Asp529Val) n.1840A>T c.*435A>T (n.*435A>T) c.*9A>T (n.*9A>T) c.1832A>T (p.Asp611Val) c.1034A>T (p.Asp345Val) c.221A>T (p.Asp74Val) c.-197A>T (n.-197A>T) | dbSNP |
| 16 | g.68822059C>A | CA350145 | CDH1 | c.1770C>A (p.Asp590Glu) c.1587C>A (p.Asp529Glu) n.1841C>A c.*436C>A (n.*436C>A) c.*10C>A (n.*10C>A) c.1833C>A (p.Asp611Glu) c.1035C>A (p.Asp345Glu) c.222C>A (p.Asp74Glu) c.-196C>A (n.-196C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.68822059C= | CA2229980430 | CDH1 | c.1770C= (p.Asp590=) c.1587C= (p.Asp529=) n.1841C= c.*436C= (n.*436C=) c.*10C= (n.*10C=) c.1833C= (p.Asp611=) c.1035C= (p.Asp345=) c.222C= (p.Asp74=) c.-196C= (n.-196C=) | |
| 16 | g.68822059C>G | CA396466571 | CDH1 | c.1770C>G (p.Asp590Glu) c.1587C>G (p.Asp529Glu) n.1841C>G c.*436C>G (n.*436C>G) c.*10C>G (n.*10C>G) c.1833C>G (p.Asp611Glu) c.1035C>G (p.Asp345Glu) c.222C>G (p.Asp74Glu) c.-196C>G (n.-196C>G) | dbSNP |
| 16 | g.68822059C>T | CA496392542 | CDH1 | c.1770C>T (p.Asp590=) c.1587C>T (p.Asp529=) n.1841C>T c.*436C>T (n.*436C>T) c.*10C>T (n.*10C>T) c.1833C>T (p.Asp611=) c.1035C>T (p.Asp345=) c.222C>T (p.Asp74=) c.-196C>T (n.-196C>T) | ClinVar dbSNP |
| 16 | g.68822060A= | CA2229980434 | CDH1 | c.1771A= (p.Asn591=) c.1588A= (p.Asn530=) n.1842A= c.*437A= (n.*437A=) c.*11A= (n.*11A=) c.1834A= (p.Asn612=) c.1036A= (p.Asn346=) c.223A= (p.Asn75=) c.-195A= (n.-195A=) |