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.156880011_156880038del | CA2739275328 | NTRK1 | c.1879_1906del (p.Thr627ProfsTer?) c.*651_*678del (n.*651_*678del) c.2059_2086del (p.Thr687ProfsTer?) c.27_54del c.2050_2077del (p.Thr684ProfsTer?) c.2041_2068del (p.Thr681ProfsTer?) c.1951_1978del (p.Thr651ProfsTer?) n.2512_2539del n.11_38del | ClinVar |
| 1 | g.156880025T>A | CA421140445 | NTRK1 | c.1893T>A (p.Ile631=) c.*665T>A (n.*665T>A) c.2073T>A (p.Ile691=) c.41T>A c.2064T>A (p.Ile688=) c.2055T>A (p.Ile685=) c.1965T>A (p.Ile655=) n.2526T>A n.25T>A | |
| 1 | g.156880025T>C | CA421140446 | NTRK1 | c.1893T>C (p.Ile631=) c.*665T>C (n.*665T>C) c.2073T>C (p.Ile691=) c.41T>C c.2064T>C (p.Ile688=) c.2055T>C (p.Ile685=) c.1965T>C (p.Ile655=) n.2526T>C n.25T>C | |
| 1 | g.156880025T>G | CA342940271 | NTRK1 | c.1893T>G (p.Ile631Met) c.*665T>G (n.*665T>G) c.2073T>G (p.Ile691Met) c.41T>G c.2064T>G (p.Ile688Met) c.2055T>G (p.Ile685Met) c.1965T>G (p.Ile655Met) n.2526T>G n.25T>G | |
| 1 | g.156880026C>A | CA342940273 | NTRK1 | c.1894C>A (p.Arg632Ser) c.*666C>A (n.*666C>A) c.2074C>A (p.Arg692Ser) c.42C>A c.2065C>A (p.Arg689Ser) c.2056C>A (p.Arg686Ser) c.1966C>A (p.Arg656Ser) n.2527C>A n.26C>A | gnomAD v4 |
| 1 | g.156880026C= | CA1200784386 | NTRK1 | c.1894C= (p.Arg632=) c.*666C= (n.*666C=) c.2074C= (p.Arg692=) c.42C= c.2065C= (p.Arg689=) c.2056C= (p.Arg686=) c.1966C= (p.Arg656=) n.2527C= n.26C= | |
| 1 | g.156880026C>G | CA342940272 | NTRK1 | c.1894C>G (p.Arg632Gly) c.*666C>G (n.*666C>G) c.2074C>G (p.Arg692Gly) c.42C>G c.2065C>G (p.Arg689Gly) c.2056C>G (p.Arg686Gly) c.1966C>G (p.Arg656Gly) n.2527C>G n.26C>G | dbSNP gnomAD v4 |
| 1 | g.156880026C>T | CA1169561 | NTRK1 | c.1894C>T (p.Arg632Cys) c.*666C>T (n.*666C>T) c.2074C>T (p.Arg692Cys) c.42C>T c.2065C>T (p.Arg689Cys) c.2056C>T (p.Arg686Cys) c.1966C>T (p.Arg656Cys) n.2527C>T n.26C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.156880027G>A | CA1169562 | NTRK1 | c.1895G>A (p.Arg632His) c.*667G>A (n.*667G>A) c.2075G>A (p.Arg692His) c.43G>A c.2066G>A (p.Arg689His) c.2057G>A (p.Arg686His) c.1967G>A (p.Arg656His) n.2528G>A n.27G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.156880027G>C | CA342940274 | NTRK1 | c.1895G>C (p.Arg632Pro) c.*667G>C (n.*667G>C) c.2075G>C (p.Arg692Pro) c.43G>C c.2066G>C (p.Arg689Pro) c.2057G>C (p.Arg686Pro) c.1967G>C (p.Arg656Pro) n.2528G>C n.27G>C | dbSNP gnomAD v4 |
| 1 | g.156880027G= | CA1200784390 | NTRK1 | c.1895G= (p.Arg632=) c.*667G= (n.*667G=) c.2075G= (p.Arg692=) c.43G= c.2066G= (p.Arg689=) c.2057G= (p.Arg686=) c.1967G= (p.Arg656=) n.2528G= n.27G= | |
| 1 | g.156880027G>T | CA342940276 | NTRK1 | c.1895G>T (p.Arg632Leu) c.*667G>T (n.*667G>T) c.2075G>T (p.Arg692Leu) c.43G>T c.2066G>T (p.Arg689Leu) c.2057G>T (p.Arg686Leu) c.1967G>T (p.Arg656Leu) n.2528G>T n.27G>T | dbSNP gnomAD v4 |
| 1 | g.156880028C>A | CA421140447 | NTRK1 | c.1896C>A (p.Arg632=) c.*668C>A (n.*668C>A) c.2076C>A (p.Arg692=) c.44C>A c.2067C>A (p.Arg689=) c.2058C>A (p.Arg686=) c.1968C>A (p.Arg656=) n.2529C>A n.28C>A | |
| 1 | g.156880028C>G | CA421140448 | NTRK1 | c.1896C>G (p.Arg632=) c.*668C>G (n.*668C>G) c.2076C>G (p.Arg692=) c.44C>G c.2067C>G (p.Arg689=) c.2058C>G (p.Arg686=) c.1968C>G (p.Arg656=) n.2529C>G n.28C>G | dbSNP |
| 1 | g.156880028C>T | CA421140449 | NTRK1 | c.1896C>T (p.Arg632=) c.*668C>T (n.*668C>T) c.2076C>T (p.Arg692=) c.44C>T c.2067C>T (p.Arg689=) c.2058C>T (p.Arg686=) c.1968C>T (p.Arg656=) n.2529C>T n.28C>T | ClinVar dbSNP |
| 1 | g.156880029T>A | CA342940277 | NTRK1 | c.1897T>A (p.Trp633Arg) c.*669T>A (n.*669T>A) c.2077T>A (p.Trp693Arg) c.45T>A c.2068T>A (p.Trp690Arg) c.2059T>A (p.Trp687Arg) c.1969T>A (p.Trp657Arg) n.2530T>A n.29T>A | |
| 1 | g.156880029T>C | CA342940279 | NTRK1 | c.1897T>C (p.Trp633Arg) c.*669T>C (n.*669T>C) c.2077T>C (p.Trp693Arg) c.45T>C c.2068T>C (p.Trp690Arg) c.2059T>C (p.Trp687Arg) c.1969T>C (p.Trp657Arg) n.2530T>C n.29T>C | |
| 1 | g.156880029T>G | CA342940280 | NTRK1 | c.1897T>G (p.Trp633Gly) c.*669T>G (n.*669T>G) c.2077T>G (p.Trp693Gly) c.45T>G c.2068T>G (p.Trp690Gly) c.2059T>G (p.Trp687Gly) c.1969T>G (p.Trp657Gly) n.2530T>G n.29T>G | |
| 1 | g.156880030G>A | CA342940282 | NTRK1 | c.1898G>A (p.Trp633Ter) c.*670G>A (n.*670G>A) c.2078G>A (p.Trp693Ter) c.46G>A c.2069G>A (p.Trp690Ter) c.2060G>A (p.Trp687Ter) c.1970G>A (p.Trp657Ter) n.2531G>A n.30G>A | ClinVar dbSNP |
| 1 | g.156880030G>C | CA342940283 | NTRK1 | c.1898G>C (p.Trp633Ser) c.*670G>C (n.*670G>C) c.2078G>C (p.Trp693Ser) c.46G>C c.2069G>C (p.Trp690Ser) c.2060G>C (p.Trp687Ser) c.1970G>C (p.Trp657Ser) n.2531G>C n.30G>C | dbSNP |
| 1 | g.156880030G= | CA1200784392 | NTRK1 | c.1898G= (p.Trp633=) c.*670G= (n.*670G=) c.2078G= (p.Trp693=) c.46G= c.2069G= (p.Trp690=) c.2060G= (p.Trp687=) c.1970G= (p.Trp657=) n.2531G= n.30G= | |
| 1 | g.156880030G>T | CA342940285 | NTRK1 | c.1898G>T (p.Trp633Leu) c.*670G>T (n.*670G>T) c.2078G>T (p.Trp693Leu) c.46G>T c.2069G>T (p.Trp690Leu) c.2060G>T (p.Trp687Leu) c.1970G>T (p.Trp657Leu) n.2531G>T n.30G>T | |
| 1 | g.156880031G>A | CA342940286 | NTRK1 | c.1899G>A (p.Trp633Ter) c.*671G>A (n.*671G>A) c.2079G>A (p.Trp693Ter) c.47G>A c.2070G>A (p.Trp690Ter) c.2061G>A (p.Trp687Ter) c.1971G>A (p.Trp657Ter) n.2532G>A n.31G>A | dbSNP COSMIC COSMIC |
| 1 | g.156880031G>C | CA342940287 | NTRK1 | c.1899G>C (p.Trp633Cys) c.*671G>C (n.*671G>C) c.2079G>C (p.Trp693Cys) c.47G>C c.2070G>C (p.Trp690Cys) c.2061G>C (p.Trp687Cys) c.1971G>C (p.Trp657Cys) n.2532G>C n.31G>C | dbSNP |
| 1 | g.156880031G>T | CA342940288 | NTRK1 | c.1899G>T (p.Trp633Cys) c.*671G>T (n.*671G>T) c.2079G>T (p.Trp693Cys) c.47G>T c.2070G>T (p.Trp690Cys) c.2061G>T (p.Trp687Cys) c.1971G>T (p.Trp657Cys) n.2532G>T n.31G>T | |
| 1 | g.156880032A>C | CA342940291 | NTRK1 | c.1900A>C (p.Met634Leu) c.*672A>C (n.*672A>C) c.2080A>C (p.Met694Leu) c.48A>C c.2071A>C (p.Met691Leu) c.2062A>C (p.Met688Leu) c.1972A>C (p.Met658Leu) n.2533A>C n.32A>C | dbSNP |
| 1 | g.156880032A>G | CA342940290 | NTRK1 | c.1900A>G (p.Met634Val) c.*672A>G (n.*672A>G) c.2080A>G (p.Met694Val) c.48A>G c.2071A>G (p.Met691Val) c.2062A>G (p.Met688Val) c.1972A>G (p.Met658Val) n.2533A>G n.32A>G | |
| 1 | g.156880032A>T | CA342940289 | NTRK1 | c.1900A>T (p.Met634Leu) c.*672A>T (n.*672A>T) c.2080A>T (p.Met694Leu) c.48A>T c.2071A>T (p.Met691Leu) c.2062A>T (p.Met688Leu) c.1972A>T (p.Met658Leu) n.2533A>T n.32A>T | dbSNP |
| 1 | g.156880033T>A | CA342940293 | NTRK1 | c.1901T>A (p.Met634Lys) c.*673T>A (n.*673T>A) c.2081T>A (p.Met694Lys) c.49T>A c.2072T>A (p.Met691Lys) c.2063T>A (p.Met688Lys) c.1973T>A (p.Met658Lys) n.2534T>A n.33T>A | dbSNP |
| 1 | g.156880033T>C | CA342940296 | NTRK1 | c.1901T>C (p.Met634Thr) c.*673T>C (n.*673T>C) c.2081T>C (p.Met694Thr) c.49T>C c.2072T>C (p.Met691Thr) c.2063T>C (p.Met688Thr) c.1973T>C (p.Met658Thr) n.2534T>C n.33T>C | dbSNP |
| 1 | g.156880033T>G | CA342940295 | NTRK1 | c.1901T>G (p.Met634Arg) c.*673T>G (n.*673T>G) c.2081T>G (p.Met694Arg) c.49T>G c.2072T>G (p.Met691Arg) c.2063T>G (p.Met688Arg) c.1973T>G (p.Met658Arg) n.2534T>G n.33T>G | dbSNP |
| 1 | g.156880034G>A | CA342940298 | NTRK1 | c.1902G>A (p.Met634Ile) c.*674G>A (n.*674G>A) c.2082G>A (p.Met694Ile) c.50G>A c.2073G>A (p.Met691Ile) c.2064G>A (p.Met688Ile) c.1974G>A (p.Met658Ile) n.2535G>A n.34G>A | dbSNP |
| 1 | g.156880034G>C | CA342940299 | NTRK1 | c.1902G>C (p.Met634Ile) c.*674G>C (n.*674G>C) c.2082G>C (p.Met694Ile) c.50G>C c.2073G>C (p.Met691Ile) c.2064G>C (p.Met688Ile) c.1974G>C (p.Met658Ile) n.2535G>C n.34G>C | dbSNP |
| 1 | g.156880034G>T | CA342940301 | NTRK1 | c.1902G>T (p.Met634Ile) c.*674G>T (n.*674G>T) c.2082G>T (p.Met694Ile) c.50G>T c.2073G>T (p.Met691Ile) c.2064G>T (p.Met688Ile) c.1974G>T (p.Met658Ile) n.2535G>T n.34G>T | |
| 1 | g.156880035C>A | CA342940302 | NTRK1 | c.1903C>A (p.Pro635Thr) c.*675C>A (n.*675C>A) c.2083C>A (p.Pro695Thr) c.51C>A c.2074C>A (p.Pro692Thr) c.2065C>A (p.Pro689Thr) c.1975C>A (p.Pro659Thr) n.2536C>A n.35C>A | dbSNP |
| 1 | g.156880035C= | CA1200784395 | NTRK1 | c.1903C= (p.Pro635=) c.*675C= (n.*675C=) c.2083C= (p.Pro695=) c.51C= c.2074C= (p.Pro692=) c.2065C= (p.Pro689=) c.1975C= (p.Pro659=) n.2536C= n.35C= | |
| 1 | g.156880035C>G | CA342940304 | NTRK1 | c.1903C>G (p.Pro635Ala) c.*675C>G (n.*675C>G) c.2083C>G (p.Pro695Ala) c.51C>G c.2074C>G (p.Pro692Ala) c.2065C>G (p.Pro689Ala) c.1975C>G (p.Pro659Ala) n.2536C>G n.35C>G | dbSNP |
| 1 | g.156880035C>T | CA31124448 | NTRK1 | c.1903C>T (p.Pro635Ser) c.*675C>T (n.*675C>T) c.2083C>T (p.Pro695Ser) c.51C>T c.2074C>T (p.Pro692Ser) c.2065C>T (p.Pro689Ser) c.1975C>T (p.Pro659Ser) n.2536C>T n.35C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.156880036C>A | CA342940307 | NTRK1 | c.1904C>A (p.Pro635Gln) c.*676C>A (n.*676C>A) c.2084C>A (p.Pro695Gln) c.52C>A c.2075C>A (p.Pro692Gln) c.2066C>A (p.Pro689Gln) c.1976C>A (p.Pro659Gln) n.2537C>A n.36C>A | dbSNP |
| 1 | g.156880036C= | CA1141581096 | NTRK1 | c.1904C= (p.Pro635=) c.*676C= (n.*676C=) c.2084C= (p.Pro695=) c.52C= c.2075C= (p.Pro692=) c.2066C= (p.Pro689=) c.1976C= (p.Pro659=) n.2537C= n.36C= | |
| 1 | g.156880036C>G | CA342940308 | NTRK1 | c.1904C>G (p.Pro635Arg) c.*676C>G (n.*676C>G) c.2084C>G (p.Pro695Arg) c.52C>G c.2075C>G (p.Pro692Arg) c.2066C>G (p.Pro689Arg) c.1976C>G (p.Pro659Arg) n.2537C>G n.36C>G | dbSNP |
| 1 | g.156880036C>T | CA256288 | NTRK1 | c.1904C>T (p.Pro635Leu) c.*676C>T (n.*676C>T) c.2084C>T (p.Pro695Leu) c.52C>T c.2075C>T (p.Pro692Leu) c.2066C>T (p.Pro689Leu) c.1976C>T (p.Pro659Leu) n.2537C>T n.36C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.156880037G>A | CA1169563 | NTRK1 | c.1905G>A (p.Pro635=) c.*677G>A (n.*677G>A) c.2085G>A (p.Pro695=) c.53G>A c.2076G>A (p.Pro692=) c.2067G>A (p.Pro689=) c.1977G>A (p.Pro659=) n.2538G>A n.37G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156880037G>C | CA421140450 | NTRK1 | c.1905G>C (p.Pro635=) c.*677G>C (n.*677G>C) c.2085G>C (p.Pro695=) c.53G>C c.2076G>C (p.Pro692=) c.2067G>C (p.Pro689=) c.1977G>C (p.Pro659=) n.2538G>C n.37G>C | dbSNP |
| 1 | g.156880037G= | CA1144211999 | NTRK1 | c.1905G= (p.Pro635=) c.*677G= (n.*677G=) c.2085G= (p.Pro695=) c.53G= c.2076G= (p.Pro692=) c.2067G= (p.Pro689=) c.1977G= (p.Pro659=) n.2538G= n.37G= | |
| 1 | g.156880037G>T | CA421140451 | NTRK1 | c.1905G>T (p.Pro635=) c.*677G>T (n.*677G>T) c.2085G>T (p.Pro695=) c.53G>T c.2076G>T (p.Pro692=) c.2067G>T (p.Pro689=) c.1977G>T (p.Pro659=) n.2538G>T n.37G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.156880037_156880064delinsGCCCGAGAGCATCCTGTACCGTAAGTTC | CA1200784410 | NTRK1 | c.1905_1932delinsGCCCGAGAGCATCCTGTACCGTAAGTTC (p.Pro635=) c.*677_*704delinsGCCCGAGAGCATCCTGTACCGTAAGTTC (n.*677_*704delinsGCCCGAGAGCATCCTGTACCGTAAGTTC) c.2085_2112delinsGCCCGAGAGCATCCTGTACCGTAAGTTC (p.Pro695=) c.53_80delinsGCCCGAGAGCATCCTGTACCGTAAGTTC c.2076_2103delinsGCCCGAGAGCATCCTGTACCGTAAGTTC (p.Pro692=) c.2067_2094delinsGCCCGAGAGCATCCTGTACCGTAAGTTC (p.Pro689=) c.1977_2004delinsGCCCGAGAGCATCCTGTACCGTAAGTTC (p.Pro659=) n.2538_2565delinsGCCCGAGAGCATCCTGTACCGTAAGTTC n.37_64delinsGCCCGAGAGCATCCTGTACCGTAAGTTC | |
| 1 | g.156880038C>A | CA342940315 | NTRK1 | c.1906C>A (p.Pro636Thr) c.*678C>A (n.*678C>A) c.2086C>A (p.Pro696Thr) c.54C>A c.2077C>A (p.Pro693Thr) c.2068C>A (p.Pro690Thr) c.1978C>A (p.Pro660Thr) n.2539C>A n.38C>A | dbSNP |
| 1 | g.156880038C>G | CA342940314 | NTRK1 | c.1906C>G (p.Pro636Ala) c.*678C>G (n.*678C>G) c.2086C>G (p.Pro696Ala) c.54C>G c.2077C>G (p.Pro693Ala) c.2068C>G (p.Pro690Ala) c.1978C>G (p.Pro660Ala) n.2539C>G n.38C>G | dbSNP |
| 1 | g.156880038C>T | CA342940312 | NTRK1 | c.1906C>T (p.Pro636Ser) c.*678C>T (n.*678C>T) c.2086C>T (p.Pro696Ser) c.54C>T c.2077C>T (p.Pro693Ser) c.2068C>T (p.Pro690Ser) c.1978C>T (p.Pro660Ser) n.2539C>T n.38C>T | dbSNP |