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 |
|---|---|---|---|---|---|
| 4 | g.15984291_15984294del | CA2670097897 | PROM1 | c.2345_2348del (p.Phe782CysfsTer9) c.*2028_*2031del (n.*2028_*2031del) c.2318_2321del (p.Phe773CysfsTer9) c.13_16del c.96_99del c.2111_2114del (p.Phe704CysfsTer9) c.2252_2255del (p.Phe751CysfsTer9) c.2138_2141del (p.Phe713CysfsTer9) c.2072_2075del (p.Phe691CysfsTer9) | gnomAD v4 |
| 4 | g.15984290A>C | CA356426933 | PROM1 | c.2346T>G (p.Phe782Leu) c.*2029T>G (n.*2029T>G) c.2319T>G (p.Phe773Leu) c.14T>G c.97T>G c.2112T>G (p.Phe704Leu) c.2253T>G (p.Phe751Leu) c.2139T>G (p.Phe713Leu) c.2073T>G (p.Phe691Leu) | |
| 4 | g.15984290A>G | CA438381420 | PROM1 | c.2346T>C (p.Phe782=) c.*2029T>C (n.*2029T>C) c.2319T>C (p.Phe773=) c.14T>C c.97T>C c.2112T>C (p.Phe704=) c.2253T>C (p.Phe751=) c.2139T>C (p.Phe713=) c.2073T>C (p.Phe691=) | |
| 4 | g.15984290A>T | CA356426934 | PROM1 | c.2346T>A (p.Phe782Leu) c.*2029T>A (n.*2029T>A) c.2319T>A (p.Phe773Leu) c.14T>A c.97T>A c.2112T>A (p.Phe704Leu) c.2253T>A (p.Phe751Leu) c.2139T>A (p.Phe713Leu) c.2073T>A (p.Phe691Leu) | |
| 4 | g.15984291A>C | CA356426935 | PROM1 | c.2345T>G (p.Phe782Cys) c.*2028T>G (n.*2028T>G) c.2318T>G (p.Phe773Cys) c.13T>G c.96T>G c.2111T>G (p.Phe704Cys) c.2252T>G (p.Phe751Cys) c.2138T>G (p.Phe713Cys) c.2072T>G (p.Phe691Cys) | |
| 4 | g.15984291A>G | CA356426936 | PROM1 | c.2345T>C (p.Phe782Ser) c.*2028T>C (n.*2028T>C) c.2318T>C (p.Phe773Ser) c.13T>C c.96T>C c.2111T>C (p.Phe704Ser) c.2252T>C (p.Phe751Ser) c.2138T>C (p.Phe713Ser) c.2072T>C (p.Phe691Ser) | gnomAD v4 |
| 4 | g.15984291A>T | CA356426937 | PROM1 | c.2345T>A (p.Phe782Tyr) c.*2028T>A (n.*2028T>A) c.2318T>A (p.Phe773Tyr) c.13T>A c.96T>A c.2111T>A (p.Phe704Tyr) c.2252T>A (p.Phe751Tyr) c.2138T>A (p.Phe713Tyr) c.2072T>A (p.Phe691Tyr) | |
| 4 | g.15984292A>C | CA356426938 | PROM1 | c.2344T>G (p.Phe782Val) c.*2027T>G (n.*2027T>G) c.2317T>G (p.Phe773Val) c.12T>G c.95T>G c.2110T>G (p.Phe704Val) c.2251T>G (p.Phe751Val) c.2137T>G (p.Phe713Val) c.2071T>G (p.Phe691Val) | |
| 4 | g.15984292A>G | CA356426940 | PROM1 | c.2344T>C (p.Phe782Leu) c.*2027T>C (n.*2027T>C) c.2317T>C (p.Phe773Leu) c.12T>C c.95T>C c.2110T>C (p.Phe704Leu) c.2251T>C (p.Phe751Leu) c.2137T>C (p.Phe713Leu) c.2071T>C (p.Phe691Leu) | |
| 4 | g.15984292A>T | CA356426939 | PROM1 | c.2344T>A (p.Phe782Ile) c.*2027T>A (n.*2027T>A) c.2317T>A (p.Phe773Ile) c.12T>A c.95T>A c.2110T>A (p.Phe704Ile) c.2251T>A (p.Phe751Ile) c.2137T>A (p.Phe713Ile) c.2071T>A (p.Phe691Ile) | |
| 4 | g.15984293G>A | CA2866419 | PROM1 | c.2343C>T (p.Val781=) c.*2026C>T (n.*2026C>T) c.2316C>T (p.Val772=) c.11C>T c.94C>T c.2109C>T (p.Val703=) c.2250C>T (p.Val750=) c.2136C>T (p.Val712=) c.2070C>T (p.Val690=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15984293G>C | CA438381421 | PROM1 | c.2343C>G (p.Val781=) c.*2026C>G (n.*2026C>G) c.2316C>G (p.Val772=) c.11C>G c.94C>G c.2109C>G (p.Val703=) c.2250C>G (p.Val750=) c.2136C>G (p.Val712=) c.2070C>G (p.Val690=) | |
| 4 | g.15984293G= | CA1440892945 | PROM1 | c.2343C= (p.Val781=) c.*2026C= (n.*2026C=) c.2316C= (p.Val772=) c.11C= c.94C= c.2109C= (p.Val703=) c.2250C= (p.Val750=) c.2136C= (p.Val712=) c.2070C= (p.Val690=) | |
| 4 | g.15984293G>T | CA438381422 | PROM1 | c.2343C>A (p.Val781=) c.*2026C>A (n.*2026C>A) c.2316C>A (p.Val772=) c.11C>A c.94C>A c.2109C>A (p.Val703=) c.2250C>A (p.Val750=) c.2136C>A (p.Val712=) c.2070C>A (p.Val690=) | |
| 4 | g.15984294A>C | CA356426941 | PROM1 | c.2342T>G (p.Val781Gly) c.*2025T>G (n.*2025T>G) c.2315T>G (p.Val772Gly) c.10T>G c.93T>G c.2108T>G (p.Val703Gly) c.2249T>G (p.Val750Gly) c.2135T>G (p.Val712Gly) c.2069T>G (p.Val690Gly) | |
| 4 | g.15984294A>G | CA356426942 | PROM1 | c.2342T>C (p.Val781Ala) c.*2025T>C (n.*2025T>C) c.2315T>C (p.Val772Ala) c.10T>C c.93T>C c.2108T>C (p.Val703Ala) c.2249T>C (p.Val750Ala) c.2135T>C (p.Val712Ala) c.2069T>C (p.Val690Ala) | |
| 4 | g.15984294A>T | CA356426943 | PROM1 | c.2342T>A (p.Val781Asp) c.*2025T>A (n.*2025T>A) c.2315T>A (p.Val772Asp) c.10T>A c.93T>A c.2108T>A (p.Val703Asp) c.2249T>A (p.Val750Asp) c.2135T>A (p.Val712Asp) c.2069T>A (p.Val690Asp) | |
| 4 | g.15984295C>A | CA356426944 | PROM1 | c.2341G>T (p.Val781Phe) c.*2024G>T (n.*2024G>T) c.2314G>T (p.Val772Phe) c.9G>T c.92G>T c.2107G>T (p.Val703Phe) c.2248G>T (p.Val750Phe) c.2134G>T (p.Val712Phe) c.2068G>T (p.Val690Phe) | |
| 4 | g.15984295C>G | CA356426945 | PROM1 | c.2341G>C (p.Val781Leu) c.*2024G>C (n.*2024G>C) c.2314G>C (p.Val772Leu) c.9G>C c.92G>C c.2107G>C (p.Val703Leu) c.2248G>C (p.Val750Leu) c.2134G>C (p.Val712Leu) c.2068G>C (p.Val690Leu) | |
| 4 | g.15984295C>T | CA356426946 | PROM1 | c.2341G>A (p.Val781Ile) c.*2024G>A (n.*2024G>A) c.2314G>A (p.Val772Ile) c.9G>A c.92G>A c.2107G>A (p.Val703Ile) c.2248G>A (p.Val750Ile) c.2134G>A (p.Val712Ile) c.2068G>A (p.Val690Ile) | gnomAD v4 |
| 4 | g.15984296A= | CA1440892946 | PROM1 | c.2340T= (p.Asp780=) c.*2023T= (n.*2023T=) c.2313T= (p.Asp771=) c.8T= c.91T= c.2106T= (p.Asp702=) c.2247T= (p.Asp749=) c.2133T= (p.Asp711=) c.2067T= (p.Asp689=) | |
| 4 | g.15984296A>C | CA2866420 | PROM1 | c.2340T>G (p.Asp780Glu) c.*2023T>G (n.*2023T>G) c.2313T>G (p.Asp771Glu) c.8T>G c.91T>G c.2106T>G (p.Asp702Glu) c.2247T>G (p.Asp749Glu) c.2133T>G (p.Asp711Glu) c.2067T>G (p.Asp689Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15984296A>G | CA92574686 | PROM1 | c.2340T>C (p.Asp780=) c.*2023T>C (n.*2023T>C) c.2313T>C (p.Asp771=) c.8T>C c.91T>C c.2106T>C (p.Asp702=) c.2247T>C (p.Asp749=) c.2133T>C (p.Asp711=) c.2067T>C (p.Asp689=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.15984296A>T | CA356426947 | PROM1 | c.2340T>A (p.Asp780Glu) c.*2023T>A (n.*2023T>A) c.2313T>A (p.Asp771Glu) c.8T>A c.91T>A c.2106T>A (p.Asp702Glu) c.2247T>A (p.Asp749Glu) c.2133T>A (p.Asp711Glu) c.2067T>A (p.Asp689Glu) | |
| 4 | g.15984297T>A | CA2866421 | PROM1 | c.2339A>T (p.Asp780Val) c.*2022A>T (n.*2022A>T) c.2312A>T (p.Asp771Val) c.7A>T c.90A>T c.2105A>T (p.Asp702Val) c.2246A>T (p.Asp749Val) c.2132A>T (p.Asp711Val) c.2066A>T (p.Asp689Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.15984297T>C | CA356426949 | PROM1 | c.2339A>G (p.Asp780Gly) c.*2022A>G (n.*2022A>G) c.2312A>G (p.Asp771Gly) c.7A>G c.90A>G c.2105A>G (p.Asp702Gly) c.2246A>G (p.Asp749Gly) c.2132A>G (p.Asp711Gly) c.2066A>G (p.Asp689Gly) | |
| 4 | g.15984297T>G | CA356426948 | PROM1 | c.2339A>C (p.Asp780Ala) c.*2022A>C (n.*2022A>C) c.2312A>C (p.Asp771Ala) c.7A>C c.90A>C c.2105A>C (p.Asp702Ala) c.2246A>C (p.Asp749Ala) c.2132A>C (p.Asp711Ala) c.2066A>C (p.Asp689Ala) | |
| 4 | g.15984297T= | CA1440892947 | PROM1 | c.2339A= (p.Asp780=) c.*2022A= (n.*2022A=) c.2312A= (p.Asp771=) c.7A= c.90A= c.2105A= (p.Asp702=) c.2246A= (p.Asp749=) c.2132A= (p.Asp711=) c.2066A= (p.Asp689=) | |
| 4 | g.15984298C>A | CA356426953 | PROM1 | c.2338G>T (p.Asp780Tyr) c.*2021G>T (n.*2021G>T) c.2311G>T (p.Asp771Tyr) c.6G>T c.89G>T c.2104G>T (p.Asp702Tyr) c.2245G>T (p.Asp749Tyr) c.2131G>T (p.Asp711Tyr) c.2065G>T (p.Asp689Tyr) | |
| 4 | g.15984298C>G | CA356426954 | PROM1 | c.2338G>C (p.Asp780His) c.*2021G>C (n.*2021G>C) c.2311G>C (p.Asp771His) c.6G>C c.89G>C c.2104G>C (p.Asp702His) c.2245G>C (p.Asp749His) c.2131G>C (p.Asp711His) c.2065G>C (p.Asp689His) | |
| 4 | g.15984298C>T | CA356426956 | PROM1 | c.2338G>A (p.Asp780Asn) c.*2021G>A (n.*2021G>A) c.2311G>A (p.Asp771Asn) c.6G>A c.89G>A c.2104G>A (p.Asp702Asn) c.2245G>A (p.Asp749Asn) c.2131G>A (p.Asp711Asn) c.2065G>A (p.Asp689Asn) | |
| 4 | g.15984299A>C | CA438381426 | PROM1 | c.2337T>G (p.Val779=) c.*2020T>G (n.*2020T>G) c.2310T>G (p.Val770=) c.5T>G c.88T>G c.2103T>G (p.Val701=) c.2244T>G (p.Val748=) c.2130T>G (p.Val710=) c.2064T>G (p.Val688=) | |
| 4 | g.15984299A>G | CA438381428 | PROM1 | c.2337T>C (p.Val779=) c.*2020T>C (n.*2020T>C) c.2310T>C (p.Val770=) c.5T>C c.88T>C c.2103T>C (p.Val701=) c.2244T>C (p.Val748=) c.2130T>C (p.Val710=) c.2064T>C (p.Val688=) | |
| 4 | g.15984299A>T | CA438381430 | PROM1 | c.2337T>A (p.Val779=) c.*2020T>A (n.*2020T>A) c.2310T>A (p.Val770=) c.5T>A c.88T>A c.2103T>A (p.Val701=) c.2244T>A (p.Val748=) c.2130T>A (p.Val710=) c.2064T>A (p.Val688=) | |
| 4 | g.15984300A>C | CA356426958 | PROM1 | c.2336T>G (p.Val779Gly) c.*2019T>G (n.*2019T>G) c.2309T>G (p.Val770Gly) c.4T>G c.87T>G c.2102T>G (p.Val701Gly) c.2243T>G (p.Val748Gly) c.2129T>G (p.Val710Gly) c.2063T>G (p.Val688Gly) | |
| 4 | g.15984300A>G | CA356426961 | PROM1 | c.2336T>C (p.Val779Ala) c.*2019T>C (n.*2019T>C) c.2309T>C (p.Val770Ala) c.4T>C c.87T>C c.2102T>C (p.Val701Ala) c.2243T>C (p.Val748Ala) c.2129T>C (p.Val710Ala) c.2063T>C (p.Val688Ala) | |
| 4 | g.15984300A>T | CA356426963 | PROM1 | c.2336T>A (p.Val779Asp) c.*2019T>A (n.*2019T>A) c.2309T>A (p.Val770Asp) c.4T>A c.87T>A c.2102T>A (p.Val701Asp) c.2243T>A (p.Val748Asp) c.2129T>A (p.Val710Asp) c.2063T>A (p.Val688Asp) | |
| 4 | g.15984301C>A | CA356426965 | PROM1 | c.2335G>T (p.Val779Phe) c.*2018G>T (n.*2018G>T) c.2308G>T (p.Val770Phe) c.3G>T c.86G>T c.2101G>T (p.Val701Phe) c.2242G>T (p.Val748Phe) c.2128G>T (p.Val710Phe) c.2062G>T (p.Val688Phe) | |
| 4 | g.15984301C= | CA1440892948 | PROM1 | c.2335G= (p.Val779=) c.*2018G= (n.*2018G=) c.2308G= (p.Val770=) c.3G= c.86G= c.2101G= (p.Val701=) c.2242G= (p.Val748=) c.2128G= (p.Val710=) c.2062G= (p.Val688=) | |
| 4 | g.15984301C>G | CA2866422 | PROM1 | c.2335G>C (p.Val779Leu) c.*2018G>C (n.*2018G>C) c.2308G>C (p.Val770Leu) c.3G>C c.86G>C c.2101G>C (p.Val701Leu) c.2242G>C (p.Val748Leu) c.2128G>C (p.Val710Leu) c.2062G>C (p.Val688Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.15984301C>T | CA356426967 | PROM1 | c.2335G>A (p.Val779Ile) c.*2018G>A (n.*2018G>A) c.2308G>A (p.Val770Ile) c.3G>A c.86G>A c.2101G>A (p.Val701Ile) c.2242G>A (p.Val748Ile) c.2128G>A (p.Val710Ile) c.2062G>A (p.Val688Ile) | ClinVar dbSNP gnomAD v4 |
| 4 | g.15984302A>C | CA438381431 | PROM1 | c.2334T>G (p.Ala778=) c.*2017T>G (n.*2017T>G) c.2307T>G (p.Ala769=) c.2T>G c.85T>G c.2100T>G (p.Ala700=) c.2241T>G (p.Ala747=) c.2127T>G (p.Ala709=) c.2061T>G (p.Ala687=) | |
| 4 | g.15984302A>G | CA438381432 | PROM1 | c.2334T>C (p.Ala778=) c.*2017T>C (n.*2017T>C) c.2307T>C (p.Ala769=) c.2T>C c.85T>C c.2100T>C (p.Ala700=) c.2241T>C (p.Ala747=) c.2127T>C (p.Ala709=) c.2061T>C (p.Ala687=) | gnomAD v4 |
| 4 | g.15984302A>T | CA438381433 | PROM1 | c.2334T>A (p.Ala778=) c.*2017T>A (n.*2017T>A) c.2307T>A (p.Ala769=) c.2T>A c.85T>A c.2100T>A (p.Ala700=) c.2241T>A (p.Ala747=) c.2127T>A (p.Ala709=) c.2061T>A (p.Ala687=) | |
| 4 | g.15984303G>A | CA356426968 | PROM1 | c.2333C>T (p.Ala778Val) c.*2016C>T (n.*2016C>T) c.2306C>T (p.Ala769Val) c.1C>T c.84C>T c.2099C>T (p.Ala700Val) c.2240C>T (p.Ala747Val) c.2126C>T (p.Ala709Val) c.2060C>T (p.Ala687Val) | |
| 4 | g.15984303G>C | CA356426969 | PROM1 | c.2333C>G (p.Ala778Gly) c.*2016C>G (n.*2016C>G) c.2306C>G (p.Ala769Gly) c.1C>G c.84C>G c.2099C>G (p.Ala700Gly) c.2240C>G (p.Ala747Gly) c.2126C>G (p.Ala709Gly) c.2060C>G (p.Ala687Gly) | |
| 4 | g.15984303G>T | CA356426971 | PROM1 | c.2333C>A (p.Ala778Asp) c.*2016C>A (n.*2016C>A) c.2306C>A (p.Ala769Asp) c.1C>A c.84C>A c.2099C>A (p.Ala700Asp) c.2240C>A (p.Ala747Asp) c.2126C>A (p.Ala709Asp) c.2060C>A (p.Ala687Asp) | |
| 4 | g.15984304C>A | CA356426979 | PROM1 | c.2332G>T (p.Ala778Ser) c.*2015G>T (n.*2015G>T) c.2305G>T (p.Ala769Ser) c.83G>T c.2098G>T (p.Ala700Ser) c.2239G>T (p.Ala747Ser) c.2125G>T (p.Ala709Ser) c.2059G>T (p.Ala687Ser) | |
| 4 | g.15984304C= | CA1440892949 | PROM1 | c.2332G= (p.Ala778=) c.*2015G= (n.*2015G=) c.2305G= (p.Ala769=) c.83G= c.2098G= (p.Ala700=) c.2239G= (p.Ala747=) c.2125G= (p.Ala709=) c.2059G= (p.Ala687=) | |
| 4 | g.15984304C>G | CA356426973 | PROM1 | c.2332G>C (p.Ala778Pro) c.*2015G>C (n.*2015G>C) c.2305G>C (p.Ala769Pro) c.83G>C c.2098G>C (p.Ala700Pro) c.2239G>C (p.Ala747Pro) c.2125G>C (p.Ala709Pro) c.2059G>C (p.Ala687Pro) |