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 |
|---|---|---|---|---|---|
| 11 | g.108272559_108272560dup | CA916079947 | ATM | c.3105_3106dup (p.Phe1036TyrfsTer4) c.*2576_*2577dup (n.*2576_*2577dup) n.3255_3256dup c.2940_2941dup (p.Phe981TyrfsTer4) c.2061_2062dup (p.Phe688TyrfsTer4) c.1797_1798dup (p.Phe600TyrfsTer4) n.3838_3839dup | ClinVar dbSNP |
| 11 | g.108272559_108272560del | CA2580616432 | ATM | c.3105_3106del (p.Phe1036LeufsTer11) c.*2576_*2577del (n.*2576_*2577del) n.3255_3256del c.2940_2941del (p.Phe981LeufsTer11) c.2061_2062del (p.Phe688LeufsTer11) c.1797_1798del (p.Phe600LeufsTer11) n.3838_3839del | ClinVar dbSNP |
| 11 | g.108272554_108272568dup | CA2573146628 | ATM | c.3100_3114dup (p.Val1038_Arg1039insTyrIlePheSerVal) c.*2571_*2585dup (n.*2571_*2585dup) n.3250_3264dup c.2935_2949dup (p.Val983_Arg984insTyrIlePheSerVal) c.2056_2070dup (p.Val690_Arg691insTyrIlePheSerVal) c.1792_1806dup (p.Val602_Arg603insTyrIlePheSerVal) n.3833_3847dup | ClinVar dbSNP |
| 11 | g.108272555A>C | CA382515105 | ATM | c.3101A>C (p.Tyr1034Ser) c.*2572A>C (n.*2572A>C) n.3251A>C c.2936A>C (p.Tyr979Ser) c.2057A>C (p.Tyr686Ser) c.1793A>C (p.Tyr598Ser) n.3834A>C | |
| 11 | g.108272555A>G | CA382515107 | ATM | c.3101A>G (p.Tyr1034Cys) c.*2572A>G (n.*2572A>G) n.3251A>G c.2936A>G (p.Tyr979Cys) c.2057A>G (p.Tyr686Cys) c.1793A>G (p.Tyr598Cys) n.3834A>G | ClinVar |
| 11 | g.108272555A>T | CA382515109 | ATM | c.3101A>T (p.Tyr1034Phe) c.*2572A>T (n.*2572A>T) n.3251A>T c.2936A>T (p.Tyr979Phe) c.2057A>T (p.Tyr686Phe) c.1793A>T (p.Tyr598Phe) n.3834A>T | dbSNP |
| 11 | g.108272555dup | CA645579296 | ATM | c.3101dup (p.Tyr1034Ter) c.*2572dup (n.*2572dup) n.3251dup c.2936dup (p.Tyr979Ter) c.2057dup (p.Tyr686Ter) c.1793dup (p.Tyr598Ter) n.3834dup | COSMIC |
| 11 | g.108272556T>A | CA382515114 | ATM | c.3102T>A (p.Tyr1034Ter) c.*2573T>A (n.*2573T>A) n.3252T>A c.2937T>A (p.Tyr979Ter) c.2058T>A (p.Tyr686Ter) c.1794T>A (p.Tyr598Ter) n.3835T>A | dbSNP |
| 11 | g.108272556T>C | CA6265195 | ATM | c.3102T>C (p.Tyr1034=) c.*2573T>C (n.*2573T>C) n.3252T>C c.2937T>C (p.Tyr979=) c.2058T>C (p.Tyr686=) c.1794T>C (p.Tyr598=) n.3835T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272556T>G | CA382515111 | ATM | c.3102T>G (p.Tyr1034Ter) c.*2573T>G (n.*2573T>G) n.3252T>G c.2937T>G (p.Tyr979Ter) c.2058T>G (p.Tyr686Ter) c.1794T>G (p.Tyr598Ter) n.3835T>G | ClinVar dbSNP |
| 11 | g.108272556T= | CA1998776610 | ATM | c.3102T= (p.Tyr1034=) c.*2573T= (n.*2573T=) n.3252T= c.2937T= (p.Tyr979=) c.2058T= (p.Tyr686=) c.1794T= (p.Tyr598=) n.3835T= | |
| 11 | g.108272557A>C | CA382515118 | ATM | c.3103A>C (p.Ile1035Leu) c.*2574A>C (n.*2574A>C) n.3253A>C c.2938A>C (p.Ile980Leu) c.2059A>C (p.Ile687Leu) c.1795A>C (p.Ile599Leu) n.3836A>C | |
| 11 | g.108272557A>G | CA382515120 | ATM | c.3103A>G (p.Ile1035Val) c.*2574A>G (n.*2574A>G) n.3253A>G c.2938A>G (p.Ile980Val) c.2059A>G (p.Ile687Val) c.1795A>G (p.Ile599Val) n.3836A>G | |
| 11 | g.108272557A>T | CA382515122 | ATM | c.3103A>T (p.Ile1035Leu) c.*2574A>T (n.*2574A>T) n.3253A>T c.2938A>T (p.Ile980Leu) c.2059A>T (p.Ile687Leu) c.1795A>T (p.Ile599Leu) n.3836A>T | dbSNP |
| 11 | g.108272558T>A | CA382515126 | ATM | c.3104T>A (p.Ile1035Lys) c.*2575T>A (n.*2575T>A) n.3254T>A c.2939T>A (p.Ile980Lys) c.2060T>A (p.Ile687Lys) c.1796T>A (p.Ile599Lys) n.3837T>A | dbSNP |
| 11 | g.108272558T>C | CA382515128 | ATM | c.3104T>C (p.Ile1035Thr) c.*2575T>C (n.*2575T>C) n.3254T>C c.2939T>C (p.Ile980Thr) c.2060T>C (p.Ile687Thr) c.1796T>C (p.Ile599Thr) n.3837T>C | ClinVar dbSNP |
| 11 | g.108272558T>G | CA382515130 | ATM | c.3104T>G (p.Ile1035Arg) c.*2575T>G (n.*2575T>G) n.3254T>G c.2939T>G (p.Ile980Arg) c.2060T>G (p.Ile687Arg) c.1796T>G (p.Ile599Arg) n.3837T>G | |
| 11 | g.108272558_108272561del | CA2695215252 | ATM | c.3104_3107del (p.Ile1035ThrfsTer3) c.*2575_*2578del (n.*2575_*2578del) n.3254_3257del c.2939_2942del (p.Ile980ThrfsTer3) c.2060_2063del (p.Ile687ThrfsTer3) c.1796_1799del (p.Ile599ThrfsTer3) n.3837_3840del | |
| 11 | g.108272559A= | CA1998776616 | ATM | c.3105A= (p.Ile1035=) c.*2576A= (n.*2576A=) n.3255A= c.2940A= (p.Ile980=) c.2061A= (p.Ile687=) c.1797A= (p.Ile599=) n.3838A= | |
| 11 | g.108272559A>C | CA476744763 | ATM | c.3105A>C (p.Ile1035=) c.*2576A>C (n.*2576A>C) n.3255A>C c.2940A>C (p.Ile980=) c.2061A>C (p.Ile687=) c.1797A>C (p.Ile599=) n.3838A>C | |
| 11 | g.108272559A>G | CA382515133 | ATM | c.3105A>G (p.Ile1035Met) c.*2576A>G (n.*2576A>G) n.3255A>G c.2940A>G (p.Ile980Met) c.2061A>G (p.Ile687Met) c.1797A>G (p.Ile599Met) n.3838A>G | ClinVar dbSNP |
| 11 | g.108272559A>T | CA476744764 | ATM | c.3105A>T (p.Ile1035=) c.*2576A>T (n.*2576A>T) n.3255A>T c.2940A>T (p.Ile980=) c.2061A>T (p.Ile687=) c.1797A>T (p.Ile599=) n.3838A>T | dbSNP |
| 11 | g.108272564_108272750del | CA2695215253 | ATM | c.3110_3182del c.*2581_*2653del n.3260_3332del c.2945_3017del c.2066_2138del c.1802_1874del n.3843_3915del | |
| 11 | g.108272560T>A | CA382515136 | ATM | c.3106T>A (p.Phe1036Ile) c.*2577T>A (n.*2577T>A) n.3256T>A c.2941T>A (p.Phe981Ile) c.2062T>A (p.Phe688Ile) c.1798T>A (p.Phe600Ile) n.3839T>A | dbSNP |
| 11 | g.108272560T>C | CA6265196 | ATM | c.3106T>C (p.Phe1036Leu) c.*2577T>C (n.*2577T>C) n.3256T>C c.2941T>C (p.Phe981Leu) c.2062T>C (p.Phe688Leu) c.1798T>C (p.Phe600Leu) n.3839T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108272560T>G | CA382515139 | ATM | c.3106T>G (p.Phe1036Val) c.*2577T>G (n.*2577T>G) n.3256T>G c.2941T>G (p.Phe981Val) c.2062T>G (p.Phe688Val) c.1798T>G (p.Phe600Val) n.3839T>G | |
| 11 | g.108272560T= | CA1998776620 | ATM | c.3106T= (p.Phe1036=) c.*2577T= (n.*2577T=) n.3256T= c.2941T= (p.Phe981=) c.2062T= (p.Phe688=) c.1798T= (p.Phe600=) n.3839T= | |
| 11 | g.108272561T>A | CA382515142 | ATM | c.3107T>A (p.Phe1036Tyr) c.*2578T>A (n.*2578T>A) n.3257T>A c.2942T>A (p.Phe981Tyr) c.2063T>A (p.Phe688Tyr) c.1799T>A (p.Phe600Tyr) n.3840T>A | dbSNP |
| 11 | g.108272561T>C | CA382515144 | ATM | c.3107T>C (p.Phe1036Ser) c.*2578T>C (n.*2578T>C) n.3257T>C c.2942T>C (p.Phe981Ser) c.2063T>C (p.Phe688Ser) c.1799T>C (p.Phe600Ser) n.3840T>C | ClinVar |
| 11 | g.108272561T>G | CA382515146 | ATM | c.3107T>G (p.Phe1036Cys) c.*2578T>G (n.*2578T>G) n.3257T>G c.2942T>G (p.Phe981Cys) c.2063T>G (p.Phe688Cys) c.1799T>G (p.Phe600Cys) n.3840T>G | |
| 11 | g.108272562C>A | CA382515152 | ATM | c.3108C>A (p.Phe1036Leu) c.*2579C>A (n.*2579C>A) n.3258C>A c.2943C>A (p.Phe981Leu) c.2064C>A (p.Phe688Leu) c.1800C>A (p.Phe600Leu) n.3841C>A | ClinVar |
| 11 | g.108272562C= | CA1998776626 | ATM | c.3108C= (p.Phe1036=) c.*2579C= (n.*2579C=) n.3258C= c.2943C= (p.Phe981=) c.2064C= (p.Phe688=) c.1800C= (p.Phe600=) n.3841C= | |
| 11 | g.108272562C>G | CA382515149 | ATM | c.3108C>G (p.Phe1036Leu) c.*2579C>G (n.*2579C>G) n.3258C>G c.2943C>G (p.Phe981Leu) c.2064C>G (p.Phe688Leu) c.1800C>G (p.Phe600Leu) n.3841C>G | ClinVar dbSNP |
| 11 | g.108272562C>T | CA10579084 | ATM | c.3108C>T (p.Phe1036=) c.*2579C>T (n.*2579C>T) n.3258C>T c.2943C>T (p.Phe981=) c.2064C>T (p.Phe688=) c.1800C>T (p.Phe600=) n.3841C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108272562_108272573delinsTAA | CA2580083290 | ATM | c.3108_3119delinsTAA (p.Ser1037_Met1040delinsLys) c.*2579_*2590delinsTAA (n.*2579_*2590delinsTAA) n.3258_3269delinsTAA c.2943_2954delinsTAA (p.Ser982_Met985delinsLys) c.2064_2075delinsTAA (p.Ser689_Met692delinsLys) c.1800_1811delinsTAA (p.Ser601_Met604delinsLys) n.3841_3852delinsTAA | ClinVar |
| 11 | g.108272563T>A | CA382515154 | ATM | c.3109T>A (p.Ser1037Thr) c.*2580T>A (n.*2580T>A) n.3259T>A c.2944T>A (p.Ser982Thr) c.2065T>A (p.Ser689Thr) c.1801T>A (p.Ser601Thr) n.3842T>A | dbSNP |
| 11 | g.108272563T>C | CA382515156 | ATM | c.3109T>C (p.Ser1037Pro) c.*2580T>C (n.*2580T>C) n.3259T>C c.2944T>C (p.Ser982Pro) c.2065T>C (p.Ser689Pro) c.1801T>C (p.Ser601Pro) n.3842T>C | ClinVar dbSNP |
| 11 | g.108272563T>G | CA382515158 | ATM | c.3109T>G (p.Ser1037Ala) c.*2580T>G (n.*2580T>G) n.3259T>G c.2944T>G (p.Ser982Ala) c.2065T>G (p.Ser689Ala) c.1801T>G (p.Ser601Ala) n.3842T>G | |
| 11 | g.108272564del | CA2695215254 | ATM | c.3110del (p.Ser1037LeufsTer2) c.*2581del (n.*2581del) n.3260del c.2945del (p.Ser982LeufsTer2) c.2066del (p.Ser689LeufsTer2) c.1802del (p.Ser601LeufsTer2) n.3843del | |
| 11 | g.108272564C>A | CA382515159 | ATM | c.3110C>A (p.Ser1037Tyr) c.*2581C>A (n.*2581C>A) n.3260C>A c.2945C>A (p.Ser982Tyr) c.2066C>A (p.Ser689Tyr) c.1802C>A (p.Ser601Tyr) n.3843C>A | ClinVar gnomAD v4 |
| 11 | g.108272564C= | CA1998776631 | ATM | c.3110C= (p.Ser1037=) c.*2581C= (n.*2581C=) n.3260C= c.2945C= (p.Ser982=) c.2066C= (p.Ser689=) c.1802C= (p.Ser601=) n.3843C= | |
| 11 | g.108272564C>G | CA382515160 | ATM | c.3110C>G (p.Ser1037Cys) c.*2581C>G (n.*2581C>G) n.3260C>G c.2945C>G (p.Ser982Cys) c.2066C>G (p.Ser689Cys) c.1802C>G (p.Ser601Cys) n.3843C>G | dbSNP gnomAD v4 |
| 11 | g.108272564C>T | CA382515162 | ATM | c.3110C>T (p.Ser1037Phe) c.*2581C>T (n.*2581C>T) n.3260C>T c.2945C>T (p.Ser982Phe) c.2066C>T (p.Ser689Phe) c.1802C>T (p.Ser601Phe) n.3843C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108272565del | CA2695215255 | ATM | c.3111del (p.Val1038Ter) c.*2582del (n.*2582del) n.3261del c.2946del (p.Val983Ter) c.2067del (p.Val690Ter) c.1803del (p.Val602Ter) n.3844del | |
| 11 | g.108272565T>A | CA476744768 | ATM | c.3111T>A (p.Ser1037=) c.*2582T>A (n.*2582T>A) n.3261T>A c.2946T>A (p.Ser982=) c.2067T>A (p.Ser689=) c.1803T>A (p.Ser601=) n.3844T>A | |
| 11 | g.108272565T>C | CA476744769 | ATM | c.3111T>C (p.Ser1037=) c.*2582T>C (n.*2582T>C) n.3261T>C c.2946T>C (p.Ser982=) c.2067T>C (p.Ser689=) c.1803T>C (p.Ser601=) n.3844T>C | ClinVar dbSNP |
| 11 | g.108272565T>G | CA476744770 | ATM | c.3111T>G (p.Ser1037=) c.*2582T>G (n.*2582T>G) n.3261T>G c.2946T>G (p.Ser982=) c.2067T>G (p.Ser689=) c.1803T>G (p.Ser601=) n.3844T>G | |
| 11 | g.108272565T= | CA1998776634 | ATM | c.3111T= (p.Ser1037=) c.*2582T= (n.*2582T=) n.3261T= c.2946T= (p.Ser982=) c.2067T= (p.Ser689=) c.1803T= (p.Ser601=) n.3844T= | |
| 11 | g.108272566_108272567del | CA2573146632 | ATM | c.3112_3113del (p.Val1038LysfsTer9) c.*2583_*2584del (n.*2583_*2584del) n.3262_3263del c.2947_2948del (p.Val983LysfsTer9) c.2068_2069del (p.Val690LysfsTer9) c.1804_1805del (p.Val602LysfsTer9) n.3845_3846del | ClinVar dbSNP |
| 11 | g.108272566G>A | CA382515163 | ATM | c.3112G>A (p.Val1038Ile) c.*2583G>A (n.*2583G>A) n.3262G>A c.2947G>A (p.Val983Ile) c.2068G>A (p.Val690Ile) c.1804G>A (p.Val602Ile) n.3845G>A | ClinVar dbSNP gnomAD v4 |