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.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.108272741G>A | CA382515586 | ATM | c.3173G>A (p.Trp1058Ter) c.*2644G>A (n.*2644G>A) n.3323G>A c.3008G>A (p.Trp1003Ter) c.2129G>A (p.Trp710Ter) c.1865G>A (p.Trp622Ter) n.3906G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108272741G>C | CA382515590 | ATM | c.3173G>C (p.Trp1058Ser) c.*2644G>C (n.*2644G>C) n.3323G>C c.3008G>C (p.Trp1003Ser) c.2129G>C (p.Trp710Ser) c.1865G>C (p.Trp622Ser) n.3906G>C | dbSNP |
| 11 | g.108272741G= | CA1998777115 | ATM | c.3173G= (p.Trp1058=) c.*2644G= (n.*2644G=) n.3323G= c.3008G= (p.Trp1003=) c.2129G= (p.Trp710=) c.1865G= (p.Trp622=) n.3906G= | |
| 11 | g.108272741G>T | CA382515588 | ATM | c.3173G>T (p.Trp1058Leu) c.*2644G>T (n.*2644G>T) n.3323G>T c.3008G>T (p.Trp1003Leu) c.2129G>T (p.Trp710Leu) c.1865G>T (p.Trp622Leu) n.3906G>T | ClinVar gnomAD v4 |
| 11 | g.108272743del | CA2725190351 | ATM | c.3175del (p.Ala1059ProfsTer5) c.*2646del (n.*2646del) n.3325del c.3010del (p.Ala1004ProfsTer5) c.2131del (p.Ala711ProfsTer5) c.1867del (p.Ala623ProfsTer5) n.3908del | dbSNP |
| 11 | g.108272742G>A | CA382515593 | ATM | c.3174G>A (p.Trp1058Ter) c.*2645G>A (n.*2645G>A) n.3324G>A c.3009G>A (p.Trp1003Ter) c.2130G>A (p.Trp710Ter) c.1866G>A (p.Trp622Ter) n.3907G>A | ClinVar dbSNP |
| 11 | g.108272742G>C | CA16619156 | ATM | c.3174G>C (p.Trp1058Cys) c.*2645G>C (n.*2645G>C) n.3324G>C c.3009G>C (p.Trp1003Cys) c.2130G>C (p.Trp710Cys) c.1866G>C (p.Trp622Cys) n.3907G>C | ClinVar dbSNP |
| 11 | g.108272742G= | CA1998777119 | ATM | c.3174G= (p.Trp1058=) c.*2645G= (n.*2645G=) n.3324G= c.3009G= (p.Trp1003=) c.2130G= (p.Trp710=) c.1866G= (p.Trp622=) n.3907G= | |
| 11 | g.108272742G>T | CA382515596 | ATM | c.3174G>T (p.Trp1058Cys) c.*2645G>T (n.*2645G>T) n.3324G>T c.3009G>T (p.Trp1003Cys) c.2130G>T (p.Trp710Cys) c.1866G>T (p.Trp622Cys) n.3907G>T | dbSNP |
| 11 | g.108272743G>A | CA204829 | ATM | c.3175G>A (p.Ala1059Thr) c.*2646G>A (n.*2646G>A) n.3325G>A c.3010G>A (p.Ala1004Thr) c.2131G>A (p.Ala711Thr) c.1867G>A (p.Ala623Thr) n.3908G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272743G>C | CA382515598 | ATM | c.3175G>C (p.Ala1059Pro) c.*2646G>C (n.*2646G>C) n.3325G>C c.3010G>C (p.Ala1004Pro) c.2131G>C (p.Ala711Pro) c.1867G>C (p.Ala623Pro) n.3908G>C | dbSNP |
| 11 | g.108272743G= | CA1998777126 | ATM | c.3175G= (p.Ala1059=) c.*2646G= (n.*2646G=) n.3325G= c.3010G= (p.Ala1004=) c.2131G= (p.Ala711=) c.1867G= (p.Ala623=) n.3908G= | |
| 11 | g.108272743G>T | CA6265219 | ATM | c.3175G>T (p.Ala1059Ser) c.*2646G>T (n.*2646G>T) n.3325G>T c.3010G>T (p.Ala1004Ser) c.2131G>T (p.Ala711Ser) c.1867G>T (p.Ala623Ser) n.3908G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108272744C>A | CA382515602 | ATM | c.3176C>A (p.Ala1059Asp) c.*2647C>A (n.*2647C>A) n.3326C>A c.3011C>A (p.Ala1004Asp) c.2132C>A (p.Ala711Asp) c.1868C>A (p.Ala623Asp) n.3909C>A | dbSNP |
| 11 | g.108272744C= | CA1998777131 | ATM | c.3176C= (p.Ala1059=) c.*2647C= (n.*2647C=) n.3326C= c.3011C= (p.Ala1004=) c.2132C= (p.Ala711=) c.1868C= (p.Ala623=) n.3909C= | |
| 11 | g.108272744C>G | CA382515604 | ATM | c.3176C>G (p.Ala1059Gly) c.*2647C>G (n.*2647C>G) n.3326C>G c.3011C>G (p.Ala1004Gly) c.2132C>G (p.Ala711Gly) c.1868C>G (p.Ala623Gly) n.3909C>G | dbSNP |
| 11 | g.108272744C>T | CA6265220 | ATM | c.3176C>T (p.Ala1059Val) c.*2647C>T (n.*2647C>T) n.3326C>T c.3011C>T (p.Ala1004Val) c.2132C>T (p.Ala711Val) c.1868C>T (p.Ala623Val) n.3909C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272745C>A | CA476745072 | ATM | c.3177C>A (p.Ala1059=) c.*2648C>A (n.*2648C>A) n.3327C>A c.3012C>A (p.Ala1004=) c.2133C>A (p.Ala711=) c.1869C>A (p.Ala623=) n.3910C>A | dbSNP |
| 11 | g.108272745C= | CA1998777135 | ATM | c.3177C= (p.Ala1059=) c.*2648C= (n.*2648C=) n.3327C= c.3012C= (p.Ala1004=) c.2133C= (p.Ala711=) c.1869C= (p.Ala623=) n.3910C= | |
| 11 | g.108272745C>G | CA476745073 | ATM | c.3177C>G (p.Ala1059=) c.*2648C>G (n.*2648C>G) n.3327C>G c.3012C>G (p.Ala1004=) c.2133C>G (p.Ala711=) c.1869C>G (p.Ala623=) n.3910C>G | ClinVar dbSNP |
| 11 | g.108272745C>T | CA228357881 | ATM | c.3177C>T (p.Ala1059=) c.*2648C>T (n.*2648C>T) n.3327C>T c.3012C>T (p.Ala1004=) c.2133C>T (p.Ala711=) c.1869C>T (p.Ala623=) n.3910C>T | dbSNP |
| 11 | g.108272746A= | CA1998777140 | ATM | c.3178A= (p.Ile1060=) c.*2649A= (n.*2649A=) n.3328A= c.3013A= (p.Ile1005=) c.2134A= (p.Ile712=) c.1870A= (p.Ile624=) n.3911A= | |
| 11 | g.108272746A>C | CA382515609 | ATM | c.3178A>C (p.Ile1060Leu) c.*2649A>C (n.*2649A>C) n.3328A>C c.3013A>C (p.Ile1005Leu) c.2134A>C (p.Ile712Leu) c.1870A>C (p.Ile624Leu) n.3911A>C | |
| 11 | g.108272746A>G | CA382515611 | ATM | c.3178A>G (p.Ile1060Val) c.*2649A>G (n.*2649A>G) n.3328A>G c.3013A>G (p.Ile1005Val) c.2134A>G (p.Ile712Val) c.1870A>G (p.Ile624Val) n.3911A>G | ClinVar dbSNP |
| 11 | g.108272746A>T | CA382515613 | ATM | c.3178A>T (p.Ile1060Phe) c.*2649A>T (n.*2649A>T) n.3328A>T c.3013A>T (p.Ile1005Phe) c.2134A>T (p.Ile712Phe) c.1870A>T (p.Ile624Phe) n.3911A>T | dbSNP |
| 11 | g.108272747T>A | CA382515621 | ATM | c.3179T>A (p.Ile1060Asn) c.*2650T>A (n.*2650T>A) n.3329T>A c.3014T>A (p.Ile1005Asn) c.2135T>A (p.Ile712Asn) c.1871T>A (p.Ile624Asn) n.3912T>A | dbSNP |
| 11 | g.108272747T>C | CA382515619 | ATM | c.3179T>C (p.Ile1060Thr) c.*2650T>C (n.*2650T>C) n.3329T>C c.3014T>C (p.Ile1005Thr) c.2135T>C (p.Ile712Thr) c.1871T>C (p.Ile624Thr) n.3912T>C | |
| 11 | g.108272747T>G | CA382515616 | ATM | c.3179T>G (p.Ile1060Ser) c.*2650T>G (n.*2650T>G) n.3329T>G c.3014T>G (p.Ile1005Ser) c.2135T>G (p.Ile712Ser) c.1871T>G (p.Ile624Ser) n.3912T>G | dbSNP |
| 11 | g.108272749_108272751del | CA2615856555 | ATM | c.3181_3183del (p.Leu1061del) c.*2652_*2654del (n.*2652_*2654del) n.3331_3333del c.3016_3018del (p.Leu1006del) c.2137_2139del (p.Leu713del) c.1873_1875del (p.Leu625del) n.3914_3916del | gnomAD v4 |
| 11 | g.108272748T>A | CA476745075 | ATM | c.3180T>A (p.Ile1060=) c.*2651T>A (n.*2651T>A) n.3330T>A c.3015T>A (p.Ile1005=) c.2136T>A (p.Ile712=) c.1872T>A (p.Ile624=) n.3913T>A | dbSNP |
| 11 | g.108272748T>C | CA476745076 | ATM | c.3180T>C (p.Ile1060=) c.*2651T>C (n.*2651T>C) n.3330T>C c.3015T>C (p.Ile1005=) c.2136T>C (p.Ile712=) c.1872T>C (p.Ile624=) n.3913T>C | |
| 11 | g.108272748T>G | CA382515623 | ATM | c.3180T>G (p.Ile1060Met) c.*2651T>G (n.*2651T>G) n.3330T>G c.3015T>G (p.Ile1005Met) c.2136T>G (p.Ile712Met) c.1872T>G (p.Ile624Met) n.3913T>G | |
| 11 | g.108272748_108272749delinsTC | CA1998777144 | ATM | c.3180_3181delinsTC (p.Ile1060=) c.*2651_*2652delinsTC (n.*2651_*2652delinsTC) n.3330_3331delinsTC c.3015_3016delinsTC (p.Ile1005=) c.2136_2137delinsTC (p.Ile712=) c.1872_1873delinsTC (p.Ile624=) n.3913_3914delinsTC | |
| 11 | g.108272749del | CA916079950 | ATM | c.3181del (p.Asn1062MetfsTer2) c.*2652del (n.*2652del) n.3331del c.3016del (p.Asn1007MetfsTer2) c.2137del (p.Asn714MetfsTer2) c.1873del (p.Asn626MetfsTer2) n.3914del | ClinVar dbSNP |
| 11 | g.108272749C>A | CA382515627 | ATM | c.3181C>A (p.Leu1061Ile) c.*2652C>A (n.*2652C>A) n.3331C>A c.3016C>A (p.Leu1006Ile) c.2137C>A (p.Leu713Ile) c.1873C>A (p.Leu625Ile) n.3914C>A | dbSNP |
| 11 | g.108272749C= | CA1998777154 | ATM | c.3181C= (p.Leu1061=) c.*2652C= (n.*2652C=) n.3331C= c.3016C= (p.Leu1006=) c.2137C= (p.Leu713=) c.1873C= (p.Leu625=) n.3914C= | |
| 11 | g.108272749C>G | CA382515629 | ATM | c.3181C>G (p.Leu1061Val) c.*2652C>G (n.*2652C>G) n.3331C>G c.3016C>G (p.Leu1006Val) c.2137C>G (p.Leu713Val) c.1873C>G (p.Leu625Val) n.3914C>G | ClinVar dbSNP |
| 11 | g.108272749C>T | CA382515630 | ATM | c.3181C>T (p.Leu1061Phe) c.*2652C>T (n.*2652C>T) n.3331C>T c.3016C>T (p.Leu1006Phe) c.2137C>T (p.Leu713Phe) c.1873C>T (p.Leu625Phe) n.3914C>T | ClinVar dbSNP |
| 11 | g.108272750T>A | CA382515634 | ATM | c.3182T>A (p.Leu1061His) c.*2653T>A (n.*2653T>A) n.3332T>A c.3017T>A (p.Leu1006His) c.2138T>A (p.Leu713His) c.1874T>A (p.Leu625His) n.3915T>A | |
| 11 | g.108272750T>C | CA382515637 | ATM | c.3182T>C (p.Leu1061Pro) c.*2653T>C (n.*2653T>C) n.3332T>C c.3017T>C (p.Leu1006Pro) c.2138T>C (p.Leu713Pro) c.1874T>C (p.Leu625Pro) n.3915T>C | COSMIC COSMIC |
| 11 | g.108272750T>G | CA382515639 | ATM | c.3182T>G (p.Leu1061Arg) c.*2653T>G (n.*2653T>G) n.3332T>G c.3017T>G (p.Leu1006Arg) c.2138T>G (p.Leu713Arg) c.1874T>G (p.Leu625Arg) n.3915T>G | |
| 11 | g.108272751T>A | CA476745079 | ATM | c.3183T>A (p.Leu1061=) c.*2654T>A (n.*2654T>A) n.3333T>A c.3018T>A (p.Leu1006=) c.2139T>A (p.Leu713=) c.1875T>A (p.Leu625=) n.3916T>A | |
| 11 | g.108272751T>C | CA476745080 | ATM | c.3183T>C (p.Leu1061=) c.*2654T>C (n.*2654T>C) n.3333T>C c.3018T>C (p.Leu1006=) c.2139T>C (p.Leu713=) c.1875T>C (p.Leu625=) n.3916T>C | |
| 11 | g.108272751T>G | CA476745081 | ATM | c.3183T>G (p.Leu1061=) c.*2654T>G (n.*2654T>G) n.3333T>G c.3018T>G (p.Leu1006=) c.2139T>G (p.Leu713=) c.1875T>G (p.Leu625=) n.3916T>G | |
| 11 | g.108272756_108272760del | CA2580616435 | ATM | c.3188_3192del (p.Val1063GlyfsTer8) c.*2659_*2663del (n.*2659_*2663del) n.3338_3342del c.3023_3027del (p.Val1008GlyfsTer8) c.2144_2148del (p.Val715GlyfsTer8) c.1880_1884del (p.Val627GlyfsTer8) n.3921_3925del | ClinVar dbSNP |
| 11 | g.108272752A>C | CA382515649 | ATM | c.3184A>C (p.Asn1062His) c.*2655A>C (n.*2655A>C) n.3334A>C c.3019A>C (p.Asn1007His) c.2140A>C (p.Asn714His) c.1876A>C (p.Asn626His) n.3917A>C | |
| 11 | g.108272752A>G | CA382515643 | ATM | c.3184A>G (p.Asn1062Asp) c.*2655A>G (n.*2655A>G) n.3334A>G c.3019A>G (p.Asn1007Asp) c.2140A>G (p.Asn714Asp) c.1876A>G (p.Asn626Asp) n.3917A>G | dbSNP |
| 11 | g.108272752A>T | CA382515646 | ATM | c.3184A>T (p.Asn1062Tyr) c.*2655A>T (n.*2655A>T) n.3334A>T c.3019A>T (p.Asn1007Tyr) c.2140A>T (p.Asn714Tyr) c.1876A>T (p.Asn626Tyr) n.3917A>T | dbSNP |
| 11 | g.108272753A= | CA1998777165 | ATM | c.3185A= (p.Asn1062=) c.*2656A= (n.*2656A=) n.3335A= c.3020A= (p.Asn1007=) c.2141A= (p.Asn714=) c.1877A= (p.Asn626=) n.3918A= |