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.108267276_108267277insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT | CA2739270941 | ATM | c.2572_2573insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe858TrpfsTer6) c.*2043_*2044insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (n.*2043_*2044insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT) n.2706_2707insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT n.2722_2723insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT n.2067_2068insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT c.*1507_*1508insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (n.*1507_*1508insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT) c.2407_2408insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe803TrpfsTer6) c.1528_1529insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe510TrpfsTer6) c.1264_1265insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe422TrpfsTer6) n.3305_3306insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT | ClinVar |
| 11 | g.108267241T>A | CA382543588 | ATM | c.2537T>A (p.Leu846Gln) c.*2008T>A (n.*2008T>A) n.2671T>A n.2687T>A n.2032T>A c.*1472T>A (n.*1472T>A) c.2372T>A (p.Leu791Gln) c.1493T>A (p.Leu498Gln) c.1229T>A (p.Leu410Gln) n.3270T>A | |
| 11 | g.108267241T>C | CA382543590 | ATM | c.2537T>C (p.Leu846Pro) c.*2008T>C (n.*2008T>C) n.2671T>C n.2687T>C n.2032T>C c.*1472T>C (n.*1472T>C) c.2372T>C (p.Leu791Pro) c.1493T>C (p.Leu498Pro) c.1229T>C (p.Leu410Pro) n.3270T>C | ClinVar dbSNP |
| 11 | g.108267241T>G | CA382543592 | ATM | c.2537T>G (p.Leu846Arg) c.*2008T>G (n.*2008T>G) n.2671T>G n.2687T>G n.2032T>G c.*1472T>G (n.*1472T>G) c.2372T>G (p.Leu791Arg) c.1493T>G (p.Leu498Arg) c.1229T>G (p.Leu410Arg) n.3270T>G | gnomAD v4 |
| 11 | g.108267242A= | CA1998783253 | ATM | c.2538A= (p.Leu846=) c.*2009A= (n.*2009A=) n.2672A= n.2688A= n.2033A= c.*1473A= (n.*1473A=) c.2373A= (p.Leu791=) c.1494A= (p.Leu498=) c.1230A= (p.Leu410=) n.3271A= | |
| 11 | g.108267242A>C | CA16613025 | ATM | c.2538A>C (p.Leu846=) c.*2009A>C (n.*2009A>C) n.2672A>C n.2688A>C n.2033A>C c.*1473A>C (n.*1473A>C) c.2373A>C (p.Leu791=) c.1494A>C (p.Leu498=) c.1230A>C (p.Leu410=) n.3271A>C | ClinVar dbSNP |
| 11 | g.108267242A>G | CA6265057 | ATM | c.2538A>G (p.Leu846=) c.*2009A>G (n.*2009A>G) n.2672A>G n.2688A>G n.2033A>G c.*1473A>G (n.*1473A>G) c.2373A>G (p.Leu791=) c.1494A>G (p.Leu498=) c.1230A>G (p.Leu410=) n.3271A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267242A>T | CA476673602 | ATM | c.2538A>T (p.Leu846=) c.*2009A>T (n.*2009A>T) n.2672A>T n.2688A>T n.2033A>T c.*1473A>T (n.*1473A>T) c.2373A>T (p.Leu791=) c.1494A>T (p.Leu498=) c.1230A>T (p.Leu410=) n.3271A>T | |
| 11 | g.108267243_108267247del | CA2580082990 | ATM | c.2539_2543del (p.Met847GlyfsTer11) c.*2010_*2014del (n.*2010_*2014del) n.2673_2677del n.2689_2693del n.2034_2038del c.*1474_*1478del (n.*1474_*1478del) c.2374_2378del (p.Met792GlyfsTer11) c.1495_1499del (p.Met499GlyfsTer11) c.1231_1235del (p.Met411GlyfsTer11) n.3272_3276del | ClinVar |
| 11 | g.108267243A= | CA1998783254 | ATM | c.2539A= (p.Met847=) c.*2010A= (n.*2010A=) n.2673A= n.2689A= n.2034A= c.*1474A= (n.*1474A=) c.2374A= (p.Met792=) c.1495A= (p.Met499=) c.1231A= (p.Met411=) n.3272A= | |
| 11 | g.108267243A>C | CA382543602 | ATM | c.2539A>C (p.Met847Leu) c.*2010A>C (n.*2010A>C) n.2673A>C n.2689A>C n.2034A>C c.*1474A>C (n.*1474A>C) c.2374A>C (p.Met792Leu) c.1495A>C (p.Met499Leu) c.1231A>C (p.Met411Leu) n.3272A>C | |
| 11 | g.108267243A>G | CA286760 | ATM | c.2539A>G (p.Met847Val) c.*2010A>G (n.*2010A>G) n.2673A>G n.2689A>G n.2034A>G c.*1474A>G (n.*1474A>G) c.2374A>G (p.Met792Val) c.1495A>G (p.Met499Val) c.1231A>G (p.Met411Val) n.3272A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108267243A>T | CA10579059 | ATM | c.2539A>T (p.Met847Leu) c.*2010A>T (n.*2010A>T) n.2673A>T n.2689A>T n.2034A>T c.*1474A>T (n.*1474A>T) c.2374A>T (p.Met792Leu) c.1495A>T (p.Met499Leu) c.1231A>T (p.Met411Leu) n.3272A>T | ClinVar dbSNP |
| 11 | g.108267244T>A | CA382543607 | ATM | c.2540T>A (p.Met847Lys) c.*2011T>A (n.*2011T>A) n.2674T>A n.2690T>A n.2035T>A c.*1475T>A (n.*1475T>A) c.2375T>A (p.Met792Lys) c.1496T>A (p.Met499Lys) c.1232T>A (p.Met411Lys) n.3273T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267244T>C | CA382543630 | ATM | c.2540T>C (p.Met847Thr) c.*2011T>C (n.*2011T>C) n.2674T>C n.2690T>C n.2035T>C c.*1475T>C (n.*1475T>C) c.2375T>C (p.Met792Thr) c.1496T>C (p.Met499Thr) c.1232T>C (p.Met411Thr) n.3273T>C | ClinVar dbSNP |
| 11 | g.108267244T>G | CA382543637 | ATM | c.2540T>G (p.Met847Arg) c.*2011T>G (n.*2011T>G) n.2674T>G n.2690T>G n.2035T>G c.*1475T>G (n.*1475T>G) c.2375T>G (p.Met792Arg) c.1496T>G (p.Met499Arg) c.1232T>G (p.Met411Arg) n.3273T>G | |
| 11 | g.108267244T= | CA1998783255 | ATM | c.2540T= (p.Met847=) c.*2011T= (n.*2011T=) n.2674T= n.2690T= n.2035T= c.*1475T= (n.*1475T=) c.2375T= (p.Met792=) c.1496T= (p.Met499=) c.1232T= (p.Met411=) n.3273T= | |
| 11 | g.108267245G>A | CA349947 | ATM | c.2541G>A (p.Met847Ile) c.*2012G>A (n.*2012G>A) n.2675G>A n.2691G>A n.2036G>A c.*1476G>A (n.*1476G>A) c.2376G>A (p.Met792Ile) c.1497G>A (p.Met499Ile) c.1233G>A (p.Met411Ile) n.3274G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267245G>C | CA382543646 | ATM | c.2541G>C (p.Met847Ile) c.*2012G>C (n.*2012G>C) n.2675G>C n.2691G>C n.2036G>C c.*1476G>C (n.*1476G>C) c.2376G>C (p.Met792Ile) c.1497G>C (p.Met499Ile) c.1233G>C (p.Met411Ile) n.3274G>C | dbSNP |
| 11 | g.108267245G= | CA1998783256 | ATM | c.2541G= (p.Met847=) c.*2012G= (n.*2012G=) n.2675G= n.2691G= n.2036G= c.*1476G= (n.*1476G=) c.2376G= (p.Met792=) c.1497G= (p.Met499=) c.1233G= (p.Met411=) n.3274G= | |
| 11 | g.108267245G>T | CA382543647 | ATM | c.2541G>T (p.Met847Ile) c.*2012G>T (n.*2012G>T) n.2675G>T n.2691G>T n.2036G>T c.*1476G>T (n.*1476G>T) c.2376G>T (p.Met792Ile) c.1497G>T (p.Met499Ile) c.1233G>T (p.Met411Ile) n.3274G>T | gnomAD v4 |
| 11 | g.108267246G>A | CA10584332 | ATM | c.2542G>A (p.Glu848Lys) c.*2013G>A (n.*2013G>A) n.2676G>A n.2692G>A n.2037G>A c.*1477G>A (n.*1477G>A) c.2377G>A (p.Glu793Lys) c.1498G>A (p.Glu500Lys) c.1234G>A (p.Glu412Lys) n.3275G>A | ClinVar dbSNP |
| 11 | g.108267246G>C | CA382543653 | ATM | c.2542G>C (p.Glu848Gln) c.*2013G>C (n.*2013G>C) n.2676G>C n.2692G>C n.2037G>C c.*1477G>C (n.*1477G>C) c.2377G>C (p.Glu793Gln) c.1498G>C (p.Glu500Gln) c.1234G>C (p.Glu412Gln) n.3275G>C | ClinVar dbSNP COSMIC |
| 11 | g.108267246G= | CA1998783257 | ATM | c.2542G= (p.Glu848=) c.*2013G= (n.*2013G=) n.2676G= n.2692G= n.2037G= c.*1477G= (n.*1477G=) c.2377G= (p.Glu793=) c.1498G= (p.Glu500=) c.1234G= (p.Glu412=) n.3275G= | |
| 11 | g.108267246G>T | CA16041393 | ATM | c.2542G>T (p.Glu848Ter) c.*2013G>T (n.*2013G>T) n.2676G>T n.2692G>T n.2037G>T c.*1477G>T (n.*1477G>T) c.2377G>T (p.Glu793Ter) c.1498G>T (p.Glu500Ter) c.1234G>T (p.Glu412Ter) n.3275G>T | ClinVar dbSNP COSMIC |
| 11 | g.108267247del | CA2695215243 | ATM | c.2543del (p.Glu848GlyfsTer8) c.*2014del (n.*2014del) n.2677del n.2693del n.2038del c.*1478del (n.*1478del) c.2378del (p.Glu793GlyfsTer8) c.1499del (p.Glu500GlyfsTer8) c.1235del (p.Glu412GlyfsTer8) n.3276del | |
| 11 | g.108267247A= | CA1998783258 | ATM | c.2543A= (p.Glu848=) c.*2014A= (n.*2014A=) n.2677A= n.2693A= n.2038A= c.*1478A= (n.*1478A=) c.2378A= (p.Glu793=) c.1499A= (p.Glu500=) c.1235A= (p.Glu412=) n.3276A= | |
| 11 | g.108267247A>C | CA382543659 | ATM | c.2543A>C (p.Glu848Ala) c.*2014A>C (n.*2014A>C) n.2677A>C n.2693A>C n.2038A>C c.*1478A>C (n.*1478A>C) c.2378A>C (p.Glu793Ala) c.1499A>C (p.Glu500Ala) c.1235A>C (p.Glu412Ala) n.3276A>C | |
| 11 | g.108267247A>G | CA16613369 | ATM | c.2543A>G (p.Glu848Gly) c.*2014A>G (n.*2014A>G) n.2677A>G n.2693A>G n.2038A>G c.*1478A>G (n.*1478A>G) c.2378A>G (p.Glu793Gly) c.1499A>G (p.Glu500Gly) c.1235A>G (p.Glu412Gly) n.3276A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267247A>T | CA382543664 | ATM | c.2543A>T (p.Glu848Val) c.*2014A>T (n.*2014A>T) n.2677A>T n.2693A>T n.2038A>T c.*1478A>T (n.*1478A>T) c.2378A>T (p.Glu793Val) c.1499A>T (p.Glu500Val) c.1235A>T (p.Glu412Val) n.3276A>T | dbSNP COSMIC |
| 11 | g.108267248G>A | CA476673605 | ATM | c.2544G>A (p.Glu848=) c.*2015G>A (n.*2015G>A) n.2678G>A n.2694G>A n.2039G>A c.*1479G>A (n.*1479G>A) c.2379G>A (p.Glu793=) c.1500G>A (p.Glu500=) c.1236G>A (p.Glu412=) n.3277G>A | ClinVar dbSNP |
| 11 | g.108267248G>C | CA16613027 | ATM | c.2544G>C (p.Glu848Asp) c.*2015G>C (n.*2015G>C) n.2678G>C n.2694G>C n.2039G>C c.*1479G>C (n.*1479G>C) c.2379G>C (p.Glu793Asp) c.1500G>C (p.Glu500Asp) c.1236G>C (p.Glu412Asp) n.3277G>C | ClinVar dbSNP |
| 11 | g.108267248G= | CA1998783259 | ATM | c.2544G= (p.Glu848=) c.*2015G= (n.*2015G=) n.2678G= n.2694G= n.2039G= c.*1479G= (n.*1479G=) c.2379G= (p.Glu793=) c.1500G= (p.Glu500=) c.1236G= (p.Glu412=) n.3277G= | |
| 11 | g.108267248G>T | CA382543668 | ATM | c.2544G>T (p.Glu848Asp) c.*2015G>T (n.*2015G>T) n.2678G>T n.2694G>T n.2039G>T c.*1479G>T (n.*1479G>T) c.2379G>T (p.Glu793Asp) c.1500G>T (p.Glu500Asp) c.1236G>T (p.Glu412Asp) n.3277G>T | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.108267249G>A | CA382543673 | ATM | c.2545G>A (p.Val849Met) c.*2016G>A (n.*2016G>A) n.2679G>A n.2695G>A n.2040G>A c.*1480G>A (n.*1480G>A) c.2380G>A (p.Val794Met) c.1501G>A (p.Val501Met) c.1237G>A (p.Val413Met) n.3278G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267249G>C | CA382543674 | ATM | c.2545G>C (p.Val849Leu) c.*2016G>C (n.*2016G>C) n.2679G>C n.2695G>C n.2040G>C c.*1480G>C (n.*1480G>C) c.2380G>C (p.Val794Leu) c.1501G>C (p.Val501Leu) c.1237G>C (p.Val413Leu) n.3278G>C | dbSNP |
| 11 | g.108267249G= | CA1998783260 | ATM | c.2545G= (p.Val849=) c.*2016G= (n.*2016G=) n.2679G= n.2695G= n.2040G= c.*1480G= (n.*1480G=) c.2380G= (p.Val794=) c.1501G= (p.Val501=) c.1237G= (p.Val413=) n.3278G= | |
| 11 | g.108267249G>T | CA382543676 | ATM | c.2545G>T (p.Val849Leu) c.*2016G>T (n.*2016G>T) n.2679G>T n.2695G>T n.2040G>T c.*1480G>T (n.*1480G>T) c.2380G>T (p.Val794Leu) c.1501G>T (p.Val501Leu) c.1237G>T (p.Val413Leu) n.3278G>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.108267250T>A | CA382543679 | ATM | c.2546T>A (p.Val849Glu) c.*2017T>A (n.*2017T>A) n.2680T>A n.2696T>A n.2041T>A c.*1481T>A (n.*1481T>A) c.2381T>A (p.Val794Glu) c.1502T>A (p.Val501Glu) c.1238T>A (p.Val413Glu) n.3279T>A | |
| 11 | g.108267250T>C | CA382543683 | ATM | c.2546T>C (p.Val849Ala) c.*2017T>C (n.*2017T>C) n.2680T>C n.2696T>C n.2041T>C c.*1481T>C (n.*1481T>C) c.2381T>C (p.Val794Ala) c.1502T>C (p.Val501Ala) c.1238T>C (p.Val413Ala) n.3279T>C | ClinVar dbSNP |
| 11 | g.108267250T>G | CA382543694 | ATM | c.2546T>G (p.Val849Gly) c.*2017T>G (n.*2017T>G) n.2680T>G n.2696T>G n.2041T>G c.*1481T>G (n.*1481T>G) c.2381T>G (p.Val794Gly) c.1502T>G (p.Val501Gly) c.1238T>G (p.Val413Gly) n.3279T>G | dbSNP |
| 11 | g.108267250T= | CA1998783261 | ATM | c.2546T= (p.Val849=) c.*2017T= (n.*2017T=) n.2680T= n.2696T= n.2041T= c.*1481T= (n.*1481T=) c.2381T= (p.Val794=) c.1502T= (p.Val501=) c.1238T= (p.Val413=) n.3279T= | |
| 11 | g.108267251G>A | CA16613106 | ATM | c.2547G>A (p.Val849=) c.*2018G>A (n.*2018G>A) n.2681G>A n.2697G>A n.2042G>A c.*1482G>A (n.*1482G>A) c.2382G>A (p.Val794=) c.1503G>A (p.Val501=) c.1239G>A (p.Val413=) n.3280G>A | ClinVar dbSNP |
| 11 | g.108267251G>C | CA476673609 | ATM | c.2547G>C (p.Val849=) c.*2018G>C (n.*2018G>C) n.2681G>C n.2697G>C n.2042G>C c.*1482G>C (n.*1482G>C) c.2382G>C (p.Val794=) c.1503G>C (p.Val501=) c.1239G>C (p.Val413=) n.3280G>C | dbSNP |
| 11 | g.108267251G= | CA1998783262 | ATM | c.2547G= (p.Val849=) c.*2018G= (n.*2018G=) n.2681G= n.2697G= n.2042G= c.*1482G= (n.*1482G=) c.2382G= (p.Val794=) c.1503G= (p.Val501=) c.1239G= (p.Val413=) n.3280G= | |
| 11 | g.108267251G>T | CA476673611 | ATM | c.2547G>T (p.Val849=) c.*2018G>T (n.*2018G>T) n.2681G>T n.2697G>T n.2042G>T c.*1482G>T (n.*1482G>T) c.2382G>T (p.Val794=) c.1503G>T (p.Val501=) c.1239G>T (p.Val413=) n.3280G>T | |
| 11 | g.108267251_108267252delinsTT | CA2695215244 | ATM | c.2547_2548delinsTT (p.Val850Ter) c.*2018_*2019delinsTT (n.*2018_*2019delinsTT) n.2681_2682delinsTT n.2697_2698delinsTT n.2042_2043delinsTT c.*1482_*1483delinsTT (n.*1482_*1483delinsTT) c.2382_2383delinsTT (p.Val795Ter) c.1503_1504delinsTT (p.Val502Ter) c.1239_1240delinsTT (p.Val414Ter) n.3280_3281delinsTT | |
| 11 | g.108267252del | CA2582342451 | ATM | c.2548del (p.Glu850ArgfsTer6) c.*2019del (n.*2019del) n.2682del n.2698del n.2043del c.*1483del (n.*1483del) c.2383del (p.Glu795ArgfsTer6) c.1504del (p.Glu502ArgfsTer6) c.1240del (p.Glu414ArgfsTer6) n.3281del | ClinVar |
| 11 | g.108267252G>A | CA382543700 | ATM | c.2548G>A (p.Glu850Lys) c.*2019G>A (n.*2019G>A) n.2682G>A n.2698G>A n.2043G>A c.*1483G>A (n.*1483G>A) c.2383G>A (p.Glu795Lys) c.1504G>A (p.Glu502Lys) c.1240G>A (p.Glu414Lys) n.3281G>A | dbSNP |
| 11 | g.108267252G>C | CA382543697 | ATM | c.2548G>C (p.Glu850Gln) c.*2019G>C (n.*2019G>C) n.2682G>C n.2698G>C n.2043G>C c.*1483G>C (n.*1483G>C) c.2383G>C (p.Glu795Gln) c.1504G>C (p.Glu502Gln) c.1240G>C (p.Glu414Gln) n.3281G>C | dbSNP |