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.108267234_108267239del | CA228406341 | ATM | c.2530_2535del (p.Gly844_Asn845del) c.*2001_*2006del (n.*2001_*2006del) n.2664_2669del n.2680_2685del n.2025_2030del c.*1465_*1470del (n.*1465_*1470del) c.2365_2370del (p.Gly789_Asn790del) c.1486_1491del (p.Gly496_Asn497del) c.1222_1227del (p.Gly408_Asn409del) n.3263_3268del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 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.108267238del | CA915948366 | ATM | c.2534del (p.Asn845IlefsTer2) c.*2005del (n.*2005del) n.2668del n.2684del n.2029del c.*1469del (n.*1469del) c.2369del (p.Asn790IlefsTer2) c.1490del (p.Asn497IlefsTer2) c.1226del (p.Asn409IlefsTer2) n.3267del | ClinVar dbSNP |
| 11 | g.108267238A= | CA1998783251 | ATM | c.2534A= (p.Asn845=) c.*2005A= (n.*2005A=) n.2668A= n.2684A= n.2029A= c.*1469A= (n.*1469A=) c.2369A= (p.Asn790=) c.1490A= (p.Asn497=) c.1226A= (p.Asn409=) n.3267A= | |
| 11 | g.108267238A>C | CA382543574 | ATM | c.2534A>C (p.Asn845Thr) c.*2005A>C (n.*2005A>C) n.2668A>C n.2684A>C n.2029A>C c.*1469A>C (n.*1469A>C) c.2369A>C (p.Asn790Thr) c.1490A>C (p.Asn497Thr) c.1226A>C (p.Asn409Thr) n.3267A>C | |
| 11 | g.108267238A>G | CA16613104 | ATM | c.2534A>G (p.Asn845Ser) c.*2005A>G (n.*2005A>G) n.2668A>G n.2684A>G n.2029A>G c.*1469A>G (n.*1469A>G) c.2369A>G (p.Asn790Ser) c.1490A>G (p.Asn497Ser) c.1226A>G (p.Asn409Ser) n.3267A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267238A>T | CA382543577 | ATM | c.2534A>T (p.Asn845Ile) c.*2005A>T (n.*2005A>T) n.2668A>T n.2684A>T n.2029A>T c.*1469A>T (n.*1469A>T) c.2369A>T (p.Asn790Ile) c.1490A>T (p.Asn497Ile) c.1226A>T (p.Asn409Ile) n.3267A>T | dbSNP |
| 11 | g.108267239T>A | CA382543581 | ATM | c.2535T>A (p.Asn845Lys) c.*2006T>A (n.*2006T>A) n.2669T>A n.2685T>A n.2030T>A c.*1470T>A (n.*1470T>A) c.2370T>A (p.Asn790Lys) c.1491T>A (p.Asn497Lys) c.1227T>A (p.Asn409Lys) n.3268T>A | dbSNP |
| 11 | g.108267239T>C | CA476673555 | ATM | c.2535T>C (p.Asn845=) c.*2006T>C (n.*2006T>C) n.2669T>C n.2685T>C n.2030T>C c.*1470T>C (n.*1470T>C) c.2370T>C (p.Asn790=) c.1491T>C (p.Asn497=) c.1227T>C (p.Asn409=) n.3268T>C | |
| 11 | g.108267239T>G | CA382543582 | ATM | c.2535T>G (p.Asn845Lys) c.*2006T>G (n.*2006T>G) n.2669T>G n.2685T>G n.2030T>G c.*1470T>G (n.*1470T>G) c.2370T>G (p.Asn790Lys) c.1491T>G (p.Asn497Lys) c.1227T>G (p.Asn409Lys) n.3268T>G | |
| 11 | g.108267240C>A | CA382543584 | ATM | c.2536C>A (p.Leu846Ile) c.*2007C>A (n.*2007C>A) n.2670C>A n.2686C>A n.2031C>A c.*1471C>A (n.*1471C>A) c.2371C>A (p.Leu791Ile) c.1492C>A (p.Leu498Ile) c.1228C>A (p.Leu410Ile) n.3269C>A | dbSNP gnomAD v4 |
| 11 | g.108267240C= | CA1998783252 | ATM | c.2536C= (p.Leu846=) c.*2007C= (n.*2007C=) n.2670C= n.2686C= n.2031C= c.*1471C= (n.*1471C=) c.2371C= (p.Leu791=) c.1492C= (p.Leu498=) c.1228C= (p.Leu410=) n.3269C= | |
| 11 | g.108267240C>G | CA382543586 | ATM | c.2536C>G (p.Leu846Val) c.*2007C>G (n.*2007C>G) n.2670C>G n.2686C>G n.2031C>G c.*1471C>G (n.*1471C>G) c.2371C>G (p.Leu791Val) c.1492C>G (p.Leu498Val) c.1228C>G (p.Leu410Val) n.3269C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267240C>T | CA476673556 | ATM | c.2536C>T (p.Leu846=) c.*2007C>T (n.*2007C>T) n.2670C>T n.2686C>T n.2031C>T c.*1471C>T (n.*1471C>T) c.2371C>T (p.Leu791=) c.1492C>T (p.Leu498=) c.1228C>T (p.Leu410=) n.3269C>T | dbSNP |
| 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= |