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.108267214C>A | CA382543388 | ATM | c.2510C>A (p.Ser837Ter) c.*1981C>A (n.*1981C>A) n.2644C>A n.2660C>A n.2005C>A c.*1445C>A (n.*1445C>A) c.2345C>A (p.Ser782Ter) c.1466C>A (p.Ser489Ter) c.1202C>A (p.Ser401Ter) n.3243C>A | |
| 11 | g.108267214C= | CA1998783231 | ATM | c.2510C= (p.Ser837=) c.*1981C= (n.*1981C=) n.2644C= n.2660C= n.2005C= c.*1445C= (n.*1445C=) c.2345C= (p.Ser782=) c.1466C= (p.Ser489=) c.1202C= (p.Ser401=) n.3243C= | |
| 11 | g.108267214C>G | CA382543392 | ATM | c.2510C>G (p.Ser837Ter) c.*1981C>G (n.*1981C>G) n.2644C>G n.2660C>G n.2005C>G c.*1445C>G (n.*1445C>G) c.2345C>G (p.Ser782Ter) c.1466C>G (p.Ser489Ter) c.1202C>G (p.Ser401Ter) n.3243C>G | ClinVar dbSNP |
| 11 | g.108267214C>T | CA382543393 | ATM | c.2510C>T (p.Ser837Leu) c.*1981C>T (n.*1981C>T) n.2644C>T n.2660C>T n.2005C>T c.*1445C>T (n.*1445C>T) c.2345C>T (p.Ser782Leu) c.1466C>T (p.Ser489Leu) c.1202C>T (p.Ser401Leu) n.3243C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108267215A>C | CA476673547 | ATM | c.2511A>C (p.Ser837=) c.*1982A>C (n.*1982A>C) n.2645A>C n.2661A>C n.2006A>C c.*1446A>C (n.*1446A>C) c.2346A>C (p.Ser782=) c.1467A>C (p.Ser489=) c.1203A>C (p.Ser401=) n.3244A>C | |
| 11 | g.108267215A>G | CA476673546 | ATM | c.2511A>G (p.Ser837=) c.*1982A>G (n.*1982A>G) n.2645A>G n.2661A>G n.2006A>G c.*1446A>G (n.*1446A>G) c.2346A>G (p.Ser782=) c.1467A>G (p.Ser489=) c.1203A>G (p.Ser401=) n.3244A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267215A>T | CA476673545 | ATM | c.2511A>T (p.Ser837=) c.*1982A>T (n.*1982A>T) n.2645A>T n.2661A>T n.2006A>T c.*1446A>T (n.*1446A>T) c.2346A>T (p.Ser782=) c.1467A>T (p.Ser489=) c.1203A>T (p.Ser401=) n.3244A>T | dbSNP |
| 11 | g.108267216A= | CA1998783232 | ATM | c.2512A= (p.Met838=) c.*1983A= (n.*1983A=) n.2646A= n.2662A= n.2007A= c.*1447A= (n.*1447A=) c.2347A= (p.Met783=) c.1468A= (p.Met490=) c.1204A= (p.Met402=) n.3245A= | |
| 11 | g.108267216A>C | CA382543395 | ATM | c.2512A>C (p.Met838Leu) c.*1983A>C (n.*1983A>C) n.2646A>C n.2662A>C n.2007A>C c.*1447A>C (n.*1447A>C) c.2347A>C (p.Met783Leu) c.1468A>C (p.Met490Leu) c.1204A>C (p.Met402Leu) n.3245A>C | |
| 11 | g.108267216A>G | CA382543398 | ATM | c.2512A>G (p.Met838Val) c.*1983A>G (n.*1983A>G) n.2646A>G n.2662A>G n.2007A>G c.*1447A>G (n.*1447A>G) c.2347A>G (p.Met783Val) c.1468A>G (p.Met490Val) c.1204A>G (p.Met402Val) n.3245A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267216A>T | CA382543401 | ATM | c.2512A>T (p.Met838Leu) c.*1983A>T (n.*1983A>T) n.2646A>T n.2662A>T n.2007A>T c.*1447A>T (n.*1447A>T) c.2347A>T (p.Met783Leu) c.1468A>T (p.Met490Leu) c.1204A>T (p.Met402Leu) n.3245A>T | |
| 11 | g.108267217T>A | CA382543404 | ATM | c.2513T>A (p.Met838Lys) c.*1984T>A (n.*1984T>A) n.2647T>A n.2663T>A n.2008T>A c.*1448T>A (n.*1448T>A) c.2348T>A (p.Met783Lys) c.1469T>A (p.Met490Lys) c.1205T>A (p.Met402Lys) n.3246T>A | dbSNP |
| 11 | g.108267217T>C | CA382543408 | ATM | c.2513T>C (p.Met838Thr) c.*1984T>C (n.*1984T>C) n.2647T>C n.2663T>C n.2008T>C c.*1448T>C (n.*1448T>C) c.2348T>C (p.Met783Thr) c.1469T>C (p.Met490Thr) c.1205T>C (p.Met402Thr) n.3246T>C | dbSNP |
| 11 | g.108267217T>G | CA382543407 | ATM | c.2513T>G (p.Met838Arg) c.*1984T>G (n.*1984T>G) n.2647T>G n.2663T>G n.2008T>G c.*1448T>G (n.*1448T>G) c.2348T>G (p.Met783Arg) c.1469T>G (p.Met490Arg) c.1205T>G (p.Met402Arg) n.3246T>G | ClinVar |
| 11 | g.108267218G>A | CA382543412 | ATM | c.2514G>A (p.Met838Ile) c.*1985G>A (n.*1985G>A) n.2648G>A n.2664G>A n.2009G>A c.*1449G>A (n.*1449G>A) c.2349G>A (p.Met783Ile) c.1470G>A (p.Met490Ile) c.1206G>A (p.Met402Ile) n.3247G>A | dbSNP |
| 11 | g.108267218G>C | CA382543414 | ATM | c.2514G>C (p.Met838Ile) c.*1985G>C (n.*1985G>C) n.2648G>C n.2664G>C n.2009G>C c.*1449G>C (n.*1449G>C) c.2349G>C (p.Met783Ile) c.1470G>C (p.Met490Ile) c.1206G>C (p.Met402Ile) n.3247G>C | dbSNP |
| 11 | g.108267218G>T | CA382543416 | ATM | c.2514G>T (p.Met838Ile) c.*1985G>T (n.*1985G>T) n.2648G>T n.2664G>T n.2009G>T c.*1449G>T (n.*1449G>T) c.2349G>T (p.Met783Ile) c.1470G>T (p.Met490Ile) c.1206G>T (p.Met402Ile) n.3247G>T | ClinVar dbSNP |
| 11 | g.108267219G>A | CA382543432 | ATM | c.2515G>A (p.Glu839Lys) c.*1986G>A (n.*1986G>A) n.2649G>A n.2665G>A n.2010G>A c.*1450G>A (n.*1450G>A) c.2350G>A (p.Glu784Lys) c.1471G>A (p.Glu491Lys) c.1207G>A (p.Glu403Lys) n.3248G>A | ClinVar dbSNP |
| 11 | g.108267219G>C | CA382543433 | ATM | c.2515G>C (p.Glu839Gln) c.*1986G>C (n.*1986G>C) n.2649G>C n.2665G>C n.2010G>C c.*1450G>C (n.*1450G>C) c.2350G>C (p.Glu784Gln) c.1471G>C (p.Glu491Gln) c.1207G>C (p.Glu403Gln) n.3248G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108267219G= | CA1998783233 | ATM | c.2515G= (p.Glu839=) c.*1986G= (n.*1986G=) n.2649G= n.2665G= n.2010G= c.*1450G= (n.*1450G=) c.2350G= (p.Glu784=) c.1471G= (p.Glu491=) c.1207G= (p.Glu403=) n.3248G= | |
| 11 | g.108267219G>T | CA382543434 | ATM | c.2515G>T (p.Glu839Ter) c.*1986G>T (n.*1986G>T) n.2649G>T n.2665G>T n.2010G>T c.*1450G>T (n.*1450G>T) c.2350G>T (p.Glu784Ter) c.1471G>T (p.Glu491Ter) c.1207G>T (p.Glu403Ter) n.3248G>T | dbSNP |
| 11 | g.108267220A= | CA1998783234 | ATM | c.2516A= (p.Glu839=) c.*1987A= (n.*1987A=) n.2650A= n.2666A= n.2011A= c.*1451A= (n.*1451A=) c.2351A= (p.Glu784=) c.1472A= (p.Glu491=) c.1208A= (p.Glu403=) n.3249A= | |
| 11 | g.108267220A>C | CA382543435 | ATM | c.2516A>C (p.Glu839Ala) c.*1987A>C (n.*1987A>C) n.2650A>C n.2666A>C n.2011A>C c.*1451A>C (n.*1451A>C) c.2351A>C (p.Glu784Ala) c.1472A>C (p.Glu491Ala) c.1208A>C (p.Glu403Ala) n.3249A>C | ClinVar dbSNP |
| 11 | g.108267220A>G | CA382543436 | ATM | c.2516A>G (p.Glu839Gly) c.*1987A>G (n.*1987A>G) n.2650A>G n.2666A>G n.2011A>G c.*1451A>G (n.*1451A>G) c.2351A>G (p.Glu784Gly) c.1472A>G (p.Glu491Gly) c.1208A>G (p.Glu403Gly) n.3249A>G | ClinVar dbSNP |
| 11 | g.108267220A>T | CA382543437 | ATM | c.2516A>T (p.Glu839Val) c.*1987A>T (n.*1987A>T) n.2650A>T n.2666A>T n.2011A>T c.*1451A>T (n.*1451A>T) c.2351A>T (p.Glu784Val) c.1472A>T (p.Glu491Val) c.1208A>T (p.Glu403Val) n.3249A>T | dbSNP |
| 11 | g.108267221A= | CA1998783235 | ATM | c.2517A= (p.Glu839=) c.*1988A= (n.*1988A=) n.2651A= n.2667A= n.2012A= c.*1452A= (n.*1452A=) c.2352A= (p.Glu784=) c.1473A= (p.Glu491=) c.1209A= (p.Glu403=) n.3250A= | |
| 11 | g.108267221A>C | CA382543440 | ATM | c.2517A>C (p.Glu839Asp) c.*1988A>C (n.*1988A>C) n.2651A>C n.2667A>C n.2012A>C c.*1452A>C (n.*1452A>C) c.2352A>C (p.Glu784Asp) c.1473A>C (p.Glu491Asp) c.1209A>C (p.Glu403Asp) n.3250A>C | |
| 11 | g.108267221A>G | CA476673548 | ATM | c.2517A>G (p.Glu839=) c.*1988A>G (n.*1988A>G) n.2651A>G n.2667A>G n.2012A>G c.*1452A>G (n.*1452A>G) c.2352A>G (p.Glu784=) c.1473A>G (p.Glu491=) c.1209A>G (p.Glu403=) n.3250A>G | ClinVar dbSNP |
| 11 | g.108267221A>T | CA16613101 | ATM | c.2517A>T (p.Glu839Asp) c.*1988A>T (n.*1988A>T) n.2651A>T n.2667A>T n.2012A>T c.*1452A>T (n.*1452A>T) c.2352A>T (p.Glu784Asp) c.1473A>T (p.Glu491Asp) c.1209A>T (p.Glu403Asp) n.3250A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108267222G>A | CA382543448 | ATM | c.2518G>A (p.Asp840Asn) c.*1989G>A (n.*1989G>A) n.2652G>A n.2668G>A n.2013G>A c.*1453G>A (n.*1453G>A) c.2353G>A (p.Asp785Asn) c.1474G>A (p.Asp492Asn) c.1210G>A (p.Asp404Asn) n.3251G>A | ClinVar dbSNP |
| 11 | g.108267222G>C | CA382543453 | ATM | c.2518G>C (p.Asp840His) c.*1989G>C (n.*1989G>C) n.2652G>C n.2668G>C n.2013G>C c.*1453G>C (n.*1453G>C) c.2353G>C (p.Asp785His) c.1474G>C (p.Asp492His) c.1210G>C (p.Asp404His) n.3251G>C | ClinVar dbSNP |
| 11 | g.108267222G= | CA1998783236 | ATM | c.2518G= (p.Asp840=) c.*1989G= (n.*1989G=) n.2652G= n.2668G= n.2013G= c.*1453G= (n.*1453G=) c.2353G= (p.Asp785=) c.1474G= (p.Asp492=) c.1210G= (p.Asp404=) n.3251G= | |
| 11 | g.108267222G>T | CA228406321 | ATM | c.2518G>T (p.Asp840Tyr) c.*1989G>T (n.*1989G>T) n.2652G>T n.2668G>T n.2013G>T c.*1453G>T (n.*1453G>T) c.2353G>T (p.Asp785Tyr) c.1474G>T (p.Asp492Tyr) c.1210G>T (p.Asp404Tyr) n.3251G>T | dbSNP |
| 11 | g.108267223A= | CA1998783237 | ATM | c.2519A= (p.Asp840=) c.*1990A= (n.*1990A=) n.2653A= n.2669A= n.2014A= c.*1454A= (n.*1454A=) c.2354A= (p.Asp785=) c.1475A= (p.Asp492=) c.1211A= (p.Asp404=) n.3252A= | |
| 11 | g.108267223A>C | CA382543461 | ATM | c.2519A>C (p.Asp840Ala) c.*1990A>C (n.*1990A>C) n.2653A>C n.2669A>C n.2014A>C c.*1454A>C (n.*1454A>C) c.2354A>C (p.Asp785Ala) c.1475A>C (p.Asp492Ala) c.1211A>C (p.Asp404Ala) n.3252A>C | |
| 11 | g.108267223A>G | CA382543463 | ATM | c.2519A>G (p.Asp840Gly) c.*1990A>G (n.*1990A>G) n.2653A>G n.2669A>G n.2014A>G c.*1454A>G (n.*1454A>G) c.2354A>G (p.Asp785Gly) c.1475A>G (p.Asp492Gly) c.1211A>G (p.Asp404Gly) n.3252A>G | ClinVar dbSNP |
| 11 | g.108267223A>T | CA193546 | ATM | c.2519A>T (p.Asp840Val) c.*1990A>T (n.*1990A>T) n.2653A>T n.2669A>T n.2014A>T c.*1454A>T (n.*1454A>T) c.2354A>T (p.Asp785Val) c.1475A>T (p.Asp492Val) c.1211A>T (p.Asp404Val) n.3252A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267224T>A | CA382543474 | ATM | c.2520T>A (p.Asp840Glu) c.*1991T>A (n.*1991T>A) n.2654T>A n.2670T>A n.2015T>A c.*1455T>A (n.*1455T>A) c.2355T>A (p.Asp785Glu) c.1476T>A (p.Asp492Glu) c.1212T>A (p.Asp404Glu) n.3253T>A | dbSNP |
| 11 | g.108267224T>C | CA476673549 | ATM | c.2520T>C (p.Asp840=) c.*1991T>C (n.*1991T>C) n.2654T>C n.2670T>C n.2015T>C c.*1455T>C (n.*1455T>C) c.2355T>C (p.Asp785=) c.1476T>C (p.Asp492=) c.1212T>C (p.Asp404=) n.3253T>C | ClinVar dbSNP |
| 11 | g.108267224T>G | CA382543476 | ATM | c.2520T>G (p.Asp840Glu) c.*1991T>G (n.*1991T>G) n.2654T>G n.2670T>G n.2015T>G c.*1455T>G (n.*1455T>G) c.2355T>G (p.Asp785Glu) c.1476T>G (p.Asp492Glu) c.1212T>G (p.Asp404Glu) n.3253T>G | ClinVar dbSNP |
| 11 | g.108267224T= | CA1998783238 | ATM | c.2520T= (p.Asp840=) c.*1991T= (n.*1991T=) n.2654T= n.2670T= n.2015T= c.*1455T= (n.*1455T=) c.2355T= (p.Asp785=) c.1476T= (p.Asp492=) c.1212T= (p.Asp404=) n.3253T= | |
| 11 | g.108267224_108267225delinsTG | CA1998783239 | ATM | c.2520_2521delinsTG (p.Asp840=) c.*1991_*1992delinsTG (n.*1991_*1992delinsTG) n.2654_2655delinsTG n.2670_2671delinsTG n.2015_2016delinsTG c.*1455_*1456delinsTG (n.*1455_*1456delinsTG) c.2355_2356delinsTG (p.Asp785=) c.1476_1477delinsTG (p.Asp492=) c.1212_1213delinsTG (p.Asp404=) n.3253_3254delinsTG | |
| 11 | g.108267225del | CA16622059 | ATM | c.2521del (p.Asp841IlefsTer6) c.*1992del (n.*1992del) n.2655del n.2671del n.2016del c.*1456del (n.*1456del) c.2356del (p.Asp786IlefsTer6) c.1477del (p.Asp493IlefsTer6) c.1213del (p.Asp405IlefsTer6) n.3254del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267225G>A | CA382543479 | ATM | c.2521G>A (p.Asp841Asn) c.*1992G>A (n.*1992G>A) n.2655G>A n.2671G>A n.2016G>A c.*1456G>A (n.*1456G>A) c.2356G>A (p.Asp786Asn) c.1477G>A (p.Asp493Asn) c.1213G>A (p.Asp405Asn) n.3254G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.108267225G>C | CA382543482 | ATM | c.2521G>C (p.Asp841His) c.*1992G>C (n.*1992G>C) n.2655G>C n.2671G>C n.2016G>C c.*1456G>C (n.*1456G>C) c.2356G>C (p.Asp786His) c.1477G>C (p.Asp493His) c.1213G>C (p.Asp405His) n.3254G>C | dbSNP |
| 11 | g.108267225G>T | CA382543489 | ATM | c.2521G>T (p.Asp841Tyr) c.*1992G>T (n.*1992G>T) n.2655G>T n.2671G>T n.2016G>T c.*1456G>T (n.*1456G>T) c.2356G>T (p.Asp786Tyr) c.1477G>T (p.Asp493Tyr) c.1213G>T (p.Asp405Tyr) n.3254G>T | COSMIC COSMIC |
| 11 | g.108267226A= | CA1998783240 | ATM | c.2522A= (p.Asp841=) c.*1993A= (n.*1993A=) n.2656A= n.2672A= n.2017A= c.*1457A= (n.*1457A=) c.2357A= (p.Asp786=) c.1478A= (p.Asp493=) c.1214A= (p.Asp405=) n.3255A= | |
| 11 | g.108267226A>C | CA189280 | ATM | c.2522A>C (p.Asp841Ala) c.*1993A>C (n.*1993A>C) n.2656A>C n.2672A>C n.2017A>C c.*1457A>C (n.*1457A>C) c.2357A>C (p.Asp786Ala) c.1478A>C (p.Asp493Ala) c.1214A>C (p.Asp405Ala) n.3255A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267226A>G | CA165667 | ATM | c.2522A>G (p.Asp841Gly) c.*1993A>G (n.*1993A>G) n.2656A>G n.2672A>G n.2017A>G c.*1457A>G (n.*1457A>G) c.2357A>G (p.Asp786Gly) c.1478A>G (p.Asp493Gly) c.1214A>G (p.Asp405Gly) n.3255A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267226A>T | CA382543492 | ATM | c.2522A>T (p.Asp841Val) c.*1993A>T (n.*1993A>T) n.2656A>T n.2672A>T n.2017A>T c.*1457A>T (n.*1457A>T) c.2357A>T (p.Asp786Val) c.1478A>T (p.Asp493Val) c.1214A>T (p.Asp405Val) n.3255A>T | ClinVar dbSNP |