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.108272536C>A | CA382515003 | ATM | c.3082C>A (p.Leu1028Ile) c.*2553C>A (n.*2553C>A) n.3232C>A c.2917C>A (p.Leu973Ile) c.2038C>A (p.Leu680Ile) c.1774C>A (p.Leu592Ile) n.3815C>A | dbSNP |
| 11 | g.108272536C= | CA1998776509 | ATM | c.3082C= (p.Leu1028=) c.*2553C= (n.*2553C=) n.3232C= c.2917C= (p.Leu973=) c.2038C= (p.Leu680=) c.1774C= (p.Leu592=) n.3815C= | |
| 11 | g.108272536C>G | CA382515005 | ATM | c.3082C>G (p.Leu1028Val) c.*2553C>G (n.*2553C>G) n.3232C>G c.2917C>G (p.Leu973Val) c.2038C>G (p.Leu680Val) c.1774C>G (p.Leu592Val) n.3815C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108272536C>T | CA476744736 | ATM | c.3082C>T (p.Leu1028=) c.*2553C>T (n.*2553C>T) n.3232C>T c.2917C>T (p.Leu973=) c.2038C>T (p.Leu680=) c.1774C>T (p.Leu592=) n.3815C>T | dbSNP gnomAD v4 |
| 11 | g.108272537T>A | CA382515012 | ATM | c.3083T>A (p.Leu1028Gln) c.*2554T>A (n.*2554T>A) n.3233T>A c.2918T>A (p.Leu973Gln) c.2039T>A (p.Leu680Gln) c.1775T>A (p.Leu592Gln) n.3816T>A | ClinVar dbSNP |
| 11 | g.108272537T>C | CA382515008 | ATM | c.3083T>C (p.Leu1028Pro) c.*2554T>C (n.*2554T>C) n.3233T>C c.2918T>C (p.Leu973Pro) c.2039T>C (p.Leu680Pro) c.1775T>C (p.Leu592Pro) n.3816T>C | ClinVar dbSNP |
| 11 | g.108272537T>G | CA382515010 | ATM | c.3083T>G (p.Leu1028Arg) c.*2554T>G (n.*2554T>G) n.3233T>G c.2918T>G (p.Leu973Arg) c.2039T>G (p.Leu680Arg) c.1775T>G (p.Leu592Arg) n.3816T>G | ClinVar dbSNP |
| 11 | g.108272537T= | CA1998776518 | ATM | c.3083T= (p.Leu1028=) c.*2554T= (n.*2554T=) n.3233T= c.2918T= (p.Leu973=) c.2039T= (p.Leu680=) c.1775T= (p.Leu592=) n.3816T= | |
| 11 | g.108272538A= | CA1998776530 | ATM | c.3084A= (p.Leu1028=) c.*2555A= (n.*2555A=) n.3234A= c.2919A= (p.Leu973=) c.2040A= (p.Leu680=) c.1776A= (p.Leu592=) n.3817A= | |
| 11 | g.108272538A>C | CA476744738 | ATM | c.3084A>C (p.Leu1028=) c.*2555A>C (n.*2555A>C) n.3234A>C c.2919A>C (p.Leu973=) c.2040A>C (p.Leu680=) c.1776A>C (p.Leu592=) n.3817A>C | ClinVar dbSNP |
| 11 | g.108272538A>G | CA476744740 | ATM | c.3084A>G (p.Leu1028=) c.*2555A>G (n.*2555A>G) n.3234A>G c.2919A>G (p.Leu973=) c.2040A>G (p.Leu680=) c.1776A>G (p.Leu592=) n.3817A>G | ClinVar dbSNP |
| 11 | g.108272538A>T | CA476744742 | ATM | c.3084A>T (p.Leu1028=) c.*2555A>T (n.*2555A>T) n.3234A>T c.2919A>T (p.Leu973=) c.2040A>T (p.Leu680=) c.1776A>T (p.Leu592=) n.3817A>T | dbSNP |
| 11 | g.108272539dup | CA10579083 | ATM | c.3085dup (p.Thr1029AsnfsTer19) c.*2556dup (n.*2556dup) n.3235dup c.2920dup (p.Thr974AsnfsTer19) c.2041dup (p.Thr681AsnfsTer19) c.1777dup (p.Thr593AsnfsTer19) n.3818dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108272539del | CA2695215250 | ATM | c.3085del (p.Thr1029GlnfsTer10) c.*2556del (n.*2556del) n.3235del c.2920del (p.Thr974GlnfsTer10) c.2041del (p.Thr681GlnfsTer10) c.1777del (p.Thr593GlnfsTer10) n.3818del | |
| 11 | g.108272539A= | CA1998776532 | ATM | c.3085A= (p.Thr1029=) c.*2556A= (n.*2556A=) n.3235A= c.2920A= (p.Thr974=) c.2041A= (p.Thr681=) c.1777A= (p.Thr593=) n.3818A= | |
| 11 | g.108272539A>C | CA382515014 | ATM | c.3085A>C (p.Thr1029Pro) c.*2556A>C (n.*2556A>C) n.3235A>C c.2920A>C (p.Thr974Pro) c.2041A>C (p.Thr681Pro) c.1777A>C (p.Thr593Pro) n.3818A>C | |
| 11 | g.108272539A>G | CA382515016 | ATM | c.3085A>G (p.Thr1029Ala) c.*2556A>G (n.*2556A>G) n.3235A>G c.2920A>G (p.Thr974Ala) c.2041A>G (p.Thr681Ala) c.1777A>G (p.Thr593Ala) n.3818A>G | dbSNP |
| 11 | g.108272539A>T | CA298194 | ATM | c.3085A>T (p.Thr1029Ser) c.*2556A>T (n.*2556A>T) n.3235A>T c.2920A>T (p.Thr974Ser) c.2041A>T (p.Thr681Ser) c.1777A>T (p.Thr593Ser) n.3818A>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108272540del | CA2695215251 | ATM | c.3086del (p.Thr1029LysfsTer10) c.*2557del (n.*2557del) n.3236del c.2921del (p.Thr974LysfsTer10) c.2042del (p.Thr681LysfsTer10) c.1778del (p.Thr593LysfsTer10) n.3819del | |
| 11 | g.108272540C>A | CA382515020 | ATM | c.3086C>A (p.Thr1029Lys) c.*2557C>A (n.*2557C>A) n.3236C>A c.2921C>A (p.Thr974Lys) c.2042C>A (p.Thr681Lys) c.1778C>A (p.Thr593Lys) n.3819C>A | |
| 11 | g.108272540C= | CA1998776538 | ATM | c.3086C= (p.Thr1029=) c.*2557C= (n.*2557C=) n.3236C= c.2921C= (p.Thr974=) c.2042C= (p.Thr681=) c.1778C= (p.Thr593=) n.3819C= | |
| 11 | g.108272540C>G | CA382515022 | ATM | c.3086C>G (p.Thr1029Arg) c.*2557C>G (n.*2557C>G) n.3236C>G c.2921C>G (p.Thr974Arg) c.2042C>G (p.Thr681Arg) c.1778C>G (p.Thr593Arg) n.3819C>G | dbSNP |
| 11 | g.108272540C>T | CA382515025 | ATM | c.3086C>T (p.Thr1029Ile) c.*2557C>T (n.*2557C>T) n.3236C>T c.2921C>T (p.Thr974Ile) c.2042C>T (p.Thr681Ile) c.1778C>T (p.Thr593Ile) n.3819C>T | ClinVar dbSNP |
| 11 | g.108272540_108272544del | CA2573146617 | ATM | c.3086_3090del (p.Thr1029ArgfsTer17) c.*2557_*2561del (n.*2557_*2561del) n.3236_3240del c.2921_2925del (p.Thr974ArgfsTer17) c.2042_2046del (p.Thr681ArgfsTer17) c.1778_1782del (p.Thr593ArgfsTer17) n.3819_3823del | ClinVar dbSNP |
| 11 | g.108272541A= | CA1998776540 | ATM | c.3087A= (p.Thr1029=) c.*2558A= (n.*2558A=) n.3237A= c.2922A= (p.Thr974=) c.2043A= (p.Thr681=) c.1779A= (p.Thr593=) n.3820A= | |
| 11 | g.108272541A>C | CA476744744 | ATM | c.3087A>C (p.Thr1029=) c.*2558A>C (n.*2558A>C) n.3237A>C c.2922A>C (p.Thr974=) c.2043A>C (p.Thr681=) c.1779A>C (p.Thr593=) n.3820A>C | ClinVar dbSNP |
| 11 | g.108272541A>G | CA476744745 | ATM | c.3087A>G (p.Thr1029=) c.*2558A>G (n.*2558A>G) n.3237A>G c.2922A>G (p.Thr974=) c.2043A>G (p.Thr681=) c.1779A>G (p.Thr593=) n.3820A>G | ClinVar dbSNP |
| 11 | g.108272541A>T | CA476744746 | ATM | c.3087A>T (p.Thr1029=) c.*2558A>T (n.*2558A>T) n.3237A>T c.2922A>T (p.Thr974=) c.2043A>T (p.Thr681=) c.1779A>T (p.Thr593=) n.3820A>T | |
| 11 | g.108272542A= | CA1998776552 | ATM | c.3088A= (p.Lys1030=) c.*2559A= (n.*2559A=) n.3238A= c.2923A= (p.Lys975=) c.2044A= (p.Lys682=) c.1780A= (p.Lys594=) n.3821A= | |
| 11 | g.108272542A>C | CA382515028 | ATM | c.3088A>C (p.Lys1030Gln) c.*2559A>C (n.*2559A>C) n.3238A>C c.2923A>C (p.Lys975Gln) c.2044A>C (p.Lys682Gln) c.1780A>C (p.Lys594Gln) n.3821A>C | |
| 11 | g.108272542A>G | CA337015 | ATM | c.3088A>G (p.Lys1030Glu) c.*2559A>G (n.*2559A>G) n.3238A>G c.2923A>G (p.Lys975Glu) c.2044A>G (p.Lys682Glu) c.1780A>G (p.Lys594Glu) n.3821A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108272542A>T | CA382515031 | ATM | c.3088A>T (p.Lys1030Ter) c.*2559A>T (n.*2559A>T) n.3238A>T c.2923A>T (p.Lys975Ter) c.2044A>T (p.Lys682Ter) c.1780A>T (p.Lys594Ter) n.3821A>T | dbSNP |
| 11 | g.108272543A= | CA1998776556 | ATM | c.3089A= (p.Lys1030=) c.*2560A= (n.*2560A=) n.3239A= c.2924A= (p.Lys975=) c.2045A= (p.Lys682=) c.1781A= (p.Lys594=) n.3822A= | |
| 11 | g.108272543A>C | CA382515035 | ATM | c.3089A>C (p.Lys1030Thr) c.*2560A>C (n.*2560A>C) n.3239A>C c.2924A>C (p.Lys975Thr) c.2045A>C (p.Lys682Thr) c.1781A>C (p.Lys594Thr) n.3822A>C | |
| 11 | g.108272543A>G | CA382515037 | ATM | c.3089A>G (p.Lys1030Arg) c.*2560A>G (n.*2560A>G) n.3239A>G c.2924A>G (p.Lys975Arg) c.2045A>G (p.Lys682Arg) c.1781A>G (p.Lys594Arg) n.3822A>G | ClinVar dbSNP |
| 11 | g.108272543A>T | CA382515039 | ATM | c.3089A>T (p.Lys1030Met) c.*2560A>T (n.*2560A>T) n.3239A>T c.2924A>T (p.Lys975Met) c.2045A>T (p.Lys682Met) c.1781A>T (p.Lys594Met) n.3822A>T | |
| 11 | g.108272544G>A | CA476744748 | ATM | c.3090G>A (p.Lys1030=) c.*2561G>A (n.*2561G>A) n.3240G>A c.2925G>A (p.Lys975=) c.2046G>A (p.Lys682=) c.1782G>A (p.Lys594=) n.3823G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108272544G>C | CA382515043 | ATM | c.3090G>C (p.Lys1030Asn) c.*2561G>C (n.*2561G>C) n.3240G>C c.2925G>C (p.Lys975Asn) c.2046G>C (p.Lys682Asn) c.1782G>C (p.Lys594Asn) n.3823G>C | dbSNP |
| 11 | g.108272544G= | CA1998776561 | ATM | c.3090G= (p.Lys1030=) c.*2561G= (n.*2561G=) n.3240G= c.2925G= (p.Lys975=) c.2046G= (p.Lys682=) c.1782G= (p.Lys594=) n.3823G= | |
| 11 | g.108272544G>T | CA382515045 | ATM | c.3090G>T (p.Lys1030Asn) c.*2561G>T (n.*2561G>T) n.3240G>T c.2925G>T (p.Lys975Asn) c.2046G>T (p.Lys682Asn) c.1782G>T (p.Lys594Asn) n.3823G>T | dbSNP |
| 11 | g.108272545del | CA2573146623 | ATM | c.3091del (p.Glu1031ArgfsTer8) c.*2562del (n.*2562del) n.3241del c.2926del (p.Glu976ArgfsTer8) c.2047del (p.Glu683ArgfsTer8) c.1783del (p.Glu595ArgfsTer8) n.3824del | ClinVar dbSNP |
| 11 | g.108272545G>A | CA382515048 | ATM | c.3091G>A (p.Glu1031Lys) c.*2562G>A (n.*2562G>A) n.3241G>A c.2926G>A (p.Glu976Lys) c.2047G>A (p.Glu683Lys) c.1783G>A (p.Glu595Lys) n.3824G>A | dbSNP |
| 11 | g.108272545G>C | CA382515052 | ATM | c.3091G>C (p.Glu1031Gln) c.*2562G>C (n.*2562G>C) n.3241G>C c.2926G>C (p.Glu976Gln) c.2047G>C (p.Glu683Gln) c.1783G>C (p.Glu595Gln) n.3824G>C | dbSNP |
| 11 | g.108272545G>T | CA382515049 | ATM | c.3091G>T (p.Glu1031Ter) c.*2562G>T (n.*2562G>T) n.3241G>T c.2926G>T (p.Glu976Ter) c.2047G>T (p.Glu683Ter) c.1783G>T (p.Glu595Ter) n.3824G>T | dbSNP |
| 11 | g.108272546A= | CA1998776569 | ATM | c.3092A= (p.Glu1031=) c.*2563A= (n.*2563A=) n.3242A= c.2927A= (p.Glu976=) c.2048A= (p.Glu683=) c.1784A= (p.Glu595=) n.3825A= | |
| 11 | g.108272546A>C | CA382515056 | ATM | c.3092A>C (p.Glu1031Ala) c.*2563A>C (n.*2563A>C) n.3242A>C c.2927A>C (p.Glu976Ala) c.2048A>C (p.Glu683Ala) c.1784A>C (p.Glu595Ala) n.3825A>C | |
| 11 | g.108272546A>G | CA6265194 | ATM | c.3092A>G (p.Glu1031Gly) c.*2563A>G (n.*2563A>G) n.3242A>G c.2927A>G (p.Glu976Gly) c.2048A>G (p.Glu683Gly) c.1784A>G (p.Glu595Gly) n.3825A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108272546A>T | CA382515059 | ATM | c.3092A>T (p.Glu1031Val) c.*2563A>T (n.*2563A>T) n.3242A>T c.2927A>T (p.Glu976Val) c.2048A>T (p.Glu683Val) c.1784A>T (p.Glu595Val) n.3825A>T | ClinVar dbSNP |
| 11 | g.108272547G>A | CA476744749 | ATM | c.3093G>A (p.Glu1031=) c.*2564G>A (n.*2564G>A) n.3243G>A c.2928G>A (p.Glu976=) c.2049G>A (p.Glu683=) c.1785G>A (p.Glu595=) n.3826G>A | ClinVar dbSNP |
| 11 | g.108272547G>C | CA382515063 | ATM | c.3093G>C (p.Glu1031Asp) c.*2564G>C (n.*2564G>C) n.3243G>C c.2928G>C (p.Glu976Asp) c.2049G>C (p.Glu683Asp) c.1785G>C (p.Glu595Asp) n.3826G>C | dbSNP |