This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ATM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000435747.1:p.Phe336Leu
ENST00000527805.5:c.[1006T>C;1009C>A;1011...

ENST00000527805.5:c.[1006T>C;1009C>A;1011...

ENST00000527805.5:c.[1006T>C;1009C=]

ENST00000527805.5:c.[1006T>C;1010G=]

ENST00000527805.5:c.[1006T>C;1011T>A]

ENST00000527805.5:c.[1006T>C;1011T>C]

ENST00000527805.5:c.[1006T>C;1011T>G]

ENST00000527805.5:c.[1006T>C;1012A=]

ENST00000527805.5:c.[1006T>C;1014T>C]

ENST00000527805.5:c.[1006T>C;1014T=]

ENST00000527805.5:c.[1006T>C;1015A=]

ENST00000527805.5:c.[1006T>C;1015_1016del...

ENST00000527805.5:c.[1006T>C;1016T=]

ENST00000527805.5:c.[1006T>C;1017T>A]

ENST00000527805.5:c.[1006T>C;1017T>C]

ENST00000527805.5:c.[1006T>C;1017T=]

ENST00000527805.5:c.[1006T>C;1018G=]

ENST00000527805.5:c.[1006T>C;1019C=]

ENST00000527805.5:c.[1006T>C;1020C>A]

ENST00000527805.5:c.[1006T>C;1020C=]

ENST00000527805.5:c.[1006T>C;1020C>G]

ENST00000527805.5:c.[1006T>C;1020C>T]

ENST00000527805.5:c.[1006T>C;1021G=]

ENST00000527805.5:c.[1006T>C;1023C>A]

ENST00000527805.5:c.[1006T>C;1023C=]

ENST00000527805.5:c.[1006T>C;1023C>G]

ENST00000527805.5:c.[1006T>C;1023C>T]

ENST00000527805.5:c.[1006T>C;1023_1027del...

ENST00000527805.5:c.[1006T>C;1025A=]

ENST00000527805.5:c.[1006T>C;1026A>G]

ENST00000527805.5:c.[1006T>C;1029A=]

ENST00000527805.5:c.[1006T>C;1029A>G]

ENST00000527805.5:c.[1006T>C;1030A=]

ENST00000527805.5:c.[1006T>C;1032T>C]

ENST00000527805.5:c.[1006T>C;1033T>C]

ENST00000527805.5:c.[1006T>C;1035G>A]

ENST00000527805.5:c.[1006T>C;1035_1036del...

ENST00000527805.5:c.[1006T>C;1036A=]

ENST00000527805.5:c.[1006T>C;1037T=]

ENST00000527805.5:c.[1006T>C;1038T>A]

ENST00000527805.5:c.[1006T>C;1038T>C]

ENST00000527805.5:c.[1006T>C;1038T=]

ENST00000527805.5:c.[1006T>C;1039G=]

ENST00000527805.5:c.[1006T>C;1039_1040del...

ENST00000527805.5:c.[1006T>C;1040A=]

ENST00000527805.5:c.[1006T>C;1041A>G]

ENST00000527805.5:c.[1006T>C;1042T>C]

ENST00000527805.5:c.[1006T>C;1042T=]

ENST00000527805.5:c.[1006T>C;1043T=]

ENST00000527805.5:c.[1006T>C;1043_1045del...

ENST00000527805.5:c.[1006T>C;1044G>A]

ENST00000527805.5:c.[1006T>C;1044G=]

ENST00000527805.5:c.[1006T>C;1044_1052del...

ENST00000527805.5:c.[1006T>C;1046T=]

ENST00000527805.5:c.[1006T>C;1047G=]

ENST00000527805.5:c.[1006T>C;1048G=]

ENST00000527805.5:c.[1006T>C;1049C=]

ENST00000527805.5:c.[1006T>C;1050A=]

ENST00000527805.5:c.[1006T>C;1050A>C]

ENST00000527805.5:c.[1006T>C;1050A>G]

ENST00000527805.5:c.[1006T>C;1050A>T]

ENST00000527805.5:c.[1006T>C;1051G=]

ENST00000527805.5:c.[1006T>C;1052A=]

ENST00000527805.5:c.[1006T>C;1053T>C]

ENST00000527805.5:c.[1006T>C;1054A=]

ENST00000527805.5:c.[1006T>C;1054_1056del...

ENST00000527805.5:c.[1006T>C;1055T=]

ENST00000527805.5:c.[1006T>C;1056C>A]

ENST00000527805.5:c.[1006T>C;1056C=]

ENST00000527805.5:c.[1006T>C;1056C>T]

ENST00000527805.5:c.[1006T>C;1056_1058del...

ENST00000527805.5:c.[1006T>C;1058G=]

ENST00000527805.5:c.[1006T>C;1059T>C]

ENST00000527805.5:c.[1006T>C;1060C=]

ENST00000527805.5:c.[1006T>C;1062C=]

ENST00000527805.5:c.[1006T>C;1062C>T]

ENST00000527805.5:c.[1006T>C;1063C=]

ENST00000527805.5:c.[1006T>C;1064A=]

ENST00000527805.5:c.[1006T>C;1065G>A]

ENST00000527805.5:c.[1006T>C;1066G=]

ENST00000527805.5:c.[1006T>C;1066_1067del...

ENST00000527805.5:c.[1006T>C;1068T>A]

ENST00000527805.5:c.[1006T>C;1068T>C]

ENST00000527805.5:c.[1006T>C;1068T>G]

ENST00000527805.5:c.[1006T>C;1068T=]

ENST00000527805.5:c.[1006T>C;1071T>C]

ENST00000527805.5:c.[1006T>C;1071T=]

ENST00000527805.5:c.[1006T>C;1073A=]

ENST00000527805.5:c.[1006T>C;1074T>C]

ENST00000527805.5:c.[1006T>C;1075G=]

ENST00000527805.5:c.[1006T>C;1076A=]

ENST00000527805.5:c.[1006T>C;1077A>G]

ENST00000527805.5:c.[1006T>C;1078G=]

ENST00000527805.5:c.[1006T>C;1079A=]

ENST00000527805.5:c.[1006T>C;1080T>C]

ENST00000527805.5:c.[1006T>C;1080T=]

ENST00000527805.5:c.[1006T>C;1082C=]

ENST00000527805.5:c.[1006T>C;1083C>A]

ENST00000527805.5:c.[1006T>C;1083C=]

ENST00000527805.5:c.[1006T>C;1083C>G]

ENST00000527805.5:c.[1006T>C;1083C>T]

ENST00000527805.5:c.[1006T>C;1084A=]

ENST00000527805.5:c.[1006T>C;1084A>C]

ENST00000527805.5:c.[1006T>C;1086A=]

ENST00000527805.5:c.[1006T>C;1086A>G]

ENST00000527805.5:c.[1006T>C;1088C=]

ENST00000527805.5:c.[1006T>C;1089C>A]

ENST00000527805.5:c.[1006T>C;1089C=]

ENST00000527805.5:c.[1006T>C;1089C>G]

ENST00000527805.5:c.[1006T>C;1089C>T]

ENST00000527805.5:c.[1008T>A;1009C>A;1011...

ENST00000527805.5:c.[1008T>A;1009C>A;1011...

ENST00000527805.5:c.[1008T>A;1009C=]

ENST00000527805.5:c.[1008T>A;1010G=]

ENST00000527805.5:c.[1008T>A;1011T>A]

ENST00000527805.5:c.[1008T>A;1011T>C]

ENST00000527805.5:c.[1008T>A;1011T>G]

ENST00000527805.5:c.[1008T>A;1012A=]

ENST00000527805.5:c.[1008T>A;1014T>C]

ENST00000527805.5:c.[1008T>A;1014T=]

ENST00000527805.5:c.[1008T>A;1015A=]

ENST00000527805.5:c.[1008T>A;1015_1016del...

ENST00000527805.5:c.[1008T>A;1016T=]

ENST00000527805.5:c.[1008T>A;1017T>A]

ENST00000527805.5:c.[1008T>A;1017T>C]

ENST00000527805.5:c.[1008T>A;1017T=]

ENST00000527805.5:c.[1008T>A;1018G=]

ENST00000527805.5:c.[1008T>A;1019C=]

ENST00000527805.5:c.[1008T>A;1020C>A]

ENST00000527805.5:c.[1008T>A;1020C=]

ENST00000527805.5:c.[1008T>A;1020C>G]

ENST00000527805.5:c.[1008T>A;1020C>T]

ENST00000527805.5:c.[1008T>A;1021G=]

ENST00000527805.5:c.[1008T>A;1023C>A]

ENST00000527805.5:c.[1008T>A;1023C=]

ENST00000527805.5:c.[1008T>A;1023C>G]

ENST00000527805.5:c.[1008T>A;1023C>T]

ENST00000527805.5:c.[1008T>A;1023_1027del...

ENST00000527805.5:c.[1008T>A;1025A=]

ENST00000527805.5:c.[1008T>A;1026A>G]

ENST00000527805.5:c.[1008T>A;1029A=]

ENST00000527805.5:c.[1008T>A;1029A>G]

ENST00000527805.5:c.[1008T>A;1030A=]

ENST00000527805.5:c.[1008T>A;1032T>C]

ENST00000527805.5:c.[1008T>A;1033T>C]

ENST00000527805.5:c.[1008T>A;1035G>A]

ENST00000527805.5:c.[1008T>A;1035_1036del...

ENST00000527805.5:c.[1008T>A;1036A=]

ENST00000527805.5:c.[1008T>A;1037T=]

ENST00000527805.5:c.[1008T>A;1038T>A]

ENST00000527805.5:c.[1008T>A;1038T>C]

ENST00000527805.5:c.[1008T>A;1038T=]

ENST00000527805.5:c.[1008T>A;1039G=]

ENST00000527805.5:c.[1008T>A;1039_1040del...

ENST00000527805.5:c.[1008T>A;1040A=]

ENST00000527805.5:c.[1008T>A;1041A>G]

ENST00000527805.5:c.[1008T>A;1042T>C]

ENST00000527805.5:c.[1008T>A;1042T=]

ENST00000527805.5:c.[1008T>A;1043T=]

ENST00000527805.5:c.[1008T>A;1043_1045del...

ENST00000527805.5:c.[1008T>A;1044G>A]

ENST00000527805.5:c.[1008T>A;1044G=]

ENST00000527805.5:c.[1008T>A;1044_1052del...

ENST00000527805.5:c.[1008T>A;1046T=]

ENST00000527805.5:c.[1008T>A;1047G=]

ENST00000527805.5:c.[1008T>A;1048G=]

ENST00000527805.5:c.[1008T>A;1049C=]

ENST00000527805.5:c.[1008T>A;1050A=]

ENST00000527805.5:c.[1008T>A;1050A>C]

ENST00000527805.5:c.[1008T>A;1050A>G]

ENST00000527805.5:c.[1008T>A;1050A>T]

ENST00000527805.5:c.[1008T>A;1051G=]

ENST00000527805.5:c.[1008T>A;1052A=]

ENST00000527805.5:c.[1008T>A;1053T>C]

ENST00000527805.5:c.[1008T>A;1054A=]

ENST00000527805.5:c.[1008T>A;1054_1056del...

ENST00000527805.5:c.[1008T>A;1055T=]

ENST00000527805.5:c.[1008T>A;1056C>A]

ENST00000527805.5:c.[1008T>A;1056C=]

ENST00000527805.5:c.[1008T>A;1056C>T]

ENST00000527805.5:c.[1008T>A;1056_1058del...

ENST00000527805.5:c.[1008T>A;1058G=]

ENST00000527805.5:c.[1008T>A;1059T>C]

ENST00000527805.5:c.[1008T>A;1060C=]

ENST00000527805.5:c.[1008T>A;1062C=]

ENST00000527805.5:c.[1008T>A;1062C>T]

ENST00000527805.5:c.[1008T>A;1063C=]

ENST00000527805.5:c.[1008T>A;1064A=]

ENST00000527805.5:c.[1008T>A;1065G>A]

ENST00000527805.5:c.[1008T>A;1066G=]

ENST00000527805.5:c.[1008T>A;1066_1067del...

ENST00000527805.5:c.[1008T>A;1068T>A]

ENST00000527805.5:c.[1008T>A;1068T>C]

ENST00000527805.5:c.[1008T>A;1068T>G]

ENST00000527805.5:c.[1008T>A;1068T=]

ENST00000527805.5:c.[1008T>A;1071T>C]

ENST00000527805.5:c.[1008T>A;1071T=]

ENST00000527805.5:c.[1008T>A;1073A=]

ENST00000527805.5:c.[1008T>A;1074T>C]

ENST00000527805.5:c.[1008T>A;1075G=]

ENST00000527805.5:c.[1008T>A;1076A=]

ENST00000527805.5:c.[1008T>A;1077A>G]

ENST00000527805.5:c.[1008T>A;1078G=]

ENST00000527805.5:c.[1008T>A;1079A=]

ENST00000527805.5:c.[1008T>A;1080T>C]

ENST00000527805.5:c.[1008T>A;1080T=]

ENST00000527805.5:c.[1008T>A;1082C=]

ENST00000527805.5:c.[1008T>A;1083C>A]

ENST00000527805.5:c.[1008T>A;1083C=]

ENST00000527805.5:c.[1008T>A;1083C>G]

ENST00000527805.5:c.[1008T>A;1083C>T]

ENST00000527805.5:c.[1008T>A;1084A=]

ENST00000527805.5:c.[1008T>A;1084A>C]

ENST00000527805.5:c.[1008T>A;1086A=]

ENST00000527805.5:c.[1008T>A;1086A>G]

ENST00000527805.5:c.[1008T>A;1088C=]

ENST00000527805.5:c.[1008T>A;1089C>A]

ENST00000527805.5:c.[1008T>A;1089C=]

ENST00000527805.5:c.[1008T>A;1089C>G]

ENST00000527805.5:c.[1008T>A;1089C>T]

ENST00000527805.5:c.[1008T>G;1009C>A;1011...

ENST00000527805.5:c.[1008T>G;1009C>A;1011...

ENST00000527805.5:c.[1008T>G;1009C=]

ENST00000527805.5:c.[1008T>G;1010G=]

ENST00000527805.5:c.[1008T>G;1011T>A]

ENST00000527805.5:c.[1008T>G;1011T>C]

ENST00000527805.5:c.[1008T>G;1011T>G]

ENST00000527805.5:c.[1008T>G;1012A=]

ENST00000527805.5:c.[1008T>G;1014T>C]

ENST00000527805.5:c.[1008T>G;1014T=]

ENST00000527805.5:c.[1008T>G;1015A=]

ENST00000527805.5:c.[1008T>G;1015_1016del...

ENST00000527805.5:c.[1008T>G;1016T=]

ENST00000527805.5:c.[1008T>G;1017T>A]

ENST00000527805.5:c.[1008T>G;1017T>C]

ENST00000527805.5:c.[1008T>G;1017T=]

ENST00000527805.5:c.[1008T>G;1018G=]

ENST00000527805.5:c.[1008T>G;1019C=]

ENST00000527805.5:c.[1008T>G;1020C>A]

ENST00000527805.5:c.[1008T>G;1020C=]

ENST00000527805.5:c.[1008T>G;1020C>G]

ENST00000527805.5:c.[1008T>G;1020C>T]

ENST00000527805.5:c.[1008T>G;1021G=]

ENST00000527805.5:c.[1008T>G;1023C>A]

ENST00000527805.5:c.[1008T>G;1023C=]

ENST00000527805.5:c.[1008T>G;1023C>G]

ENST00000527805.5:c.[1008T>G;1023C>T]

ENST00000527805.5:c.[1008T>G;1023_1027del...

ENST00000527805.5:c.[1008T>G;1025A=]

ENST00000527805.5:c.[1008T>G;1026A>G]

ENST00000527805.5:c.[1008T>G;1029A=]

ENST00000527805.5:c.[1008T>G;1029A>G]

ENST00000527805.5:c.[1008T>G;1030A=]

ENST00000527805.5:c.[1008T>G;1032T>C]

ENST00000527805.5:c.[1008T>G;1033T>C]

ENST00000527805.5:c.[1008T>G;1035G>A]

ENST00000527805.5:c.[1008T>G;1035_1036del...

ENST00000527805.5:c.[1008T>G;1036A=]

ENST00000527805.5:c.[1008T>G;1037T=]

ENST00000527805.5:c.[1008T>G;1038T>A]

ENST00000527805.5:c.[1008T>G;1038T>C]

ENST00000527805.5:c.[1008T>G;1038T=]

ENST00000527805.5:c.[1008T>G;1039G=]

ENST00000527805.5:c.[1008T>G;1039_1040del...

ENST00000527805.5:c.[1008T>G;1040A=]

ENST00000527805.5:c.[1008T>G;1041A>G]

ENST00000527805.5:c.[1008T>G;1042T>C]

ENST00000527805.5:c.[1008T>G;1042T=]

ENST00000527805.5:c.[1008T>G;1043T=]

ENST00000527805.5:c.[1008T>G;1043_1045del...

ENST00000527805.5:c.[1008T>G;1044G>A]

ENST00000527805.5:c.[1008T>G;1044G=]

ENST00000527805.5:c.[1008T>G;1044_1052del...

ENST00000527805.5:c.[1008T>G;1046T=]

ENST00000527805.5:c.[1008T>G;1047G=]

ENST00000527805.5:c.[1008T>G;1048G=]

ENST00000527805.5:c.[1008T>G;1049C=]

ENST00000527805.5:c.[1008T>G;1050A=]

ENST00000527805.5:c.[1008T>G;1050A>C]

ENST00000527805.5:c.[1008T>G;1050A>G]

ENST00000527805.5:c.[1008T>G;1050A>T]

ENST00000527805.5:c.[1008T>G;1051G=]

ENST00000527805.5:c.[1008T>G;1052A=]

ENST00000527805.5:c.[1008T>G;1053T>C]

ENST00000527805.5:c.[1008T>G;1054A=]

ENST00000527805.5:c.[1008T>G;1054_1056del...

ENST00000527805.5:c.[1008T>G;1055T=]

ENST00000527805.5:c.[1008T>G;1056C>A]

ENST00000527805.5:c.[1008T>G;1056C=]

ENST00000527805.5:c.[1008T>G;1056C>T]

ENST00000527805.5:c.[1008T>G;1056_1058del...

ENST00000527805.5:c.[1008T>G;1058G=]

ENST00000527805.5:c.[1008T>G;1059T>C]

ENST00000527805.5:c.[1008T>G;1060C=]

ENST00000527805.5:c.[1008T>G;1062C=]

ENST00000527805.5:c.[1008T>G;1062C>T]

ENST00000527805.5:c.[1008T>G;1063C=]

ENST00000527805.5:c.[1008T>G;1064A=]

ENST00000527805.5:c.[1008T>G;1065G>A]

ENST00000527805.5:c.[1008T>G;1066G=]

ENST00000527805.5:c.[1008T>G;1066_1067del...

ENST00000527805.5:c.[1008T>G;1068T>A]

ENST00000527805.5:c.[1008T>G;1068T>C]

ENST00000527805.5:c.[1008T>G;1068T>G]

ENST00000527805.5:c.[1008T>G;1068T=]

ENST00000527805.5:c.[1008T>G;1071T>C]

ENST00000527805.5:c.[1008T>G;1071T=]

ENST00000527805.5:c.[1008T>G;1073A=]

ENST00000527805.5:c.[1008T>G;1074T>C]

ENST00000527805.5:c.[1008T>G;1075G=]

ENST00000527805.5:c.[1008T>G;1076A=]

ENST00000527805.5:c.[1008T>G;1077A>G]

ENST00000527805.5:c.[1008T>G;1078G=]

ENST00000527805.5:c.[1008T>G;1079A=]

ENST00000527805.5:c.[1008T>G;1080T>C]

ENST00000527805.5:c.[1008T>G;1080T=]

ENST00000527805.5:c.[1008T>G;1082C=]

ENST00000527805.5:c.[1008T>G;1083C>A]

ENST00000527805.5:c.[1008T>G;1083C=]

ENST00000527805.5:c.[1008T>G;1083C>G]

ENST00000527805.5:c.[1008T>G;1083C>T]

ENST00000527805.5:c.[1008T>G;1084A=]

ENST00000527805.5:c.[1008T>G;1084A>C]

ENST00000527805.5:c.[1008T>G;1086A=]

ENST00000527805.5:c.[1008T>G;1086A>G]

ENST00000527805.5:c.[1008T>G;1088C=]

ENST00000527805.5:c.[1008T>G;1089C>A]

ENST00000527805.5:c.[1008T>G;1089C=]

ENST00000527805.5:c.[1008T>G;1089C>G]

ENST00000527805.5:c.[1008T>G;1089C>T]