gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00010971 (SAS)
Exomes Max Group AF
0.0001155 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335862A>G , CM000673.2:g.108335862A>G | GRCh38 |
| NC_000011.9:g.108206589A>G , CM000673.1:g.108206589A>G | GRCh37 |
| NC_000011.8:g.107711799A>G | NCBI36 |
| NG_009830.1:g.118031A>G , LRG_135:g.118031A>G | |
| NG_054724.1:g.138971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8169A>G (ATM) | ENSP00000388058.2:p.Arg2723= | |
| ENST00000713593.1:c.*7640A>G (ATM) | ENSP00000518889.1:n.*7640A>G | |
| ENST00000278616.9:c.8169A>G (ATM) | ENSP00000278616.4:p.Arg2723= | |
| ENST00000525056.2:n.2588A>G (ATM) | ||
| ENST00000638786.2:n.867A>G (ATM) | ||
| ENST00000682286.1:n.2926A>G (ATM) | ||
| ENST00000682302.1:n.2587A>G (ATM) | ||
| ENST00000683174.1:n.9653A>G (ATM) | ||
| ENST00000683524.1:n.3393A>G (ATM) | ||
| ENST00000684152.1:n.3585A>G (ATM) | ||
| ENST00000684180.1:n.643A>G (ATM) | ||
| ENST00000684447.1:n.4662A>G (ATM) | ||
| ENST00000527805.6:c.*3233A>G (ATM) | ENSP00000435747.2:n.*3233A>G | |
| ENST00000675595.1:c.*3304A>G (ATM) | ENSP00000502563.1:n.*3304A>G | |
| ENST00000675843.1:c.8169A>G (ATM) MANE Select | ENSP00000501606.1:p.Arg2723= | |
| ENST00000278616.8:c.8169A>G (ATM) | ENSP00000278616.4:p.Arg2723= | |
| ENST00000452508.6:c.8169A>G (ATM) | ENSP00000388058.2:p.Arg2723= | |
| ENST00000524755.5:c.227-570T>C (C11orf65) | ||
| ENST00000524792.5:n.4384A>G (ATM) | ||
| ENST00000525056.1:n.366A>G (ATM) | ||
| ENST00000525729.5:c.641-26791T>C (C11orf65) | ENSP00000433395.1:n.641-26791T>C | |
| ENST00000527531.5:c.*1197-570T>C (C11orf65) | ENSP00000431706.1:n.*1197-570T>C | |
| ENST00000533979.5:n.381A>G (ATM) | ||
| ENST00000615746.4:c.*1197-570T>C (C11orf65) | ENSP00000483537.1:n.*1197-570T>C | |
| NM_000051.3:c.8169A>G , LRG_135t1:c.8169A>G (ATM) | NP_000042.3:p.Arg2723= | |
| XM_005271414.3:c.788-570T>C (C11orf65) | XP_005271471.1:n.788-570T>C | |
| XM_005271415.3:c.732-570T>C (C11orf65) | XP_005271472.1:n.732-570T>C | |
| XM_005271561.3:c.8169A>G (ATM) | XP_005271618.2:p.Arg2723= | |
| XM_005271562.3:c.8169A>G (ATM) | XP_005271619.2:p.Arg2723= | |
| XM_006718843.2:c.8169A>G (ATM) | XP_006718906.1:p.Arg2723= | |
| XM_006718845.1:c.4125A>G (ATM) | XP_006718908.1:p.Arg1375= | |
| XM_011542840.1:c.8169A>G (ATM) | XP_011541142.1:p.Arg2723= | |
| XM_011542841.1:c.8169A>G (ATM) | XP_011541143.1:p.Arg2723= | |
| XM_011542842.1:c.8004A>G (ATM) | XP_011541144.1:p.Arg2668= | |
| XM_011542843.1:c.8169A>G (ATM) | XP_011541145.1:p.Arg2723= | |
| XM_011542844.1:c.7125A>G (ATM) | XP_011541146.1:p.Arg2375= | |
| XM_011542845.1:c.6861A>G (ATM) | XP_011541147.1:p.Arg2287= | |
| XM_011542847.1:c.3240A>G (ATM) | XP_011541149.1:p.Arg1080= | |
| NM_001330368.1:c.641-26791T>C (C11orf65) | NP_001317297.1:n.641-26791T>C | |
| NM_001351110.1:c.695-570T>C (C11orf65) | NP_001338039.1:n.695-570T>C | |
| NM_001351834.1:c.8169A>G (ATM) | NP_001338763.1:p.Arg2723= | |
| NR_147053.2:n.2302-570T>C (C11orf65) | ||
| XM_005271414.4:c.788-570T>C (C11orf65) | XP_005271471.1:n.788-570T>C | |
| XM_005271415.4:c.732-570T>C (C11orf65) | XP_005271472.1:n.732-570T>C | |
| XM_005271562.5:c.8169A>G (ATM) | XP_005271619.2:p.Arg2723= | |
| XM_006718843.4:c.8169A>G (ATM) | XP_006718906.1:p.Arg2723= | |
| XM_006718845.2:c.4125A>G (ATM) | XP_006718908.1:p.Arg1375= | |
| XM_011542840.3:c.8169A>G (ATM) | XP_011541142.1:p.Arg2723= | |
| XM_011542842.3:c.8004A>G (ATM) | XP_011541144.1:p.Arg2668= | |
| XM_011542843.2:c.8169A>G (ATM) | XP_011541145.1:p.Arg2723= | |
| XM_011542844.3:c.7125A>G (ATM) | XP_011541146.1:p.Arg2375= | |
| XM_011542845.2:c.6861A>G (ATM) | XP_011541147.1:p.Arg2287= | |
| XM_017017789.2:c.8169A>G (ATM) | XP_016873278.1:p.Arg2723= | |
| XM_017017790.2:c.8169A>G (ATM) | XP_016873279.1:p.Arg2723= | |
| NM_001330368.2:c.641-26791T>C (C11orf65) | NP_001317297.1:n.641-26791T>C | |
| NM_001351110.2:c.695-570T>C (C11orf65) | NP_001338039.1:n.695-570T>C | |
| NM_001351834.2:c.8169A>G (ATM) | NP_001338763.1:p.Arg2723= | |
| NM_000051.4:c.8169A>G (ATM) MANE Select | NP_000042.3:p.Arg2723= | |
| NR_147053.3:n.2300-570T>C (C11orf65) |