ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108353857G>A , CM000673.2:g.108353857G>A | GRCh38 |
| NC_000011.9:g.108224584G>A , CM000673.1:g.108224584G>A | GRCh37 |
| NC_000011.8:g.107729794G>A | NCBI36 |
| NG_009830.1:g.136026G>A , LRG_135:g.136026G>A | |
| NG_054724.1:g.120976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8763G>A (ATM) | ENSP00000388058.2:p.Thr2921= | |
| ENST00000713593.1:c.*8234G>A (ATM) | ENSP00000518889.1:n.*8234G>A | |
| ENST00000278616.9:c.8763G>A (ATM) | ENSP00000278616.4:p.Thr2921= | |
| ENST00000638786.2:n.1461G>A (ATM) | ||
| ENST00000682286.1:n.3520G>A (ATM) | ||
| ENST00000682302.1:n.3181G>A (ATM) | ||
| ENST00000683174.1:n.10247G>A (ATM) | ||
| ENST00000683524.1:n.3987G>A (ATM) | ||
| ENST00000684152.1:n.4179G>A (ATM) | ||
| ENST00000684180.1:n.1237G>A (ATM) | ||
| ENST00000684447.1:n.5256G>A (ATM) | ||
| ENST00000527805.6:c.*3827G>A (ATM) | ENSP00000435747.2:n.*3827G>A | |
| ENST00000675595.1:c.*3898G>A (ATM) | ENSP00000502563.1:n.*3898G>A | |
| ENST00000675843.1:c.8763G>A (ATM) MANE Select | ENSP00000501606.1:p.Thr2921= | |
| ENST00000278616.8:c.8763G>A (ATM) | ENSP00000278616.4:p.Thr2921= | |
| ENST00000452508.6:c.8763G>A (ATM) | ENSP00000388058.2:p.Thr2921= | |
| ENST00000524755.5:c.227-18565C>T (C11orf65) | ||
| ENST00000524792.5:n.4978G>A (ATM) | ||
| ENST00000525178.5:n.251G>A (ATM) | ||
| ENST00000525729.5:c.640+32063C>T (C11orf65) | ENSP00000433395.1:n.640+32063C>T | |
| ENST00000526725.1:n.272-13493C>T (C11orf65) | ||
| ENST00000527181.1:n.102G>A (ATM) | ||
| ENST00000527531.5:c.*1196+1058C>T (C11orf65) | ENSP00000431706.1:n.*1196+1058C>T | |
| ENST00000615746.4:c.*1196+1058C>T (C11orf65) | ENSP00000483537.1:n.*1196+1058C>T | |
| NM_000051.3:c.8763G>A , LRG_135t1:c.8763G>A (ATM) | NP_000042.3:p.Thr2921= | |
| XM_005271414.3:c.788-18565C>T (C11orf65) | XP_005271471.1:n.788-18565C>T | |
| XM_005271415.3:c.732-18565C>T (C11orf65) | XP_005271472.1:n.732-18565C>T | |
| XM_005271561.3:c.8763G>A (ATM) | XP_005271618.2:p.Thr2921= | |
| XM_005271562.3:c.8763G>A (ATM) | XP_005271619.2:p.Thr2921= | |
| XM_006718843.2:c.8763G>A (ATM) | XP_006718906.1:p.Thr2921= | |
| XM_006718845.1:c.4719G>A (ATM) | XP_006718908.1:p.Thr1573= | |
| XM_011542640.1:c.788-13493C>T (C11orf65) | XP_011540942.1:n.788-13493C>T | |
| XM_011542642.1:c.732-4784C>T (C11orf65) | XP_011540944.1:n.732-4784C>T | |
| XM_011542643.1:c.732-13493C>T (C11orf65) | XP_011540945.1:n.732-13493C>T | |
| XM_011542840.1:c.8763G>A (ATM) | XP_011541142.1:p.Thr2921= | |
| XM_011542841.1:c.8763G>A (ATM) | XP_011541143.1:p.Thr2921= | |
| XM_011542842.1:c.8598G>A (ATM) | XP_011541144.1:p.Thr2866= | |
| XM_011542844.1:c.7719G>A (ATM) | XP_011541146.1:p.Thr2573= | |
| XM_011542845.1:c.7455G>A (ATM) | XP_011541147.1:p.Thr2485= | |
| XM_011542847.1:c.3834G>A (ATM) | XP_011541149.1:p.Thr1278= | |
| NM_001330368.1:c.640+32063C>T (C11orf65) | NP_001317297.1:n.640+32063C>T | |
| NM_001351110.1:c.695-18565C>T (C11orf65) | NP_001338039.1:n.695-18565C>T | |
| NM_001351834.1:c.8763G>A (ATM) | NP_001338763.1:p.Thr2921= | |
| NR_147053.2:n.2301+1058C>T (C11orf65) | ||
| XM_005271414.4:c.788-18565C>T (C11orf65) | XP_005271471.1:n.788-18565C>T | |
| XM_005271415.4:c.732-18565C>T (C11orf65) | XP_005271472.1:n.732-18565C>T | |
| XM_005271562.5:c.8763G>A (ATM) | XP_005271619.2:p.Thr2921= | |
| XM_006718843.4:c.8763G>A (ATM) | XP_006718906.1:p.Thr2921= | |
| XM_006718845.2:c.4719G>A (ATM) | XP_006718908.1:p.Thr1573= | |
| XM_011542640.2:c.788-13493C>T (C11orf65) | XP_011540942.1:n.788-13493C>T | |
| XM_011542643.2:c.732-13493C>T (C11orf65) | XP_011540945.1:n.732-13493C>T | |
| XM_011542840.3:c.8763G>A (ATM) | XP_011541142.1:p.Thr2921= | |
| XM_011542842.3:c.8598G>A (ATM) | XP_011541144.1:p.Thr2866= | |
| XM_011542844.3:c.7719G>A (ATM) | XP_011541146.1:p.Thr2573= | |
| XM_011542845.2:c.7455G>A (ATM) | XP_011541147.1:p.Thr2485= | |
| XM_017017247.1:c.904-13493C>T (C11orf65) | XP_016872736.1:n.904-13493C>T | |
| XM_017017789.2:c.8763G>A (ATM) | XP_016873278.1:p.Thr2921= | |
| XM_017017790.2:c.8763G>A (ATM) | XP_016873279.1:p.Thr2921= | |
| NM_001330368.2:c.640+32063C>T (C11orf65) | NP_001317297.1:n.640+32063C>T | |
| NM_001351110.2:c.695-18565C>T (C11orf65) | NP_001338039.1:n.695-18565C>T | |
| NM_001351834.2:c.8763G>A (ATM) | NP_001338763.1:p.Thr2921= | |
| NM_000051.4:c.8763G>A (ATM) MANE Select | NP_000042.3:p.Thr2921= | |
| NR_147053.3:n.2299+1058C>T (C11orf65) |