Linked Data
ClinVar Variation Id:
407495
dbSNP Id:
rs745319720
ExAC:
11:108200931 T / G
gnomAD v2:
11-108200931-T-G
gnomAD v4:
11-108330204-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108330204T>G , CM000673.2:g.108330204T>G | GRCh38 |
| NC_000011.9:g.108200931T>G , CM000673.1:g.108200931T>G | GRCh37 |
| NC_000011.8:g.107706141T>G | NCBI36 |
| NG_009830.1:g.112373T>G , LRG_135:g.112373T>G | |
| NG_054724.1:g.144629A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7308-10T>G (ATM) | ENSP00000388058.2:n.7308-10T>G | |
| ENST00000713593.1:c.*6779-10T>G (ATM) | ENSP00000518889.1:n.*6779-10T>G | |
| ENST00000278616.9:c.7308-10T>G (ATM) | ENSP00000278616.4:n.7308-10T>G | |
| ENST00000525056.2:n.1727-10T>G (ATM) | ||
| ENST00000525537.3:n.265-10T>G (ATM) | ||
| ENST00000638786.2:n.145-10T>G (ATM) | ||
| ENST00000682286.1:n.2065-10T>G (ATM) | ||
| ENST00000682302.1:n.1726-10T>G (ATM) | ||
| ENST00000683174.1:n.8792-10T>G (ATM) | ||
| ENST00000683524.1:n.2532-10T>G (ATM) | ||
| ENST00000684152.1:n.3022-10T>G (ATM) | ||
| ENST00000684447.1:n.1771-10T>G (ATM) | ||
| ENST00000527805.6:c.*2372-10T>G (ATM) | ENSP00000435747.2:n.*2372-10T>G | |
| ENST00000675595.1:c.*2443-10T>G (ATM) | ENSP00000502563.1:n.*2443-10T>G | |
| ENST00000675843.1:c.7308-10T>G (ATM) MANE Select | ENSP00000501606.1:n.7308-10T>G | |
| ENST00000278616.8:c.7308-10T>G (ATM) | ENSP00000278616.4:n.7308-10T>G | |
| ENST00000452508.6:c.7308-10T>G (ATM) | ENSP00000388058.2:n.7308-10T>G | |
| ENST00000524792.5:n.3523-10T>G (ATM) | ||
| ENST00000525729.5:c.641-21133A>C (C11orf65) | ENSP00000433395.1:n.641-21133A>C | |
| ENST00000533690.5:n.2712-10T>G (ATM) | ||
| NM_000051.3:c.7308-10T>G , LRG_135t1:c.7308-10T>G (ATM) | NP_000042.3:n.7308-10T>G | |
| XM_005271561.3:c.7308-10T>G (ATM) | XP_005271618.2:n.7308-10T>G | |
| XM_005271562.3:c.7308-10T>G (ATM) | XP_005271619.2:n.7308-10T>G | |
| XM_006718843.2:c.7308-10T>G (ATM) | XP_006718906.1:n.7308-10T>G | |
| XM_006718845.1:c.3264-10T>G (ATM) | XP_006718908.1:n.3264-10T>G | |
| XM_011542840.1:c.7308-10T>G (ATM) | XP_011541142.1:n.7308-10T>G | |
| XM_011542841.1:c.7308-10T>G (ATM) | XP_011541143.1:n.7308-10T>G | |
| XM_011542842.1:c.7143-10T>G (ATM) | XP_011541144.1:n.7143-10T>G | |
| XM_011542843.1:c.7308-10T>G (ATM) | XP_011541145.1:n.7308-10T>G | |
| XM_011542844.1:c.6264-10T>G (ATM) | XP_011541146.1:n.6264-10T>G | |
| XM_011542845.1:c.6000-10T>G (ATM) | XP_011541147.1:n.6000-10T>G | |
| XM_011542847.1:c.2379-10T>G (ATM) | XP_011541149.1:n.2379-10T>G | |
| NM_001330368.1:c.641-21133A>C (C11orf65) | NP_001317297.1:n.641-21133A>C | |
| NM_001351110.1:c.*38+5016A>C (C11orf65) | NP_001338039.1:n.*38+5016A>C | |
| NM_001351834.1:c.7308-10T>G (ATM) | NP_001338763.1:n.7308-10T>G | |
| XM_005271562.5:c.7308-10T>G (ATM) | XP_005271619.2:n.7308-10T>G | |
| XM_006718843.4:c.7308-10T>G (ATM) | XP_006718906.1:n.7308-10T>G | |
| XM_006718845.2:c.3264-10T>G (ATM) | XP_006718908.1:n.3264-10T>G | |
| XM_011542840.3:c.7308-10T>G (ATM) | XP_011541142.1:n.7308-10T>G | |
| XM_011542842.3:c.7143-10T>G (ATM) | XP_011541144.1:n.7143-10T>G | |
| XM_011542843.2:c.7308-10T>G (ATM) | XP_011541145.1:n.7308-10T>G | |
| XM_011542844.3:c.6264-10T>G (ATM) | XP_011541146.1:n.6264-10T>G | |
| XM_011542845.2:c.6000-10T>G (ATM) | XP_011541147.1:n.6000-10T>G | |
| XM_017017789.2:c.7308-10T>G (ATM) | XP_016873278.1:n.7308-10T>G | |
| XM_017017790.2:c.7308-10T>G (ATM) | XP_016873279.1:n.7308-10T>G | |
| NM_001330368.2:c.641-21133A>C (C11orf65) | NP_001317297.1:n.641-21133A>C | |
| NM_001351110.2:c.*38+5016A>C (C11orf65) | NP_001338039.1:n.*38+5016A>C | |
| NM_001351834.2:c.7308-10T>G (ATM) | NP_001338763.1:n.7308-10T>G | |
| NM_000051.4:c.7308-10T>G (ATM) MANE Select | NP_000042.3:n.7308-10T>G |