Linked Data
ClinVar Variation Id:
429080
dbSNP Id:
rs1131691162
gnomAD v2:
11-108198428-G-A
gnomAD v4:
11-108327701-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108327701G>A , CM000673.2:g.108327701G>A | GRCh38 |
| NC_000011.9:g.108198428G>A , CM000673.1:g.108198428G>A | GRCh37 |
| NC_000011.8:g.107703638G>A | NCBI36 |
| NG_009830.1:g.109870G>A , LRG_135:g.109870G>A | |
| NG_054724.1:g.147132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7032G>A (ATM) | ENSP00000388058.2:p.Trp2344Ter | |
| ENST00000713593.1:c.*6503G>A (ATM) | ENSP00000518889.1:n.*6503G>A | |
| ENST00000278616.9:c.7032G>A (ATM) | ENSP00000278616.4:p.Trp2344Ter | |
| ENST00000525056.2:n.1451G>A (ATM) | ||
| ENST00000682286.1:n.1789G>A (ATM) | ||
| ENST00000682302.1:n.1450G>A (ATM) | ||
| ENST00000683174.1:n.8516G>A (ATM) | ||
| ENST00000683524.1:n.2256G>A (ATM) | ||
| ENST00000684152.1:n.2746G>A (ATM) | ||
| ENST00000684447.1:n.1495G>A (ATM) | ||
| ENST00000527805.6:c.*2096G>A (ATM) | ENSP00000435747.2:n.*2096G>A | |
| ENST00000675595.1:c.*2167G>A (ATM) | ENSP00000502563.1:n.*2167G>A | |
| ENST00000675843.1:c.7032G>A (ATM) MANE Select | ENSP00000501606.1:p.Trp2344Ter | |
| ENST00000278616.8:c.7032G>A (ATM) | ENSP00000278616.4:p.Trp2344Ter | |
| ENST00000452508.6:c.7032G>A (ATM) | ENSP00000388058.2:p.Trp2344Ter | |
| ENST00000524792.5:n.3247G>A (ATM) | ||
| ENST00000525537.2:n.308G>A (ATM) | ||
| ENST00000525729.5:c.641-18630C>T (C11orf65) | ENSP00000433395.1:n.641-18630C>T | |
| ENST00000527389.2:n.57G>A (ATM) | ||
| ENST00000533690.5:n.2436G>A (ATM) | ||
| NM_000051.3:c.7032G>A , LRG_135t1:c.7032G>A (ATM) | NP_000042.3:p.Trp2344Ter | |
| XM_005271561.3:c.7032G>A (ATM) | XP_005271618.2:p.Trp2344Ter | |
| XM_005271562.3:c.7032G>A (ATM) | XP_005271619.2:p.Trp2344Ter | |
| XM_006718843.2:c.7032G>A (ATM) | XP_006718906.1:p.Trp2344Ter | |
| XM_006718845.1:c.2988G>A (ATM) | XP_006718908.1:p.Trp996Ter | |
| XM_011542840.1:c.7032G>A (ATM) | XP_011541142.1:p.Trp2344Ter | |
| XM_011542841.1:c.7032G>A (ATM) | XP_011541143.1:p.Trp2344Ter | |
| XM_011542842.1:c.6867G>A (ATM) | XP_011541144.1:p.Trp2289Ter | |
| XM_011542843.1:c.7032G>A (ATM) | XP_011541145.1:p.Trp2344Ter | |
| XM_011542844.1:c.5988G>A (ATM) | XP_011541146.1:p.Trp1996Ter | |
| XM_011542845.1:c.5724G>A (ATM) | XP_011541147.1:p.Trp1908Ter | |
| XM_011542847.1:c.2103G>A (ATM) | XP_011541149.1:p.Trp701Ter | |
| NM_001330368.1:c.641-18630C>T (C11orf65) | NP_001317297.1:n.641-18630C>T | |
| NM_001351110.1:c.*38+7519C>T (C11orf65) | NP_001338039.1:n.*38+7519C>T | |
| NM_001351834.1:c.7032G>A (ATM) | NP_001338763.1:p.Trp2344Ter | |
| XM_005271562.5:c.7032G>A (ATM) | XP_005271619.2:p.Trp2344Ter | |
| XM_006718843.4:c.7032G>A (ATM) | XP_006718906.1:p.Trp2344Ter | |
| XM_006718845.2:c.2988G>A (ATM) | XP_006718908.1:p.Trp996Ter | |
| XM_011542840.3:c.7032G>A (ATM) | XP_011541142.1:p.Trp2344Ter | |
| XM_011542842.3:c.6867G>A (ATM) | XP_011541144.1:p.Trp2289Ter | |
| XM_011542843.2:c.7032G>A (ATM) | XP_011541145.1:p.Trp2344Ter | |
| XM_011542844.3:c.5988G>A (ATM) | XP_011541146.1:p.Trp1996Ter | |
| XM_011542845.2:c.5724G>A (ATM) | XP_011541147.1:p.Trp1908Ter | |
| XM_017017789.2:c.7032G>A (ATM) | XP_016873278.1:p.Trp2344Ter | |
| XM_017017790.2:c.7032G>A (ATM) | XP_016873279.1:p.Trp2344Ter | |
| NM_001330368.2:c.641-18630C>T (C11orf65) | NP_001317297.1:n.641-18630C>T | |
| NM_001351110.2:c.*38+7519C>T (C11orf65) | NP_001338039.1:n.*38+7519C>T | |
| NM_001351834.2:c.7032G>A (ATM) | NP_001338763.1:p.Trp2344Ter | |
| NM_000051.4:c.7032G>A (ATM) MANE Select | NP_000042.3:p.Trp2344Ter |