Linked Data
ClinVar Variation Id:
221911
dbSNP Id:
rs778031266
ExAC:
11:108186841 G / A
gnomAD v2:
11-108186841-G-A
gnomAD v4:
11-108316114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108316114G>A , CM000673.2:g.108316114G>A | GRCh38 |
| NC_000011.9:g.108186841G>A , CM000673.1:g.108186841G>A | GRCh37 |
| NC_000011.8:g.107692051G>A | NCBI36 |
| NG_009830.1:g.98283G>A , LRG_135:g.98283G>A | |
| NG_054724.1:g.158719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6198+1G>A (ATM) | ENSP00000388058.2:n.6198+1G>A | |
| ENST00000713593.1:c.*5669+1G>A (ATM) | ENSP00000518889.1:n.*5669+1G>A | |
| ENST00000278616.9:c.6198+1G>A (ATM) | ENSP00000278616.4:n.6198+1G>A | |
| ENST00000525056.2:n.617+1G>A (ATM) | ||
| ENST00000682286.1:n.955+1G>A (ATM) | ||
| ENST00000682302.1:n.616+1G>A (ATM) | ||
| ENST00000683174.1:n.7682+1G>A (ATM) | ||
| ENST00000683524.1:n.1422+1G>A (ATM) | ||
| ENST00000684152.1:n.1912+1G>A (ATM) | ||
| ENST00000527805.6:c.*1262+1G>A (ATM) | ENSP00000435747.2:n.*1262+1G>A | |
| ENST00000675595.1:c.*1262+1G>A (ATM) | ENSP00000502563.1:n.*1262+1G>A | |
| ENST00000675843.1:c.6198+1G>A (ATM) MANE Select | ENSP00000501606.1:n.6198+1G>A | |
| ENST00000278616.8:c.6198+1G>A (ATM) | ENSP00000278616.4:n.6198+1G>A | |
| ENST00000452508.6:c.6198+1G>A (ATM) | ENSP00000388058.2:n.6198+1G>A | |
| ENST00000524792.5:n.2413+1G>A (ATM) | ||
| ENST00000525729.5:c.641-7043C>T (C11orf65) | ENSP00000433395.1:n.641-7043C>T | |
| ENST00000532765.1:n.515+1G>A (ATM) | ||
| ENST00000533690.5:n.1602+1G>A (ATM) | ||
| NM_000051.3:c.6198+1G>A , LRG_135t1:c.6198+1G>A (ATM) | NP_000042.3:n.6198+1G>A | |
| XM_005271561.3:c.6198+1G>A (ATM) | XP_005271618.2:n.6198+1G>A | |
| XM_005271562.3:c.6198+1G>A (ATM) | XP_005271619.2:n.6198+1G>A | |
| XM_006718843.2:c.6198+1G>A (ATM) | XP_006718906.1:n.6198+1G>A | |
| XM_006718845.1:c.2154+1G>A (ATM) | XP_006718908.1:n.2154+1G>A | |
| XM_011542840.1:c.6198+1G>A (ATM) | XP_011541142.1:n.6198+1G>A | |
| XM_011542841.1:c.6198+1G>A (ATM) | XP_011541143.1:n.6198+1G>A | |
| XM_011542842.1:c.6033+1G>A (ATM) | XP_011541144.1:n.6033+1G>A | |
| XM_011542843.1:c.6198+1G>A (ATM) | XP_011541145.1:n.6198+1G>A | |
| XM_011542844.1:c.5154+1G>A (ATM) | XP_011541146.1:n.5154+1G>A | |
| XM_011542845.1:c.4890+1G>A (ATM) | XP_011541147.1:n.4890+1G>A | |
| XM_011542847.1:c.1269+1G>A (ATM) | XP_011541149.1:n.1269+1G>A | |
| NM_001330368.1:c.641-7043C>T (C11orf65) | NP_001317297.1:n.641-7043C>T | |
| NM_001351110.1:c.*39-7043C>T (C11orf65) | NP_001338039.1:n.*39-7043C>T | |
| NM_001351834.1:c.6198+1G>A (ATM) | NP_001338763.1:n.6198+1G>A | |
| XM_005271562.5:c.6198+1G>A (ATM) | XP_005271619.2:n.6198+1G>A | |
| XM_006718843.4:c.6198+1G>A (ATM) | XP_006718906.1:n.6198+1G>A | |
| XM_006718845.2:c.2154+1G>A (ATM) | XP_006718908.1:n.2154+1G>A | |
| XM_011542840.3:c.6198+1G>A (ATM) | XP_011541142.1:n.6198+1G>A | |
| XM_011542842.3:c.6033+1G>A (ATM) | XP_011541144.1:n.6033+1G>A | |
| XM_011542843.2:c.6198+1G>A (ATM) | XP_011541145.1:n.6198+1G>A | |
| XM_011542844.3:c.5154+1G>A (ATM) | XP_011541146.1:n.5154+1G>A | |
| XM_011542845.2:c.4890+1G>A (ATM) | XP_011541147.1:n.4890+1G>A | |
| XM_017017789.2:c.6198+1G>A (ATM) | XP_016873278.1:n.6198+1G>A | |
| XM_017017790.2:c.6198+1G>A (ATM) | XP_016873279.1:n.6198+1G>A | |
| XM_017017791.1:c.6198+1G>A (ATM) | XP_016873280.1:n.6198+1G>A | |
| NM_001330368.2:c.641-7043C>T (C11orf65) | NP_001317297.1:n.641-7043C>T | |
| NM_001351110.2:c.*39-7043C>T (C11orf65) | NP_001338039.1:n.*39-7043C>T | |
| NM_001351834.2:c.6198+1G>A (ATM) | NP_001338763.1:n.6198+1G>A | |
| NM_000051.4:c.6198+1G>A (ATM) MANE Select | NP_000042.3:n.6198+1G>A |