Linked Data
ClinVar Variation Id:
141344
dbSNP Id:
rs587781672
gnomAD v2:
11-108199754-G-T
gnomAD v4:
11-108329027-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329027G>T , CM000673.2:g.108329027G>T | GRCh38 |
| NC_000011.9:g.108199754G>T , CM000673.1:g.108199754G>T | GRCh37 |
| NC_000011.8:g.107704964G>T | NCBI36 |
| NG_009830.1:g.111196G>T , LRG_135:g.111196G>T | |
| NG_054724.1:g.145806C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7096G>T (ATM) | ENSP00000388058.2:p.Glu2366Ter | |
| ENST00000713593.1:c.*6567G>T (ATM) | ENSP00000518889.1:n.*6567G>T | |
| ENST00000278616.9:c.7096G>T (ATM) | ENSP00000278616.4:p.Glu2366Ter | |
| ENST00000525056.2:n.1515G>T (ATM) | ||
| ENST00000525537.3:n.53G>T (ATM) | ||
| ENST00000682286.1:n.1853G>T (ATM) | ||
| ENST00000682302.1:n.1514G>T (ATM) | ||
| ENST00000683174.1:n.8580G>T (ATM) | ||
| ENST00000683524.1:n.2320G>T (ATM) | ||
| ENST00000684152.1:n.2810G>T (ATM) | ||
| ENST00000684447.1:n.1559G>T (ATM) | ||
| ENST00000527805.6:c.*2160G>T (ATM) | ENSP00000435747.2:n.*2160G>T | |
| ENST00000675595.1:c.*2231G>T (ATM) | ENSP00000502563.1:n.*2231G>T | |
| ENST00000675843.1:c.7096G>T (ATM) MANE Select | ENSP00000501606.1:p.Glu2366Ter | |
| ENST00000278616.8:c.7096G>T (ATM) | ENSP00000278616.4:p.Glu2366Ter | |
| ENST00000452508.6:c.7096G>T (ATM) | ENSP00000388058.2:p.Glu2366Ter | |
| ENST00000524792.5:n.3311G>T (ATM) | ||
| ENST00000525537.2:n.372G>T (ATM) | ||
| ENST00000525729.5:c.641-19956C>A (C11orf65) | ENSP00000433395.1:n.641-19956C>A | |
| ENST00000527389.2:n.121G>T (ATM) | ||
| ENST00000533690.5:n.2500G>T (ATM) | ||
| NM_000051.3:c.7096G>T , LRG_135t1:c.7096G>T (ATM) | NP_000042.3:p.Glu2366Ter | |
| XM_005271561.3:c.7096G>T (ATM) | XP_005271618.2:p.Glu2366Ter | |
| XM_005271562.3:c.7096G>T (ATM) | XP_005271619.2:p.Glu2366Ter | |
| XM_006718843.2:c.7096G>T (ATM) | XP_006718906.1:p.Glu2366Ter | |
| XM_006718845.1:c.3052G>T (ATM) | XP_006718908.1:p.Glu1018Ter | |
| XM_011542840.1:c.7096G>T (ATM) | XP_011541142.1:p.Glu2366Ter | |
| XM_011542841.1:c.7096G>T (ATM) | XP_011541143.1:p.Glu2366Ter | |
| XM_011542842.1:c.6931G>T (ATM) | XP_011541144.1:p.Glu2311Ter | |
| XM_011542843.1:c.7096G>T (ATM) | XP_011541145.1:p.Glu2366Ter | |
| XM_011542844.1:c.6052G>T (ATM) | XP_011541146.1:p.Glu2018Ter | |
| XM_011542845.1:c.5788G>T (ATM) | XP_011541147.1:p.Glu1930Ter | |
| XM_011542847.1:c.2167G>T (ATM) | XP_011541149.1:p.Glu723Ter | |
| NM_001330368.1:c.641-19956C>A (C11orf65) | NP_001317297.1:n.641-19956C>A | |
| NM_001351110.1:c.*38+6193C>A (C11orf65) | NP_001338039.1:n.*38+6193C>A | |
| NM_001351834.1:c.7096G>T (ATM) | NP_001338763.1:p.Glu2366Ter | |
| XM_005271562.5:c.7096G>T (ATM) | XP_005271619.2:p.Glu2366Ter | |
| XM_006718843.4:c.7096G>T (ATM) | XP_006718906.1:p.Glu2366Ter | |
| XM_006718845.2:c.3052G>T (ATM) | XP_006718908.1:p.Glu1018Ter | |
| XM_011542840.3:c.7096G>T (ATM) | XP_011541142.1:p.Glu2366Ter | |
| XM_011542842.3:c.6931G>T (ATM) | XP_011541144.1:p.Glu2311Ter | |
| XM_011542843.2:c.7096G>T (ATM) | XP_011541145.1:p.Glu2366Ter | |
| XM_011542844.3:c.6052G>T (ATM) | XP_011541146.1:p.Glu2018Ter | |
| XM_011542845.2:c.5788G>T (ATM) | XP_011541147.1:p.Glu1930Ter | |
| XM_017017789.2:c.7096G>T (ATM) | XP_016873278.1:p.Glu2366Ter | |
| XM_017017790.2:c.7096G>T (ATM) | XP_016873279.1:p.Glu2366Ter | |
| NM_001330368.2:c.641-19956C>A (C11orf65) | NP_001317297.1:n.641-19956C>A | |
| NM_001351110.2:c.*38+6193C>A (C11orf65) | NP_001338039.1:n.*38+6193C>A | |
| NM_001351834.2:c.7096G>T (ATM) | NP_001338763.1:p.Glu2366Ter | |
| NM_000051.4:c.7096G>T (ATM) MANE Select | NP_000042.3:p.Glu2366Ter |