Revel Score:
ENST00000278616
0.118
ENST00000452508
0.118
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108325447A>C , CM000673.2:g.108325447A>C | GRCh38 |
| NC_000011.9:g.108196174A>C , CM000673.1:g.108196174A>C | GRCh37 |
| NC_000011.8:g.107701384A>C | NCBI36 |
| NG_009830.1:g.107616A>C , LRG_135:g.107616A>C | |
| NG_054724.1:g.149386T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6710A>C (ATM) | ENSP00000388058.2:p.Lys2237Thr | |
| ENST00000713593.1:c.*6181A>C (ATM) | ENSP00000518889.1:n.*6181A>C | |
| ENST00000278616.9:c.6710A>C (ATM) | ENSP00000278616.4:p.Lys2237Thr | |
| ENST00000525056.2:n.1129A>C (ATM) | ||
| ENST00000682286.1:n.1467A>C (ATM) | ||
| ENST00000682302.1:n.1128A>C (ATM) | ||
| ENST00000683174.1:n.8194A>C (ATM) | ||
| ENST00000683524.1:n.1934A>C (ATM) | ||
| ENST00000684152.1:n.2424A>C (ATM) | ||
| ENST00000527805.6:c.*1774A>C (ATM) | ENSP00000435747.2:n.*1774A>C | |
| ENST00000675595.1:c.*1845A>C (ATM) | ENSP00000502563.1:n.*1845A>C | |
| ENST00000675843.1:c.6710A>C (ATM) MANE Select | ENSP00000501606.1:p.Lys2237Thr | |
| ENST00000278616.8:c.6710A>C (ATM) | ENSP00000278616.4:p.Lys2237Thr | |
| ENST00000452508.6:c.6710A>C (ATM) | ENSP00000388058.2:p.Lys2237Thr | |
| ENST00000524792.5:n.2925A>C (ATM) | ||
| ENST00000525729.5:c.641-16376T>G (C11orf65) | ENSP00000433395.1:n.641-16376T>G | |
| ENST00000533690.5:n.2114A>C (ATM) | ||
| NM_000051.3:c.6710A>C , LRG_135t1:c.6710A>C (ATM) | NP_000042.3:p.Lys2237Thr | |
| XM_005271561.3:c.6710A>C (ATM) | XP_005271618.2:p.Lys2237Thr | |
| XM_005271562.3:c.6710A>C (ATM) | XP_005271619.2:p.Lys2237Thr | |
| XM_006718843.2:c.6710A>C (ATM) | XP_006718906.1:p.Lys2237Thr | |
| XM_006718845.1:c.2666A>C (ATM) | XP_006718908.1:p.Lys889Thr | |
| XM_011542840.1:c.6710A>C (ATM) | XP_011541142.1:p.Lys2237Thr | |
| XM_011542841.1:c.6710A>C (ATM) | XP_011541143.1:p.Lys2237Thr | |
| XM_011542842.1:c.6545A>C (ATM) | XP_011541144.1:p.Lys2182Thr | |
| XM_011542843.1:c.6710A>C (ATM) | XP_011541145.1:p.Lys2237Thr | |
| XM_011542844.1:c.5666A>C (ATM) | XP_011541146.1:p.Lys1889Thr | |
| XM_011542845.1:c.5402A>C (ATM) | XP_011541147.1:p.Lys1801Thr | |
| XM_011542847.1:c.1781A>C (ATM) | XP_011541149.1:p.Lys594Thr | |
| NM_001330368.1:c.641-16376T>G (C11orf65) | NP_001317297.1:n.641-16376T>G | |
| NM_001351110.1:c.*38+9773T>G (C11orf65) | NP_001338039.1:n.*38+9773T>G | |
| NM_001351834.1:c.6710A>C (ATM) | NP_001338763.1:p.Lys2237Thr | |
| XM_005271562.5:c.6710A>C (ATM) | XP_005271619.2:p.Lys2237Thr | |
| XM_006718843.4:c.6710A>C (ATM) | XP_006718906.1:p.Lys2237Thr | |
| XM_006718845.2:c.2666A>C (ATM) | XP_006718908.1:p.Lys889Thr | |
| XM_011542840.3:c.6710A>C (ATM) | XP_011541142.1:p.Lys2237Thr | |
| XM_011542842.3:c.6545A>C (ATM) | XP_011541144.1:p.Lys2182Thr | |
| XM_011542843.2:c.6710A>C (ATM) | XP_011541145.1:p.Lys2237Thr | |
| XM_011542844.3:c.5666A>C (ATM) | XP_011541146.1:p.Lys1889Thr | |
| XM_011542845.2:c.5402A>C (ATM) | XP_011541147.1:p.Lys1801Thr | |
| XM_017017789.2:c.6710A>C (ATM) | XP_016873278.1:p.Lys2237Thr | |
| XM_017017790.2:c.6710A>C (ATM) | XP_016873279.1:p.Lys2237Thr | |
| NM_001330368.2:c.641-16376T>G (C11orf65) | NP_001317297.1:n.641-16376T>G | |
| NM_001351110.2:c.*38+9773T>G (C11orf65) | NP_001338039.1:n.*38+9773T>G | |
| NM_001351834.2:c.6710A>C (ATM) | NP_001338763.1:p.Lys2237Thr | |
| NM_000051.4:c.6710A>C (ATM) MANE Select | NP_000042.3:p.Lys2237Thr |