Revel Score:
ENST00000278616
0.505
ENST00000452508
0.505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335940A>C , CM000673.2:g.108335940A>C | GRCh38 |
| NC_000011.9:g.108206667A>C , CM000673.1:g.108206667A>C | GRCh37 |
| NC_000011.8:g.107711877A>C | NCBI36 |
| NG_009830.1:g.118109A>C , LRG_135:g.118109A>C | |
| NG_054724.1:g.138893T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8247A>C (ATM) | ENSP00000388058.2:p.Lys2749Asn | |
| ENST00000713593.1:c.*7718A>C (ATM) | ENSP00000518889.1:n.*7718A>C | |
| ENST00000278616.9:c.8247A>C (ATM) | ENSP00000278616.4:p.Lys2749Asn | |
| ENST00000525056.2:n.2666A>C (ATM) | ||
| ENST00000638786.2:n.945A>C (ATM) | ||
| ENST00000682286.1:n.3004A>C (ATM) | ||
| ENST00000682302.1:n.2665A>C (ATM) | ||
| ENST00000683174.1:n.9731A>C (ATM) | ||
| ENST00000683524.1:n.3471A>C (ATM) | ||
| ENST00000684152.1:n.3663A>C (ATM) | ||
| ENST00000684180.1:n.721A>C (ATM) | ||
| ENST00000684447.1:n.4740A>C (ATM) | ||
| ENST00000527805.6:c.*3311A>C (ATM) | ENSP00000435747.2:n.*3311A>C | |
| ENST00000675595.1:c.*3382A>C (ATM) | ENSP00000502563.1:n.*3382A>C | |
| ENST00000675843.1:c.8247A>C (ATM) MANE Select | ENSP00000501606.1:p.Lys2749Asn | |
| ENST00000278616.8:c.8247A>C (ATM) | ENSP00000278616.4:p.Lys2749Asn | |
| ENST00000452508.6:c.8247A>C (ATM) | ENSP00000388058.2:p.Lys2749Asn | |
| ENST00000524755.5:c.227-648T>G (C11orf65) | ||
| ENST00000524792.5:n.4462A>C (ATM) | ||
| ENST00000525056.1:n.444A>C (ATM) | ||
| ENST00000525729.5:c.641-26869T>G (C11orf65) | ENSP00000433395.1:n.641-26869T>G | |
| ENST00000527531.5:c.*1197-648T>G (C11orf65) | ENSP00000431706.1:n.*1197-648T>G | |
| ENST00000533979.5:n.459A>C (ATM) | ||
| ENST00000615746.4:c.*1197-648T>G (C11orf65) | ENSP00000483537.1:n.*1197-648T>G | |
| NM_000051.3:c.8247A>C , LRG_135t1:c.8247A>C (ATM) | NP_000042.3:p.Lys2749Asn | |
| XM_005271414.3:c.788-648T>G (C11orf65) | XP_005271471.1:n.788-648T>G | |
| XM_005271415.3:c.732-648T>G (C11orf65) | XP_005271472.1:n.732-648T>G | |
| XM_005271561.3:c.8247A>C (ATM) | XP_005271618.2:p.Lys2749Asn | |
| XM_005271562.3:c.8247A>C (ATM) | XP_005271619.2:p.Lys2749Asn | |
| XM_006718843.2:c.8247A>C (ATM) | XP_006718906.1:p.Lys2749Asn | |
| XM_006718845.1:c.4203A>C (ATM) | XP_006718908.1:p.Lys1401Asn | |
| XM_011542840.1:c.8247A>C (ATM) | XP_011541142.1:p.Lys2749Asn | |
| XM_011542841.1:c.8247A>C (ATM) | XP_011541143.1:p.Lys2749Asn | |
| XM_011542842.1:c.8082A>C (ATM) | XP_011541144.1:p.Lys2694Asn | |
| XM_011542843.1:c.8247A>C (ATM) | XP_011541145.1:p.Lys2749Asn | |
| XM_011542844.1:c.7203A>C (ATM) | XP_011541146.1:p.Lys2401Asn | |
| XM_011542845.1:c.6939A>C (ATM) | XP_011541147.1:p.Lys2313Asn | |
| XM_011542847.1:c.3318A>C (ATM) | XP_011541149.1:p.Lys1106Asn | |
| NM_001330368.1:c.641-26869T>G (C11orf65) | NP_001317297.1:n.641-26869T>G | |
| NM_001351110.1:c.695-648T>G (C11orf65) | NP_001338039.1:n.695-648T>G | |
| NM_001351834.1:c.8247A>C (ATM) | NP_001338763.1:p.Lys2749Asn | |
| NR_147053.2:n.2302-648T>G (C11orf65) | ||
| XM_005271414.4:c.788-648T>G (C11orf65) | XP_005271471.1:n.788-648T>G | |
| XM_005271415.4:c.732-648T>G (C11orf65) | XP_005271472.1:n.732-648T>G | |
| XM_005271562.5:c.8247A>C (ATM) | XP_005271619.2:p.Lys2749Asn | |
| XM_006718843.4:c.8247A>C (ATM) | XP_006718906.1:p.Lys2749Asn | |
| XM_006718845.2:c.4203A>C (ATM) | XP_006718908.1:p.Lys1401Asn | |
| XM_011542840.3:c.8247A>C (ATM) | XP_011541142.1:p.Lys2749Asn | |
| XM_011542842.3:c.8082A>C (ATM) | XP_011541144.1:p.Lys2694Asn | |
| XM_011542843.2:c.8247A>C (ATM) | XP_011541145.1:p.Lys2749Asn | |
| XM_011542844.3:c.7203A>C (ATM) | XP_011541146.1:p.Lys2401Asn | |
| XM_011542845.2:c.6939A>C (ATM) | XP_011541147.1:p.Lys2313Asn | |
| XM_017017789.2:c.8247A>C (ATM) | XP_016873278.1:p.Lys2749Asn | |
| XM_017017790.2:c.8247A>C (ATM) | XP_016873279.1:p.Lys2749Asn | |
| NM_001330368.2:c.641-26869T>G (C11orf65) | NP_001317297.1:n.641-26869T>G | |
| NM_001351110.2:c.695-648T>G (C11orf65) | NP_001338039.1:n.695-648T>G | |
| NM_001351834.2:c.8247A>C (ATM) | NP_001338763.1:p.Lys2749Asn | |
| NM_000051.4:c.8247A>C (ATM) MANE Select | NP_000042.3:p.Lys2749Asn | |
| NR_147053.3:n.2300-648T>G (C11orf65) |