ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108321330_108321331dup , CM000673.2:g.108321330_108321331dup | GRCh38 |
| NC_000011.9:g.108192057_108192058dup , CM000673.1:g.108192057_108192058dup | GRCh37 |
| NC_000011.8:g.107697267_107697268dup | NCBI36 |
| NG_009830.1:g.103499_103500dup , LRG_135:g.103499_103500dup | |
| NG_054724.1:g.153504_153505dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6482_6483dup (ATM) | ENSP00000388058.2:p.Ser2162AlafsTer? | |
| ENST00000713593.1:c.*5953_*5954dup (ATM) | ENSP00000518889.1:n.*5953_*5954dup | |
| ENST00000278616.9:c.6482_6483dup (ATM) | ENSP00000278616.4:p.Ser2162AlafsTer? | |
| ENST00000525056.2:n.901_902dup (ATM) | ||
| ENST00000682286.1:n.1239_1240dup (ATM) | ||
| ENST00000682302.1:n.900_901dup (ATM) | ||
| ENST00000683174.1:n.7966_7967dup (ATM) | ||
| ENST00000683524.1:n.1706_1707dup (ATM) | ||
| ENST00000684152.1:n.2196_2197dup (ATM) | ||
| ENST00000527805.6:c.*1546_*1547dup (ATM) | ENSP00000435747.2:n.*1546_*1547dup | |
| ENST00000675595.1:c.*1617_*1618dup (ATM) | ENSP00000502563.1:n.*1617_*1618dup | |
| ENST00000675843.1:c.6482_6483dup (ATM) MANE Select | ENSP00000501606.1:p.Ser2162AlafsTer? | |
| ENST00000278616.8:c.6482_6483dup (ATM) | ENSP00000278616.4:p.Ser2162AlafsTer? | |
| ENST00000452508.6:c.6482_6483dup (ATM) | ENSP00000388058.2:p.Ser2162AlafsTer? | |
| ENST00000524792.5:n.2697_2698dup (ATM) | ||
| ENST00000525729.5:c.641-12258_641-12257dup (C11orf65) | ENSP00000433395.1:n.641-12258_641-12257dup | |
| ENST00000533690.5:n.1886_1887dup (ATM) | ||
| NM_000051.3:c.6482_6483dup , LRG_135t1:c.6482_6483dup (ATM) | NP_000042.3:p.Ser2162AlafsTer? | |
| XM_005271561.3:c.6482_6483dup (ATM) | XP_005271618.2:p.Ser2162AlafsTer? | |
| XM_005271562.3:c.6482_6483dup (ATM) | XP_005271619.2:p.Ser2162AlafsTer? | |
| XM_006718843.2:c.6482_6483dup (ATM) | XP_006718906.1:p.Ser2162AlafsTer? | |
| XM_006718845.1:c.2438_2439dup (ATM) | XP_006718908.1:p.Ser814AlafsTer? | |
| XM_011542840.1:c.6482_6483dup (ATM) | XP_011541142.1:p.Ser2162AlafsTer? | |
| XM_011542841.1:c.6482_6483dup (ATM) | XP_011541143.1:p.Ser2162AlafsTer? | |
| XM_011542842.1:c.6317_6318dup (ATM) | XP_011541144.1:p.Ser2107AlafsTer? | |
| XM_011542843.1:c.6482_6483dup (ATM) | XP_011541145.1:p.Ser2162AlafsTer? | |
| XM_011542844.1:c.5438_5439dup (ATM) | XP_011541146.1:p.Ser1814AlafsTer? | |
| XM_011542845.1:c.5174_5175dup (ATM) | XP_011541147.1:p.Ser1726AlafsTer? | |
| XM_011542847.1:c.1553_1554dup (ATM) | XP_011541149.1:p.Ser519AlafsTer? | |
| NM_001330368.1:c.641-12258_641-12257dup (C11orf65) | NP_001317297.1:n.641-12258_641-12257dup | |
| NM_001351110.1:c.*39-12258_*39-12257dup (C11orf65) | NP_001338039.1:n.*39-12258_*39-12257dup | |
| NM_001351834.1:c.6482_6483dup (ATM) | NP_001338763.1:p.Ser2162AlafsTer? | |
| XM_005271562.5:c.6482_6483dup (ATM) | XP_005271619.2:p.Ser2162AlafsTer? | |
| XM_006718843.4:c.6482_6483dup (ATM) | XP_006718906.1:p.Ser2162AlafsTer? | |
| XM_006718845.2:c.2438_2439dup (ATM) | XP_006718908.1:p.Ser814AlafsTer? | |
| XM_011542840.3:c.6482_6483dup (ATM) | XP_011541142.1:p.Ser2162AlafsTer? | |
| XM_011542842.3:c.6317_6318dup (ATM) | XP_011541144.1:p.Ser2107AlafsTer? | |
| XM_011542843.2:c.6482_6483dup (ATM) | XP_011541145.1:p.Ser2162AlafsTer? | |
| XM_011542844.3:c.5438_5439dup (ATM) | XP_011541146.1:p.Ser1814AlafsTer? | |
| XM_011542845.2:c.5174_5175dup (ATM) | XP_011541147.1:p.Ser1726AlafsTer? | |
| XM_017017789.2:c.6482_6483dup (ATM) | XP_016873278.1:p.Ser2162AlafsTer? | |
| XM_017017790.2:c.6482_6483dup (ATM) | XP_016873279.1:p.Ser2162AlafsTer? | |
| NM_001330368.2:c.641-12258_641-12257dup (C11orf65) | NP_001317297.1:n.641-12258_641-12257dup | |
| NM_001351110.2:c.*39-12258_*39-12257dup (C11orf65) | NP_001338039.1:n.*39-12258_*39-12257dup | |
| NM_001351834.2:c.6482_6483dup (ATM) | NP_001338763.1:p.Ser2162AlafsTer? | |
| NM_000051.4:c.6482_6483dup (ATM) MANE Select | NP_000042.3:p.Ser2162AlafsTer? |