Linked Data
ClinVar Variation Id:
453604
dbSNP Id:
rs1401825950
gnomAD v2:
11-108181050-A-C
gnomAD v3:
11-108310323-A-C
gnomAD v4:
11-108310323-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310323A>C , CM000673.2:g.108310323A>C | GRCh38 |
| NC_000011.9:g.108181050A>C , CM000673.1:g.108181050A>C | GRCh37 |
| NC_000011.8:g.107686260A>C | NCBI36 |
| NG_009830.1:g.92492A>C , LRG_135:g.92492A>C | |
| NG_054724.1:g.164510T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5918+8A>C (ATM) | ENSP00000388058.2:n.5918+8A>C | |
| ENST00000713593.1:c.*5389+8A>C (ATM) | ENSP00000518889.1:n.*5389+8A>C | |
| ENST00000278616.9:c.5918+8A>C (ATM) | ENSP00000278616.4:n.5918+8A>C | |
| ENST00000525056.2:n.337+8A>C (ATM) | ||
| ENST00000682286.1:n.675+8A>C (ATM) | ||
| ENST00000682302.1:n.336+8A>C (ATM) | ||
| ENST00000683174.1:n.7402+8A>C (ATM) | ||
| ENST00000683524.1:n.1142+8A>C (ATM) | ||
| ENST00000684152.1:n.1632+8A>C (ATM) | ||
| ENST00000527805.6:c.*982+8A>C (ATM) | ENSP00000435747.2:n.*982+8A>C | |
| ENST00000675595.1:c.*982+8A>C (ATM) | ENSP00000502563.1:n.*982+8A>C | |
| ENST00000675843.1:c.5918+8A>C (ATM) MANE Select | ENSP00000501606.1:n.5918+8A>C | |
| ENST00000278616.8:c.5918+8A>C (ATM) | ENSP00000278616.4:n.5918+8A>C | |
| ENST00000452508.6:c.5918+8A>C (ATM) | ENSP00000388058.2:n.5918+8A>C | |
| ENST00000524792.5:n.2133+8A>C (ATM) | ||
| ENST00000525729.5:c.641-1252T>G (C11orf65) | ENSP00000433395.1:n.641-1252T>G | |
| ENST00000529588.5:c.342+8A>C (ATM) | ||
| ENST00000532765.1:n.235+8A>C (ATM) | ||
| ENST00000533690.5:n.1322+8A>C (ATM) | ||
| NM_000051.3:c.5918+8A>C , LRG_135t1:c.5918+8A>C (ATM) | NP_000042.3:n.5918+8A>C | |
| XM_005271561.3:c.5918+8A>C (ATM) | XP_005271618.2:n.5918+8A>C | |
| XM_005271562.3:c.5918+8A>C (ATM) | XP_005271619.2:n.5918+8A>C | |
| XM_006718843.2:c.5918+8A>C (ATM) | XP_006718906.1:n.5918+8A>C | |
| XM_006718845.1:c.1874+8A>C (ATM) | XP_006718908.1:n.1874+8A>C | |
| XM_011542840.1:c.5918+8A>C (ATM) | XP_011541142.1:n.5918+8A>C | |
| XM_011542841.1:c.5918+8A>C (ATM) | XP_011541143.1:n.5918+8A>C | |
| XM_011542842.1:c.5753+8A>C (ATM) | XP_011541144.1:n.5753+8A>C | |
| XM_011542843.1:c.5918+8A>C (ATM) | XP_011541145.1:n.5918+8A>C | |
| XM_011542844.1:c.4874+8A>C (ATM) | XP_011541146.1:n.4874+8A>C | |
| XM_011542845.1:c.4610+8A>C (ATM) | XP_011541147.1:n.4610+8A>C | |
| XM_011542847.1:c.989+8A>C (ATM) | XP_011541149.1:n.989+8A>C | |
| NM_001330368.1:c.641-1252T>G (C11orf65) | NP_001317297.1:n.641-1252T>G | |
| NM_001351110.1:c.*39-1252T>G (C11orf65) | NP_001338039.1:n.*39-1252T>G | |
| NM_001351834.1:c.5918+8A>C (ATM) | NP_001338763.1:n.5918+8A>C | |
| XM_005271562.5:c.5918+8A>C (ATM) | XP_005271619.2:n.5918+8A>C | |
| XM_006718843.4:c.5918+8A>C (ATM) | XP_006718906.1:n.5918+8A>C | |
| XM_006718845.2:c.1874+8A>C (ATM) | XP_006718908.1:n.1874+8A>C | |
| XM_011542840.3:c.5918+8A>C (ATM) | XP_011541142.1:n.5918+8A>C | |
| XM_011542842.3:c.5753+8A>C (ATM) | XP_011541144.1:n.5753+8A>C | |
| XM_011542843.2:c.5918+8A>C (ATM) | XP_011541145.1:n.5918+8A>C | |
| XM_011542844.3:c.4874+8A>C (ATM) | XP_011541146.1:n.4874+8A>C | |
| XM_011542845.2:c.4610+8A>C (ATM) | XP_011541147.1:n.4610+8A>C | |
| XM_017017789.2:c.5918+8A>C (ATM) | XP_016873278.1:n.5918+8A>C | |
| XM_017017790.2:c.5918+8A>C (ATM) | XP_016873279.1:n.5918+8A>C | |
| XM_017017791.1:c.5918+8A>C (ATM) | XP_016873280.1:n.5918+8A>C | |
| XR_002957150.1:n.6518+8A>C (ATM) | ||
| NM_001330368.2:c.641-1252T>G (C11orf65) | NP_001317297.1:n.641-1252T>G | |
| NM_001351110.2:c.*39-1252T>G (C11orf65) | NP_001338039.1:n.*39-1252T>G | |
| NM_001351834.2:c.5918+8A>C (ATM) | NP_001338763.1:n.5918+8A>C | |
| NM_000051.4:c.5918+8A>C (ATM) MANE Select | NP_000042.3:n.5918+8A>C |