Linked Data
ClinVar Variation Id:
302284
dbSNP Id:
rs879796523
gnomAD v2:
11-108238842-T-C
gnomAD v3:
11-108368115-T-C
gnomAD v4:
11-108368115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108368115T>C , CM000673.2:g.108368115T>C | GRCh38 |
| NC_000011.9:g.108238842T>C , CM000673.1:g.108238842T>C | GRCh37 |
| NC_000011.8:g.107744052T>C | NCBI36 |
| NG_009830.1:g.150284T>C , LRG_135:g.150284T>C | |
| NG_054724.1:g.106718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.*2607T>C (ATM) | ENSP00000388058.2:n.*2607T>C | |
| ENST00000713593.1:c.*11249T>C (ATM) | ENSP00000518889.1:n.*11249T>C | |
| ENST00000278616.9:c.*2314T>C (ATM) | ENSP00000278616.4:n.*2314T>C | |
| ENST00000638786.1:n.669-164T>C (ATM) | ||
| ENST00000675843.1:c.*2607T>C (ATM) MANE Select | ENSP00000501606.1:n.*2607T>C | |
| ENST00000278616.8:c.*2607T>C (ATM) | ENSP00000278616.4:n.*2607T>C | |
| ENST00000452508.6:c.*2607T>C (ATM) | ENSP00000388058.2:n.*2607T>C | |
| ENST00000524755.5:c.226+25093A>G (C11orf65) | ||
| ENST00000525729.5:c.640+17805A>G (C11orf65) | ENSP00000433395.1:n.640+17805A>G | |
| ENST00000526725.1:n.271+25093A>G (C11orf65) | ||
| ENST00000527531.5:c.*2-12006A>G (C11orf65) | ENSP00000431706.1:n.*2-12006A>G | |
| ENST00000615746.4:c.*2-12006A>G (C11orf65) | ENSP00000483537.1:n.*2-12006A>G | |
| NM_000051.3:c.*2607T>C , LRG_135t1:c.*2607T>C (ATM) | NP_000042.3:n.*2607T>C | |
| XM_005271414.3:c.787+17805A>G (C11orf65) | XP_005271471.1:n.787+17805A>G | |
| XM_005271415.3:c.731+25093A>G (C11orf65) | XP_005271472.1:n.731+25093A>G | |
| XM_005271561.3:c.*2607T>C (ATM) | XP_005271618.2:n.*2607T>C | |
| XM_005271562.3:c.*2607T>C (ATM) | XP_005271619.2:n.*2607T>C | |
| XM_006718843.2:c.*2607T>C (ATM) | XP_006718906.1:n.*2607T>C | |
| XM_006718845.1:c.*2607T>C (ATM) | XP_006718908.1:n.*2607T>C | |
| XM_011542640.1:c.787+17805A>G (C11orf65) | XP_011540942.1:n.787+17805A>G | |
| XM_011542642.1:c.732-19042A>G (C11orf65) | XP_011540944.1:n.732-19042A>G | |
| XM_011542643.1:c.731+25093A>G (C11orf65) | XP_011540945.1:n.731+25093A>G | |
| XM_011542840.1:c.*2607T>C (ATM) | XP_011541142.1:n.*2607T>C | |
| XM_011542841.1:c.*2607T>C (ATM) | XP_011541143.1:n.*2607T>C | |
| XM_011542842.1:c.*2607T>C (ATM) | XP_011541144.1:n.*2607T>C | |
| XM_011542844.1:c.*2607T>C (ATM) | XP_011541146.1:n.*2607T>C | |
| XM_011542845.1:c.*2607T>C (ATM) | XP_011541147.1:n.*2607T>C | |
| XM_011542847.1:c.*2607T>C (ATM) | XP_011541149.1:n.*2607T>C | |
| NM_001330368.1:c.640+17805A>G (C11orf65) | NP_001317297.1:n.640+17805A>G | |
| NM_001351110.1:c.694+17805A>G (C11orf65) | NP_001338039.1:n.694+17805A>G | |
| NM_001351834.1:c.*2607T>C (ATM) | NP_001338763.1:n.*2607T>C | |
| NR_147053.2:n.1107-12006A>G (C11orf65) | ||
| XM_005271414.4:c.787+17805A>G (C11orf65) | XP_005271471.1:n.787+17805A>G | |
| XM_005271415.4:c.731+25093A>G (C11orf65) | XP_005271472.1:n.731+25093A>G | |
| XM_011542640.2:c.787+17805A>G (C11orf65) | XP_011540942.1:n.787+17805A>G | |
| XM_011542643.2:c.731+25093A>G (C11orf65) | XP_011540945.1:n.731+25093A>G | |
| XM_017017247.1:c.903+14945A>G (C11orf65) | XP_016872736.1:n.903+14945A>G | |
| NM_001330368.2:c.640+17805A>G (C11orf65) | NP_001317297.1:n.640+17805A>G | |
| NM_001351110.2:c.694+17805A>G (C11orf65) | NP_001338039.1:n.694+17805A>G | |
| NM_001351834.2:c.*2607T>C (ATM) | NP_001338763.1:n.*2607T>C | |
| NM_000051.4:c.*2607T>C (ATM) MANE Select | NP_000042.3:n.*2607T>C | |
| NR_147053.3:n.1105-12006A>G (C11orf65) |