Linked Data
ClinVar Variation Id:
142250
dbSNP Id:
rs587782335
ExAC:
11:108225605 A / C
gnomAD v2:
11-108225605-A-C
gnomAD v3:
11-108354878-A-C
gnomAD v4:
11-108354878-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108354878A>C , CM000673.2:g.108354878A>C | GRCh38 |
| NC_000011.9:g.108225605A>C , CM000673.1:g.108225605A>C | GRCh37 |
| NC_000011.8:g.107730815A>C | NCBI36 |
| NG_009830.1:g.137047A>C , LRG_135:g.137047A>C | |
| NG_054724.1:g.119955T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8850+4A>C (ATM) | ENSP00000388058.2:n.8850+4A>C | |
| ENST00000713593.1:c.*8321+4A>C (ATM) | ENSP00000518889.1:n.*8321+4A>C | |
| ENST00000278616.9:c.8850+4A>C (ATM) | ENSP00000278616.4:n.8850+4A>C | |
| ENST00000638786.2:n.1548+4A>C (ATM) | ||
| ENST00000682286.1:n.3607+4A>C (ATM) | ||
| ENST00000682302.1:n.3268+4A>C (ATM) | ||
| ENST00000683174.1:n.10334+4A>C (ATM) | ||
| ENST00000683524.1:n.4074+4A>C (ATM) | ||
| ENST00000684152.1:n.4266+4A>C (ATM) | ||
| ENST00000684180.1:n.1324+4A>C (ATM) | ||
| ENST00000684447.1:n.5343+4A>C (ATM) | ||
| ENST00000527805.6:c.*3914+4A>C (ATM) | ENSP00000435747.2:n.*3914+4A>C | |
| ENST00000675595.1:c.*3985+4A>C (ATM) | ENSP00000502563.1:n.*3985+4A>C | |
| ENST00000675843.1:c.8850+4A>C (ATM) MANE Select | ENSP00000501606.1:n.8850+4A>C | |
| ENST00000278616.8:c.8850+4A>C (ATM) | ENSP00000278616.4:n.8850+4A>C | |
| ENST00000452508.6:c.8850+4A>C (ATM) | ENSP00000388058.2:n.8850+4A>C | |
| ENST00000524755.5:c.227-19586T>G (C11orf65) | ||
| ENST00000524792.5:n.5065+4A>C (ATM) | ||
| ENST00000525178.5:n.338+4A>C (ATM) | ||
| ENST00000525729.5:c.640+31042T>G (C11orf65) | ENSP00000433395.1:n.640+31042T>G | |
| ENST00000526725.1:n.272-14514T>G (C11orf65) | ||
| ENST00000527181.1:n.189+4A>C (ATM) | ||
| ENST00000527531.5:c.*1196+37T>G (C11orf65) | ENSP00000431706.1:n.*1196+37T>G | |
| ENST00000615746.4:c.*1196+37T>G (C11orf65) | ENSP00000483537.1:n.*1196+37T>G | |
| NM_000051.3:c.8850+4A>C , LRG_135t1:c.8850+4A>C (ATM) | NP_000042.3:n.8850+4A>C | |
| XM_005271414.3:c.788-19586T>G (C11orf65) | XP_005271471.1:n.788-19586T>G | |
| XM_005271415.3:c.732-19586T>G (C11orf65) | XP_005271472.1:n.732-19586T>G | |
| XM_005271561.3:c.8850+4A>C (ATM) | XP_005271618.2:n.8850+4A>C | |
| XM_005271562.3:c.8850+4A>C (ATM) | XP_005271619.2:n.8850+4A>C | |
| XM_006718843.2:c.8850+4A>C (ATM) | XP_006718906.1:n.8850+4A>C | |
| XM_006718845.1:c.4806+4A>C (ATM) | XP_006718908.1:n.4806+4A>C | |
| XM_011542640.1:c.788-14514T>G (C11orf65) | XP_011540942.1:n.788-14514T>G | |
| XM_011542642.1:c.732-5805T>G (C11orf65) | XP_011540944.1:n.732-5805T>G | |
| XM_011542643.1:c.732-14514T>G (C11orf65) | XP_011540945.1:n.732-14514T>G | |
| XM_011542840.1:c.8850+4A>C (ATM) | XP_011541142.1:n.8850+4A>C | |
| XM_011542841.1:c.8850+4A>C (ATM) | XP_011541143.1:n.8850+4A>C | |
| XM_011542842.1:c.8685+4A>C (ATM) | XP_011541144.1:n.8685+4A>C | |
| XM_011542844.1:c.7806+4A>C (ATM) | XP_011541146.1:n.7806+4A>C | |
| XM_011542845.1:c.7542+4A>C (ATM) | XP_011541147.1:n.7542+4A>C | |
| XM_011542847.1:c.3921+4A>C (ATM) | XP_011541149.1:n.3921+4A>C | |
| NM_001330368.1:c.640+31042T>G (C11orf65) | NP_001317297.1:n.640+31042T>G | |
| NM_001351110.1:c.695-19586T>G (C11orf65) | NP_001338039.1:n.695-19586T>G | |
| NM_001351834.1:c.8850+4A>C (ATM) | NP_001338763.1:n.8850+4A>C | |
| NR_147053.2:n.2301+37T>G (C11orf65) | ||
| XM_005271414.4:c.788-19586T>G (C11orf65) | XP_005271471.1:n.788-19586T>G | |
| XM_005271415.4:c.732-19586T>G (C11orf65) | XP_005271472.1:n.732-19586T>G | |
| XM_005271562.5:c.8850+4A>C (ATM) | XP_005271619.2:n.8850+4A>C | |
| XM_006718843.4:c.8850+4A>C (ATM) | XP_006718906.1:n.8850+4A>C | |
| XM_006718845.2:c.4806+4A>C (ATM) | XP_006718908.1:n.4806+4A>C | |
| XM_011542640.2:c.788-14514T>G (C11orf65) | XP_011540942.1:n.788-14514T>G | |
| XM_011542643.2:c.732-14514T>G (C11orf65) | XP_011540945.1:n.732-14514T>G | |
| XM_011542840.3:c.8850+4A>C (ATM) | XP_011541142.1:n.8850+4A>C | |
| XM_011542842.3:c.8685+4A>C (ATM) | XP_011541144.1:n.8685+4A>C | |
| XM_011542844.3:c.7806+4A>C (ATM) | XP_011541146.1:n.7806+4A>C | |
| XM_011542845.2:c.7542+4A>C (ATM) | XP_011541147.1:n.7542+4A>C | |
| XM_017017247.1:c.904-14514T>G (C11orf65) | XP_016872736.1:n.904-14514T>G | |
| XM_017017789.2:c.8850+4A>C (ATM) | XP_016873278.1:n.8850+4A>C | |
| XM_017017790.2:c.8850+4A>C (ATM) | XP_016873279.1:n.8850+4A>C | |
| NM_001330368.2:c.640+31042T>G (C11orf65) | NP_001317297.1:n.640+31042T>G | |
| NM_001351110.2:c.695-19586T>G (C11orf65) | NP_001338039.1:n.695-19586T>G | |
| NM_001351834.2:c.8850+4A>C (ATM) | NP_001338763.1:n.8850+4A>C | |
| NM_000051.4:c.8850+4A>C (ATM) MANE Select | NP_000042.3:n.8850+4A>C | |
| NR_147053.3:n.2299+37T>G (C11orf65) |