Linked Data
ClinVar Variation Id:
802787
ClinVar RCV Id:
RCV000988727
dbSNP Id:
rs1591177900
gnomAD v3:
11-108332754-A-T
gnomAD v4:
11-108332754-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332754A>T , CM000673.2:g.108332754A>T | GRCh38 |
| NC_000011.9:g.108203481A>T , CM000673.1:g.108203481A>T | GRCh37 |
| NC_000011.8:g.107708691A>T | NCBI36 |
| NG_009830.1:g.114923A>T , LRG_135:g.114923A>T | |
| NG_054724.1:g.142079T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7789-8A>T (ATM) | ENSP00000388058.2:n.7789-8A>T | |
| ENST00000713593.1:c.*7260-8A>T (ATM) | ENSP00000518889.1:n.*7260-8A>T | |
| ENST00000278616.9:c.7789-8A>T (ATM) | ENSP00000278616.4:n.7789-8A>T | |
| ENST00000525056.2:n.2208-8A>T (ATM) | ||
| ENST00000525537.3:n.1462A>T (ATM) | ||
| ENST00000638786.2:n.625+717A>T (ATM) | ||
| ENST00000682286.1:n.2546-8A>T (ATM) | ||
| ENST00000682302.1:n.2207-8A>T (ATM) | ||
| ENST00000683174.1:n.9273-8A>T (ATM) | ||
| ENST00000683524.1:n.3013-8A>T (ATM) | ||
| ENST00000684152.1:n.3344-1132A>T (ATM) | ||
| ENST00000684180.1:n.255A>T (ATM) | ||
| ENST00000684447.1:n.3289A>T (ATM) | ||
| ENST00000527805.6:c.*2853-8A>T (ATM) | ENSP00000435747.2:n.*2853-8A>T | |
| ENST00000675595.1:c.*2924-8A>T (ATM) | ENSP00000502563.1:n.*2924-8A>T | |
| ENST00000675843.1:c.7789-8A>T (ATM) MANE Select | ENSP00000501606.1:n.7789-8A>T | |
| ENST00000278616.8:c.7789-8A>T (ATM) | ENSP00000278616.4:n.7789-8A>T | |
| ENST00000452508.6:c.7789-8A>T (ATM) | ENSP00000388058.2:n.7789-8A>T | |
| ENST00000524755.5:c.300-1187T>A (C11orf65) | ||
| ENST00000524792.5:n.4004-8A>T (ATM) | ||
| ENST00000525729.5:c.641-23683T>A (C11orf65) | ENSP00000433395.1:n.641-23683T>A | |
| ENST00000527531.5:c.*1270-1187T>A (C11orf65) | ENSP00000431706.1:n.*1270-1187T>A | |
| ENST00000533690.5:n.3193-8A>T (ATM) | ||
| ENST00000615746.4:c.*1270-1187T>A (C11orf65) | ENSP00000483537.1:n.*1270-1187T>A | |
| NM_000051.3:c.7789-8A>T , LRG_135t1:c.7789-8A>T (ATM) | NP_000042.3:n.7789-8A>T | |
| XM_005271414.3:c.*39-1187T>A (C11orf65) | XP_005271471.1:n.*39-1187T>A | |
| XM_005271415.3:c.805-1187T>A (C11orf65) | XP_005271472.1:n.805-1187T>A | |
| XM_005271561.3:c.7789-8A>T (ATM) | XP_005271618.2:n.7789-8A>T | |
| XM_005271562.3:c.7789-8A>T (ATM) | XP_005271619.2:n.7789-8A>T | |
| XM_006718843.2:c.7789-8A>T (ATM) | XP_006718906.1:n.7789-8A>T | |
| XM_006718845.1:c.3745-8A>T (ATM) | XP_006718908.1:n.3745-8A>T | |
| XM_011542840.1:c.7789-8A>T (ATM) | XP_011541142.1:n.7789-8A>T | |
| XM_011542841.1:c.7789-8A>T (ATM) | XP_011541143.1:n.7789-8A>T | |
| XM_011542842.1:c.7624-8A>T (ATM) | XP_011541144.1:n.7624-8A>T | |
| XM_011542843.1:c.7789-8A>T (ATM) | XP_011541145.1:n.7789-8A>T | |
| XM_011542844.1:c.6745-8A>T (ATM) | XP_011541146.1:n.6745-8A>T | |
| XM_011542845.1:c.6481-8A>T (ATM) | XP_011541147.1:n.6481-8A>T | |
| XM_011542847.1:c.2860-8A>T (ATM) | XP_011541149.1:n.2860-8A>T | |
| NM_001330368.1:c.641-23683T>A (C11orf65) | NP_001317297.1:n.641-23683T>A | |
| NM_001351110.1:c.*38+2466T>A (C11orf65) | NP_001338039.1:n.*38+2466T>A | |
| NM_001351834.1:c.7789-8A>T (ATM) | NP_001338763.1:n.7789-8A>T | |
| NR_147053.2:n.2375-1187T>A (C11orf65) | ||
| XM_005271414.4:c.*39-1187T>A (C11orf65) | XP_005271471.1:n.*39-1187T>A | |
| XM_005271415.4:c.805-1187T>A (C11orf65) | XP_005271472.1:n.805-1187T>A | |
| XM_005271562.5:c.7789-8A>T (ATM) | XP_005271619.2:n.7789-8A>T | |
| XM_006718843.4:c.7789-8A>T (ATM) | XP_006718906.1:n.7789-8A>T | |
| XM_006718845.2:c.3745-8A>T (ATM) | XP_006718908.1:n.3745-8A>T | |
| XM_011542840.3:c.7789-8A>T (ATM) | XP_011541142.1:n.7789-8A>T | |
| XM_011542842.3:c.7624-8A>T (ATM) | XP_011541144.1:n.7624-8A>T | |
| XM_011542843.2:c.7789-8A>T (ATM) | XP_011541145.1:n.7789-8A>T | |
| XM_011542844.3:c.6745-8A>T (ATM) | XP_011541146.1:n.6745-8A>T | |
| XM_011542845.2:c.6481-8A>T (ATM) | XP_011541147.1:n.6481-8A>T | |
| XM_017017789.2:c.7789-8A>T (ATM) | XP_016873278.1:n.7789-8A>T | |
| XM_017017790.2:c.7789-8A>T (ATM) | XP_016873279.1:n.7789-8A>T | |
| NM_001330368.2:c.641-23683T>A (C11orf65) | NP_001317297.1:n.641-23683T>A | |
| NM_001351110.2:c.*38+2466T>A (C11orf65) | NP_001338039.1:n.*38+2466T>A | |
| NM_001351834.2:c.7789-8A>T (ATM) | NP_001338763.1:n.7789-8A>T | |
| NM_000051.4:c.7789-8A>T (ATM) MANE Select | NP_000042.3:n.7789-8A>T | |
| NR_147053.3:n.2373-1187T>A (C11orf65) |