Linked Data
ClinVar Variation Id:
231769
dbSNP Id:
rs876659350
gnomAD v3:
11-108333967-AG-A
gnomAD v4:
11-108333967-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108333969del , CM000673.2:g.108333969del | GRCh38 |
| NC_000011.9:g.108204696del , CM000673.1:g.108204696del | GRCh37 |
| NC_000011.8:g.107709906del | NCBI36 |
| NG_009830.1:g.116138del , LRG_135:g.116138del | |
| NG_054724.1:g.140865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8010+1del (ATM) | ||
| ENST00000713593.1:c.*7481+1del (ATM) | ||
| ENST00000278616.9:c.8010+1del (ATM) | ||
| ENST00000525056.2:n.2429+1del (ATM) | ||
| ENST00000638786.2:n.708+1del (ATM) | ||
| ENST00000682286.1:n.2767+1del (ATM) | ||
| ENST00000682302.1:n.2428+1del (ATM) | ||
| ENST00000683174.1:n.9494+1del (ATM) | ||
| ENST00000683524.1:n.3234+1del (ATM) | ||
| ENST00000684152.1:n.3426+1del (ATM) | ||
| ENST00000684180.1:n.484+1del (ATM) | ||
| ENST00000684447.1:n.4503+1del (ATM) | ||
| ENST00000527805.6:c.*3074+1del (ATM) | ||
| ENST00000675595.1:c.*3145+1del (ATM) | ||
| ENST00000675843.1:c.8010+1del (ATM) | ||
| ENST00000278616.8:c.8010+1del (ATM) | ||
| ENST00000452508.6:c.8010+1del (ATM) | ||
| ENST00000524755.5:c.299+1252del (C11orf65) | ||
| ENST00000524792.5:n.4225+1del (ATM) | ||
| ENST00000525056.1:n.207+1del (ATM) | ||
| ENST00000525729.5:c.641-24897del (C11orf65) | ENSP00000433395.1:n.641-24897del | |
| ENST00000527531.5:c.*1269+1252del (C11orf65) | ENSP00000431706.1:n.*1269+1252del | |
| ENST00000533979.5:n.222+1del (ATM) | ||
| ENST00000615746.4:c.*1269+1252del (C11orf65) | ENSP00000483537.1:n.*1269+1252del | |
| NM_000051.3:c.8010+1del , LRG_135t1:c.8010+1del (ATM) | ||
| XM_005271414.3:c.*38+1252del (C11orf65) | XP_005271471.1:n.*38+1252del | |
| XM_005271415.3:c.804+1252del (C11orf65) | XP_005271472.1:n.804+1252del | |
| XM_005271561.3:c.8010+1del (ATM) | ||
| XM_005271562.3:c.8010+1del (ATM) | ||
| XM_006718843.2:c.8010+1del (ATM) | ||
| XM_006718845.1:c.3966+1del (ATM) | ||
| XM_011542840.1:c.8010+1del (ATM) | ||
| XM_011542841.1:c.8010+1del (ATM) | ||
| XM_011542842.1:c.7845+1del (ATM) | ||
| XM_011542843.1:c.8010+1del (ATM) | ||
| XM_011542844.1:c.6966+1del (ATM) | ||
| XM_011542845.1:c.6702+1del (ATM) | ||
| XM_011542847.1:c.3081+1del (ATM) | ||
| NM_001330368.1:c.641-24897del (C11orf65) | NP_001317297.1:n.641-24897del | |
| NM_001351110.1:c.*38+1252del (C11orf65) | NP_001338039.1:n.*38+1252del | |
| NM_001351834.1:c.8010+1del (ATM) | ||
| NR_147053.2:n.2374+1252del (C11orf65) | ||
| XM_005271414.4:c.*38+1252del (C11orf65) | XP_005271471.1:n.*38+1252del | |
| XM_005271415.4:c.804+1252del (C11orf65) | XP_005271472.1:n.804+1252del | |
| XM_005271562.5:c.8010+1del (ATM) | ||
| XM_006718843.4:c.8010+1del (ATM) | ||
| XM_006718845.2:c.3966+1del (ATM) | ||
| XM_011542840.3:c.8010+1del (ATM) | ||
| XM_011542842.3:c.7845+1del (ATM) | ||
| XM_011542843.2:c.8010+1del (ATM) | ||
| XM_011542844.3:c.6966+1del (ATM) | ||
| XM_011542845.2:c.6702+1del (ATM) | ||
| XM_017017789.2:c.8010+1del (ATM) | ||
| XM_017017790.2:c.8010+1del (ATM) | ||
| NM_001330368.2:c.641-24897del (C11orf65) | NP_001317297.1:n.641-24897del | |
| NM_001351110.2:c.*38+1252del (C11orf65) | NP_001338039.1:n.*38+1252del | |
| NM_001351834.2:c.8010+1del (ATM) | ||
| NM_000051.4:c.8010+1del (ATM) | ||
| NR_147053.3:n.2372+1252del (C11orf65) |