ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335846del , CM000673.2:g.108335846del | GRCh38 |
| NC_000011.9:g.108206573del , CM000673.1:g.108206573del | GRCh37 |
| NC_000011.8:g.107711783del | NCBI36 |
| NG_009830.1:g.118015del , LRG_135:g.118015del | |
| NG_054724.1:g.138989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8153del (ATM) | ||
| ENST00000713593.1:c.*7624del (ATM) | ||
| ENST00000278616.9:c.8153del (ATM) | ||
| ENST00000525056.2:n.2572del (ATM) | ||
| ENST00000638786.2:n.851del (ATM) | ||
| ENST00000682286.1:n.2910del (ATM) | ||
| ENST00000682302.1:n.2571del (ATM) | ||
| ENST00000683174.1:n.9637del (ATM) | ||
| ENST00000683524.1:n.3377del (ATM) | ||
| ENST00000684152.1:n.3569del (ATM) | ||
| ENST00000684180.1:n.627del (ATM) | ||
| ENST00000684447.1:n.4646del (ATM) | ||
| ENST00000527805.6:c.*3217del (ATM) | ||
| ENST00000675595.1:c.*3288del (ATM) | ||
| ENST00000675843.1:c.8153del (ATM) | ||
| ENST00000278616.8:c.8153del (ATM) | ||
| ENST00000452508.6:c.8153del (ATM) | ||
| ENST00000524755.5:c.227-552del (C11orf65) | ||
| ENST00000524792.5:n.4368del (ATM) | ||
| ENST00000525056.1:n.350del (ATM) | ||
| ENST00000525729.5:c.641-26773del (C11orf65) | ENSP00000433395.1:n.641-26773del | |
| ENST00000527531.5:c.*1197-552del (C11orf65) | ENSP00000431706.1:n.*1197-552del | |
| ENST00000533979.5:n.365del (ATM) | ||
| ENST00000615746.4:c.*1197-552del (C11orf65) | ENSP00000483537.1:n.*1197-552del | |
| NM_000051.3:c.8153del , LRG_135t1:c.8153del (ATM) | ||
| XM_005271414.3:c.788-552del (C11orf65) | XP_005271471.1:n.788-552del | |
| XM_005271415.3:c.732-552del (C11orf65) | XP_005271472.1:n.732-552del | |
| XM_005271561.3:c.8153del (ATM) | ||
| XM_005271562.3:c.8153del (ATM) | ||
| XM_006718843.2:c.8153del (ATM) | ||
| XM_006718845.1:c.4109del (ATM) | ||
| XM_011542840.1:c.8153del (ATM) | ||
| XM_011542841.1:c.8153del (ATM) | ||
| XM_011542842.1:c.7988del (ATM) | ||
| XM_011542843.1:c.8153del (ATM) | ||
| XM_011542844.1:c.7109del (ATM) | ||
| XM_011542845.1:c.6845del (ATM) | ||
| XM_011542847.1:c.3224del (ATM) | ||
| NM_001330368.1:c.641-26773del (C11orf65) | NP_001317297.1:n.641-26773del | |
| NM_001351110.1:c.695-552del (C11orf65) | NP_001338039.1:n.695-552del | |
| NM_001351834.1:c.8153del (ATM) | ||
| NR_147053.2:n.2302-552del (C11orf65) | ||
| XM_005271414.4:c.788-552del (C11orf65) | XP_005271471.1:n.788-552del | |
| XM_005271415.4:c.732-552del (C11orf65) | XP_005271472.1:n.732-552del | |
| XM_005271562.5:c.8153del (ATM) | ||
| XM_006718843.4:c.8153del (ATM) | ||
| XM_006718845.2:c.4109del (ATM) | ||
| XM_011542840.3:c.8153del (ATM) | ||
| XM_011542842.3:c.7988del (ATM) | ||
| XM_011542843.2:c.8153del (ATM) | ||
| XM_011542844.3:c.7109del (ATM) | ||
| XM_011542845.2:c.6845del (ATM) | ||
| XM_017017789.2:c.8153del (ATM) | ||
| XM_017017790.2:c.8153del (ATM) | ||
| NM_001330368.2:c.641-26773del (C11orf65) | NP_001317297.1:n.641-26773del | |
| NM_001351110.2:c.695-552del (C11orf65) | NP_001338039.1:n.695-552del | |
| NM_001351834.2:c.8153del (ATM) | ||
| NM_000051.4:c.8153del (ATM) | ||
| NR_147053.3:n.2300-552del (C11orf65) |