gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108331831_108331833del , CM000673.2:g.108331831_108331833del | GRCh38 |
| NC_000011.9:g.108202558_108202560del , CM000673.1:g.108202558_108202560del | GRCh37 |
| NC_000011.8:g.107707768_107707770del | NCBI36 |
| NG_009830.1:g.114000_114002del , LRG_135:g.114000_114002del | |
| NG_054724.1:g.143002_143004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7630-48_7630-46del (ATM) | ENSP00000388058.2:n.7630-48_7630-46del | |
| ENST00000713593.1:c.*7101-48_*7101-46del (ATM) | ENSP00000518889.1:n.*7101-48_*7101-46del | |
| ENST00000278616.9:c.7630-48_7630-46del (ATM) | ENSP00000278616.4:n.7630-48_7630-46del | |
| ENST00000525056.2:n.2049-48_2049-46del (ATM) | ||
| ENST00000525537.3:n.587-48_587-46del (ATM) | ||
| ENST00000638786.2:n.467-48_467-46del (ATM) | ||
| ENST00000682286.1:n.2387-48_2387-46del (ATM) | ||
| ENST00000682302.1:n.2048-48_2048-46del (ATM) | ||
| ENST00000683174.1:n.9114-48_9114-46del (ATM) | ||
| ENST00000683524.1:n.2854-48_2854-46del (ATM) | ||
| ENST00000684152.1:n.3343+274_3343+276del (ATM) | ||
| ENST00000684447.1:n.2366_2368del (ATM) | ||
| ENST00000527805.6:c.*2694-48_*2694-46del (ATM) | ENSP00000435747.2:n.*2694-48_*2694-46del | |
| ENST00000675595.1:c.*2765-48_*2765-46del (ATM) | ENSP00000502563.1:n.*2765-48_*2765-46del | |
| ENST00000675843.1:c.7630-48_7630-46del (ATM) MANE Select | ENSP00000501606.1:n.7630-48_7630-46del | |
| ENST00000278616.8:c.7630-48_7630-46del (ATM) | ENSP00000278616.4:n.7630-48_7630-46del | |
| ENST00000452508.6:c.7630-48_7630-46del (ATM) | ENSP00000388058.2:n.7630-48_7630-46del | |
| ENST00000524755.5:c.300-264_300-262del (C11orf65) | ||
| ENST00000524792.5:n.3845-48_3845-46del (ATM) | ||
| ENST00000525729.5:c.641-22760_641-22758del (C11orf65) | ENSP00000433395.1:n.641-22760_641-22758del | |
| ENST00000527531.5:c.*1270-264_*1270-262del (C11orf65) | ENSP00000431706.1:n.*1270-264_*1270-262del | |
| ENST00000533690.5:n.3034-48_3034-46del (ATM) | ||
| ENST00000615746.4:c.*1270-264_*1270-262del (C11orf65) | ENSP00000483537.1:n.*1270-264_*1270-262del | |
| NM_000051.3:c.7630-48_7630-46del , LRG_135t1:c.7630-48_7630-46del (ATM) | NP_000042.3:n.7630-48_7630-46del | |
| XM_005271414.3:c.*39-264_*39-262del (C11orf65) | XP_005271471.1:n.*39-264_*39-262del | |
| XM_005271415.3:c.805-264_805-262del (C11orf65) | XP_005271472.1:n.805-264_805-262del | |
| XM_005271561.3:c.7630-48_7630-46del (ATM) | XP_005271618.2:n.7630-48_7630-46del | |
| XM_005271562.3:c.7630-48_7630-46del (ATM) | XP_005271619.2:n.7630-48_7630-46del | |
| XM_006718843.2:c.7630-48_7630-46del (ATM) | XP_006718906.1:n.7630-48_7630-46del | |
| XM_006718845.1:c.3586-48_3586-46del (ATM) | XP_006718908.1:n.3586-48_3586-46del | |
| XM_011542840.1:c.7630-48_7630-46del (ATM) | XP_011541142.1:n.7630-48_7630-46del | |
| XM_011542841.1:c.7630-48_7630-46del (ATM) | XP_011541143.1:n.7630-48_7630-46del | |
| XM_011542842.1:c.7465-48_7465-46del (ATM) | XP_011541144.1:n.7465-48_7465-46del | |
| XM_011542843.1:c.7630-48_7630-46del (ATM) | XP_011541145.1:n.7630-48_7630-46del | |
| XM_011542844.1:c.6586-48_6586-46del (ATM) | XP_011541146.1:n.6586-48_6586-46del | |
| XM_011542845.1:c.6322-48_6322-46del (ATM) | XP_011541147.1:n.6322-48_6322-46del | |
| XM_011542847.1:c.2701-48_2701-46del (ATM) | XP_011541149.1:n.2701-48_2701-46del | |
| NM_001330368.1:c.641-22760_641-22758del (C11orf65) | NP_001317297.1:n.641-22760_641-22758del | |
| NM_001351110.1:c.*38+3389_*38+3391del (C11orf65) | NP_001338039.1:n.*38+3389_*38+3391del | |
| NM_001351834.1:c.7630-48_7630-46del (ATM) | NP_001338763.1:n.7630-48_7630-46del | |
| NR_147053.2:n.2375-264_2375-262del (C11orf65) | ||
| XM_005271414.4:c.*39-264_*39-262del (C11orf65) | XP_005271471.1:n.*39-264_*39-262del | |
| XM_005271415.4:c.805-264_805-262del (C11orf65) | XP_005271472.1:n.805-264_805-262del | |
| XM_005271562.5:c.7630-48_7630-46del (ATM) | XP_005271619.2:n.7630-48_7630-46del | |
| XM_006718843.4:c.7630-48_7630-46del (ATM) | XP_006718906.1:n.7630-48_7630-46del | |
| XM_006718845.2:c.3586-48_3586-46del (ATM) | XP_006718908.1:n.3586-48_3586-46del | |
| XM_011542840.3:c.7630-48_7630-46del (ATM) | XP_011541142.1:n.7630-48_7630-46del | |
| XM_011542842.3:c.7465-48_7465-46del (ATM) | XP_011541144.1:n.7465-48_7465-46del | |
| XM_011542843.2:c.7630-48_7630-46del (ATM) | XP_011541145.1:n.7630-48_7630-46del | |
| XM_011542844.3:c.6586-48_6586-46del (ATM) | XP_011541146.1:n.6586-48_6586-46del | |
| XM_011542845.2:c.6322-48_6322-46del (ATM) | XP_011541147.1:n.6322-48_6322-46del | |
| XM_017017789.2:c.7630-48_7630-46del (ATM) | XP_016873278.1:n.7630-48_7630-46del | |
| XM_017017790.2:c.7630-48_7630-46del (ATM) | XP_016873279.1:n.7630-48_7630-46del | |
| NM_001330368.2:c.641-22760_641-22758del (C11orf65) | NP_001317297.1:n.641-22760_641-22758del | |
| NM_001351110.2:c.*38+3389_*38+3391del (C11orf65) | NP_001338039.1:n.*38+3389_*38+3391del | |
| NM_001351834.2:c.7630-48_7630-46del (ATM) | NP_001338763.1:n.7630-48_7630-46del | |
| NM_000051.4:c.7630-48_7630-46del (ATM) MANE Select | NP_000042.3:n.7630-48_7630-46del | |
| NR_147053.3:n.2373-264_2373-262del (C11orf65) |