Linked Data
dbSNP Id:
rs2085218186
gnomAD v3:
11-108321504-CGGGCA-C
gnomAD v4:
11-108321504-CGGGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108321505_108321509del , CM000673.2:g.108321505_108321509del | GRCh38 |
| NC_000011.9:g.108192232_108192236del , CM000673.1:g.108192232_108192236del | GRCh37 |
| NC_000011.8:g.107697442_107697446del | NCBI36 |
| NG_009830.1:g.103674_103678del , LRG_135:g.103674_103678del | |
| NG_054724.1:g.153324_153328del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6572+85_6572+89del (ATM) | ENSP00000388058.2:n.6572+85_6572+89del | |
| ENST00000713593.1:c.*6043+85_*6043+89del (ATM) | ENSP00000518889.1:n.*6043+85_*6043+89del | |
| ENST00000278616.9:c.6572+85_6572+89del (ATM) | ENSP00000278616.4:n.6572+85_6572+89del | |
| ENST00000525056.2:n.991+85_991+89del (ATM) | ||
| ENST00000682286.1:n.1329+85_1329+89del (ATM) | ||
| ENST00000682302.1:n.990+85_990+89del (ATM) | ||
| ENST00000683174.1:n.8056+85_8056+89del (ATM) | ||
| ENST00000683524.1:n.1796+85_1796+89del (ATM) | ||
| ENST00000684152.1:n.2286+85_2286+89del (ATM) | ||
| ENST00000527805.6:c.*1636+85_*1636+89del (ATM) | ENSP00000435747.2:n.*1636+85_*1636+89del | |
| ENST00000675595.1:c.*1707+85_*1707+89del (ATM) | ENSP00000502563.1:n.*1707+85_*1707+89del | |
| ENST00000675843.1:c.6572+85_6572+89del (ATM) MANE Select | ENSP00000501606.1:n.6572+85_6572+89del | |
| ENST00000278616.8:c.6572+85_6572+89del (ATM) | ENSP00000278616.4:n.6572+85_6572+89del | |
| ENST00000452508.6:c.6572+85_6572+89del (ATM) | ENSP00000388058.2:n.6572+85_6572+89del | |
| ENST00000524792.5:n.2787+85_2787+89del (ATM) | ||
| ENST00000525729.5:c.641-12438_641-12434del (C11orf65) | ENSP00000433395.1:n.641-12438_641-12434del | |
| ENST00000533690.5:n.1976+85_1976+89del (ATM) | ||
| NM_000051.3:c.6572+85_6572+89del , LRG_135t1:c.6572+85_6572+89del (ATM) | NP_000042.3:n.6572+85_6572+89del | |
| XM_005271561.3:c.6572+85_6572+89del (ATM) | XP_005271618.2:n.6572+85_6572+89del | |
| XM_005271562.3:c.6572+85_6572+89del (ATM) | XP_005271619.2:n.6572+85_6572+89del | |
| XM_006718843.2:c.6572+85_6572+89del (ATM) | XP_006718906.1:n.6572+85_6572+89del | |
| XM_006718845.1:c.2528+85_2528+89del (ATM) | XP_006718908.1:n.2528+85_2528+89del | |
| XM_011542840.1:c.6572+85_6572+89del (ATM) | XP_011541142.1:n.6572+85_6572+89del | |
| XM_011542841.1:c.6572+85_6572+89del (ATM) | XP_011541143.1:n.6572+85_6572+89del | |
| XM_011542842.1:c.6407+85_6407+89del (ATM) | XP_011541144.1:n.6407+85_6407+89del | |
| XM_011542843.1:c.6572+85_6572+89del (ATM) | XP_011541145.1:n.6572+85_6572+89del | |
| XM_011542844.1:c.5528+85_5528+89del (ATM) | XP_011541146.1:n.5528+85_5528+89del | |
| XM_011542845.1:c.5264+85_5264+89del (ATM) | XP_011541147.1:n.5264+85_5264+89del | |
| XM_011542847.1:c.1643+85_1643+89del (ATM) | XP_011541149.1:n.1643+85_1643+89del | |
| NM_001330368.1:c.641-12438_641-12434del (C11orf65) | NP_001317297.1:n.641-12438_641-12434del | |
| NM_001351110.1:c.*39-12438_*39-12434del (C11orf65) | NP_001338039.1:n.*39-12438_*39-12434del | |
| NM_001351834.1:c.6572+85_6572+89del (ATM) | NP_001338763.1:n.6572+85_6572+89del | |
| XM_005271562.5:c.6572+85_6572+89del (ATM) | XP_005271619.2:n.6572+85_6572+89del | |
| XM_006718843.4:c.6572+85_6572+89del (ATM) | XP_006718906.1:n.6572+85_6572+89del | |
| XM_006718845.2:c.2528+85_2528+89del (ATM) | XP_006718908.1:n.2528+85_2528+89del | |
| XM_011542840.3:c.6572+85_6572+89del (ATM) | XP_011541142.1:n.6572+85_6572+89del | |
| XM_011542842.3:c.6407+85_6407+89del (ATM) | XP_011541144.1:n.6407+85_6407+89del | |
| XM_011542843.2:c.6572+85_6572+89del (ATM) | XP_011541145.1:n.6572+85_6572+89del | |
| XM_011542844.3:c.5528+85_5528+89del (ATM) | XP_011541146.1:n.5528+85_5528+89del | |
| XM_011542845.2:c.5264+85_5264+89del (ATM) | XP_011541147.1:n.5264+85_5264+89del | |
| XM_017017789.2:c.6572+85_6572+89del (ATM) | XP_016873278.1:n.6572+85_6572+89del | |
| XM_017017790.2:c.6572+85_6572+89del (ATM) | XP_016873279.1:n.6572+85_6572+89del | |
| NM_001330368.2:c.641-12438_641-12434del (C11orf65) | NP_001317297.1:n.641-12438_641-12434del | |
| NM_001351110.2:c.*39-12438_*39-12434del (C11orf65) | NP_001338039.1:n.*39-12438_*39-12434del | |
| NM_001351834.2:c.6572+85_6572+89del (ATM) | NP_001338763.1:n.6572+85_6572+89del | |
| NM_000051.4:c.6572+85_6572+89del (ATM) MANE Select | NP_000042.3:n.6572+85_6572+89del |