Linked Data
ClinVar Variation Id:
923794
dbSNP Id:
rs777468149
ExAC:
11:108180864 CATT / C
gnomAD v2:
11-108180864-CATT-C
gnomAD v4:
11-108310137-CATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310140_108310142del , CM000673.2:g.108310140_108310142del | GRCh38 |
| NC_000011.9:g.108180867_108180869del , CM000673.1:g.108180867_108180869del | GRCh37 |
| NC_000011.8:g.107686077_107686079del | NCBI36 |
| NG_009830.1:g.92309_92311del , LRG_135:g.92309_92311del | |
| NG_054724.1:g.164693_164695del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5763-20_5763-18del (ATM) | ENSP00000388058.2:n.5763-20_5763-18del | |
| ENST00000713593.1:c.*5234-20_*5234-18del (ATM) | ENSP00000518889.1:n.*5234-20_*5234-18del | |
| ENST00000278616.9:c.5763-20_5763-18del (ATM) | ENSP00000278616.4:n.5763-20_5763-18del | |
| ENST00000525056.2:n.182-20_182-18del (ATM) | ||
| ENST00000682286.1:n.520-20_520-18del (ATM) | ||
| ENST00000682302.1:n.181-20_181-18del (ATM) | ||
| ENST00000683174.1:n.7247-20_7247-18del (ATM) | ||
| ENST00000683524.1:n.987-20_987-18del (ATM) | ||
| ENST00000684152.1:n.1477-20_1477-18del (ATM) | ||
| ENST00000527805.6:c.*827-20_*827-18del (ATM) | ENSP00000435747.2:n.*827-20_*827-18del | |
| ENST00000675595.1:c.*827-20_*827-18del (ATM) | ENSP00000502563.1:n.*827-20_*827-18del | |
| ENST00000675843.1:c.5763-20_5763-18del (ATM) MANE Select | ENSP00000501606.1:n.5763-20_5763-18del | |
| ENST00000278616.8:c.5763-20_5763-18del (ATM) | ENSP00000278616.4:n.5763-20_5763-18del | |
| ENST00000452508.6:c.5763-20_5763-18del (ATM) | ENSP00000388058.2:n.5763-20_5763-18del | |
| ENST00000524792.5:n.1978-20_1978-18del (ATM) | ||
| ENST00000525729.5:c.641-1069_641-1067del (C11orf65) | ENSP00000433395.1:n.641-1069_641-1067del | |
| ENST00000529588.5:c.187-20_187-18del (ATM) | ||
| ENST00000532765.1:n.80-20_80-18del (ATM) | ||
| ENST00000533690.5:n.1167-20_1167-18del (ATM) | ||
| NM_000051.3:c.5763-20_5763-18del , LRG_135t1:c.5763-20_5763-18del (ATM) | NP_000042.3:n.5763-20_5763-18del | |
| XM_005271561.3:c.5763-20_5763-18del (ATM) | XP_005271618.2:n.5763-20_5763-18del | |
| XM_005271562.3:c.5763-20_5763-18del (ATM) | XP_005271619.2:n.5763-20_5763-18del | |
| XM_006718843.2:c.5763-20_5763-18del (ATM) | XP_006718906.1:n.5763-20_5763-18del | |
| XM_006718845.1:c.1719-20_1719-18del (ATM) | XP_006718908.1:n.1719-20_1719-18del | |
| XM_011542840.1:c.5763-20_5763-18del (ATM) | XP_011541142.1:n.5763-20_5763-18del | |
| XM_011542841.1:c.5763-20_5763-18del (ATM) | XP_011541143.1:n.5763-20_5763-18del | |
| XM_011542842.1:c.5598-20_5598-18del (ATM) | XP_011541144.1:n.5598-20_5598-18del | |
| XM_011542843.1:c.5763-20_5763-18del (ATM) | XP_011541145.1:n.5763-20_5763-18del | |
| XM_011542844.1:c.4719-20_4719-18del (ATM) | XP_011541146.1:n.4719-20_4719-18del | |
| XM_011542845.1:c.4455-20_4455-18del (ATM) | XP_011541147.1:n.4455-20_4455-18del | |
| XM_011542847.1:c.834-20_834-18del (ATM) | XP_011541149.1:n.834-20_834-18del | |
| NM_001330368.1:c.641-1069_641-1067del (C11orf65) | NP_001317297.1:n.641-1069_641-1067del | |
| NM_001351110.1:c.*39-1069_*39-1067del (C11orf65) | NP_001338039.1:n.*39-1069_*39-1067del | |
| NM_001351834.1:c.5763-20_5763-18del (ATM) | NP_001338763.1:n.5763-20_5763-18del | |
| XM_005271562.5:c.5763-20_5763-18del (ATM) | XP_005271619.2:n.5763-20_5763-18del | |
| XM_006718843.4:c.5763-20_5763-18del (ATM) | XP_006718906.1:n.5763-20_5763-18del | |
| XM_006718845.2:c.1719-20_1719-18del (ATM) | XP_006718908.1:n.1719-20_1719-18del | |
| XM_011542840.3:c.5763-20_5763-18del (ATM) | XP_011541142.1:n.5763-20_5763-18del | |
| XM_011542842.3:c.5598-20_5598-18del (ATM) | XP_011541144.1:n.5598-20_5598-18del | |
| XM_011542843.2:c.5763-20_5763-18del (ATM) | XP_011541145.1:n.5763-20_5763-18del | |
| XM_011542844.3:c.4719-20_4719-18del (ATM) | XP_011541146.1:n.4719-20_4719-18del | |
| XM_011542845.2:c.4455-20_4455-18del (ATM) | XP_011541147.1:n.4455-20_4455-18del | |
| XM_017017789.2:c.5763-20_5763-18del (ATM) | XP_016873278.1:n.5763-20_5763-18del | |
| XM_017017790.2:c.5763-20_5763-18del (ATM) | XP_016873279.1:n.5763-20_5763-18del | |
| XM_017017791.1:c.5763-20_5763-18del (ATM) | XP_016873280.1:n.5763-20_5763-18del | |
| XR_002957150.1:n.6363-20_6363-18del (ATM) | ||
| NM_001330368.2:c.641-1069_641-1067del (C11orf65) | NP_001317297.1:n.641-1069_641-1067del | |
| NM_001351110.2:c.*39-1069_*39-1067del (C11orf65) | NP_001338039.1:n.*39-1069_*39-1067del | |
| NM_001351834.2:c.5763-20_5763-18del (ATM) | NP_001338763.1:n.5763-20_5763-18del | |
| NM_000051.4:c.5763-20_5763-18del (ATM) MANE Select | NP_000042.3:n.5763-20_5763-18del |