Linked Data
ClinVar Variation Id:
490656
ClinVar RCV Id:
RCV000581403
dbSNP Id:
rs756886791
ExAC:
11:108190805 T / TTA
gnomAD v2:
11-108190805-T-TTA
gnomAD v3:
11-108320078-T-TTA
gnomAD v4:
11-108320078-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108320079_108320080dup , CM000673.2:g.108320079_108320080dup | GRCh38 |
| NC_000011.9:g.108190806_108190807dup , CM000673.1:g.108190806_108190807dup | GRCh37 |
| NC_000011.8:g.107696016_107696017dup | NCBI36 |
| NG_009830.1:g.102248_102249dup , LRG_135:g.102248_102249dup | |
| NG_054724.1:g.154753_154754dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6452+21_6452+22dup (ATM) | ENSP00000388058.2:n.6452+21_6452+22dup | |
| ENST00000713593.1:c.*5923+21_*5923+22dup (ATM) | ENSP00000518889.1:n.*5923+21_*5923+22dup | |
| ENST00000278616.9:c.6452+21_6452+22dup (ATM) | ENSP00000278616.4:n.6452+21_6452+22dup | |
| ENST00000525056.2:n.871+21_871+22dup (ATM) | ||
| ENST00000682286.1:n.1209+21_1209+22dup (ATM) | ||
| ENST00000682302.1:n.870+21_870+22dup (ATM) | ||
| ENST00000683174.1:n.7936+21_7936+22dup (ATM) | ||
| ENST00000683524.1:n.1676+21_1676+22dup (ATM) | ||
| ENST00000684152.1:n.2166+21_2166+22dup (ATM) | ||
| ENST00000527805.6:c.*1516+21_*1516+22dup (ATM) | ENSP00000435747.2:n.*1516+21_*1516+22dup | |
| ENST00000675595.1:c.*1516+21_*1516+22dup (ATM) | ENSP00000502563.1:n.*1516+21_*1516+22dup | |
| ENST00000675843.1:c.6452+21_6452+22dup (ATM) MANE Select | ENSP00000501606.1:n.6452+21_6452+22dup | |
| ENST00000278616.8:c.6452+21_6452+22dup (ATM) | ENSP00000278616.4:n.6452+21_6452+22dup | |
| ENST00000452508.6:c.6452+21_6452+22dup (ATM) | ENSP00000388058.2:n.6452+21_6452+22dup | |
| ENST00000524792.5:n.2667+21_2667+22dup (ATM) | ||
| ENST00000525729.5:c.641-11009_641-11008dup (C11orf65) | ENSP00000433395.1:n.641-11009_641-11008dup | |
| ENST00000533690.5:n.1856+21_1856+22dup (ATM) | ||
| NM_000051.3:c.6452+21_6452+22dup , LRG_135t1:c.6452+21_6452+22dup (ATM) | NP_000042.3:n.6452+21_6452+22dup | |
| XM_005271561.3:c.6452+21_6452+22dup (ATM) | XP_005271618.2:n.6452+21_6452+22dup | |
| XM_005271562.3:c.6452+21_6452+22dup (ATM) | XP_005271619.2:n.6452+21_6452+22dup | |
| XM_006718843.2:c.6452+21_6452+22dup (ATM) | XP_006718906.1:n.6452+21_6452+22dup | |
| XM_006718845.1:c.2408+21_2408+22dup (ATM) | XP_006718908.1:n.2408+21_2408+22dup | |
| XM_011542840.1:c.6452+21_6452+22dup (ATM) | XP_011541142.1:n.6452+21_6452+22dup | |
| XM_011542841.1:c.6452+21_6452+22dup (ATM) | XP_011541143.1:n.6452+21_6452+22dup | |
| XM_011542842.1:c.6287+21_6287+22dup (ATM) | XP_011541144.1:n.6287+21_6287+22dup | |
| XM_011542843.1:c.6452+21_6452+22dup (ATM) | XP_011541145.1:n.6452+21_6452+22dup | |
| XM_011542844.1:c.5408+21_5408+22dup (ATM) | XP_011541146.1:n.5408+21_5408+22dup | |
| XM_011542845.1:c.5144+21_5144+22dup (ATM) | XP_011541147.1:n.5144+21_5144+22dup | |
| XM_011542847.1:c.1523+21_1523+22dup (ATM) | XP_011541149.1:n.1523+21_1523+22dup | |
| NM_001330368.1:c.641-11009_641-11008dup (C11orf65) | NP_001317297.1:n.641-11009_641-11008dup | |
| NM_001351110.1:c.*39-11009_*39-11008dup (C11orf65) | NP_001338039.1:n.*39-11009_*39-11008dup | |
| NM_001351834.1:c.6452+21_6452+22dup (ATM) | NP_001338763.1:n.6452+21_6452+22dup | |
| XM_005271562.5:c.6452+21_6452+22dup (ATM) | XP_005271619.2:n.6452+21_6452+22dup | |
| XM_006718843.4:c.6452+21_6452+22dup (ATM) | XP_006718906.1:n.6452+21_6452+22dup | |
| XM_006718845.2:c.2408+21_2408+22dup (ATM) | XP_006718908.1:n.2408+21_2408+22dup | |
| XM_011542840.3:c.6452+21_6452+22dup (ATM) | XP_011541142.1:n.6452+21_6452+22dup | |
| XM_011542842.3:c.6287+21_6287+22dup (ATM) | XP_011541144.1:n.6287+21_6287+22dup | |
| XM_011542843.2:c.6452+21_6452+22dup (ATM) | XP_011541145.1:n.6452+21_6452+22dup | |
| XM_011542844.3:c.5408+21_5408+22dup (ATM) | XP_011541146.1:n.5408+21_5408+22dup | |
| XM_011542845.2:c.5144+21_5144+22dup (ATM) | XP_011541147.1:n.5144+21_5144+22dup | |
| XM_017017789.2:c.6452+21_6452+22dup (ATM) | XP_016873278.1:n.6452+21_6452+22dup | |
| XM_017017790.2:c.6452+21_6452+22dup (ATM) | XP_016873279.1:n.6452+21_6452+22dup | |
| XM_017017791.1:c.6452+21_6452+22dup (ATM) | XP_016873280.1:n.6452+21_6452+22dup | |
| NM_001330368.2:c.641-11009_641-11008dup (C11orf65) | NP_001317297.1:n.641-11009_641-11008dup | |
| NM_001351110.2:c.*39-11009_*39-11008dup (C11orf65) | NP_001338039.1:n.*39-11009_*39-11008dup | |
| NM_001351834.2:c.6452+21_6452+22dup (ATM) | NP_001338763.1:n.6452+21_6452+22dup | |
| NM_000051.4:c.6452+21_6452+22dup (ATM) MANE Select | NP_000042.3:n.6452+21_6452+22dup |