Canonical Allele Identifier: CA2825001787
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 3148335
ClinVar RCV Id: RCV004440240

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108256199_108256218delinsCAAATTTATATT , CM000673.2:g.108256199_108256218delinsCAAATTTATATT GRCh38
NC_000011.9:g.108126926_108126945delinsCAAATTTATATT , CM000673.1:g.108126926_108126945delinsCAAATTTATATT GRCh37
NC_000011.8:g.107632136_107632155delinsCAAATTTATATT NCBI36
NG_009830.1:g.38368_38387delinsCAAATTTATATT , LRG_135:g.38368_38387delinsCAAATTTATATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2125-16_2128delinsCAAATTTATATT
ENST00000713593.1:c.*1596-16_*1599delinsCAAATTTATATT
ENST00000278616.9:c.2125-16_2128delinsCAAATTTATATT
ENST00000682516.1:n.2259-16_2262delinsCAAATTTATATT
ENST00000683174.1:n.2275-16_2278delinsCAAATTTATATT
ENST00000683605.1:n.1620-16_1623delinsCAAATTTATATT
ENST00000684037.1:c.*1060-16_*1063delinsCAAATTTATATT
ENST00000684061.1:n.2259-16_2262delinsCAAATTTATATT
ENST00000527805.6:c.2125-16_2128delinsCAAATTTATATT
ENST00000675595.1:c.1960-16_1963delinsCAAATTTATATT
ENST00000675843.1:c.2125-16_2128delinsCAAATTTATATT
ENST00000278616.8:c.2125-16_2128delinsCAAATTTATATT
ENST00000452508.6:c.2125-16_2128delinsCAAATTTATATT
ENST00000527805.5:c.2125-16_2128delinsCAAATTTATATT
NM_000051.3:c.2125-16_2128delinsCAAATTTATATT , LRG_135t1:c.2125-16_2128delinsCAAATTTATATT
XM_005271561.3:c.2125-16_2128delinsCAAATTTATATT
XM_005271562.3:c.2125-16_2128delinsCAAATTTATATT
XM_006718843.2:c.2125-16_2128delinsCAAATTTATATT
XM_011542840.1:c.2125-16_2128delinsCAAATTTATATT
XM_011542841.1:c.2125-16_2128delinsCAAATTTATATT
XM_011542842.1:c.1960-16_1963delinsCAAATTTATATT
XM_011542843.1:c.2125-16_2128delinsCAAATTTATATT
XM_011542844.1:c.1081-16_1084delinsCAAATTTATATT
XM_011542845.1:c.817-16_820delinsCAAATTTATATT
XM_011542846.1:c.2125-16_2128delinsCAAATTTATATT
NM_001351834.1:c.2125-16_2128delinsCAAATTTATATT
XM_005271562.5:c.2125-16_2128delinsCAAATTTATATT
XM_006718843.4:c.2125-16_2128delinsCAAATTTATATT
XM_011542840.3:c.2125-16_2128delinsCAAATTTATATT
XM_011542842.3:c.1960-16_1963delinsCAAATTTATATT
XM_011542843.2:c.2125-16_2128delinsCAAATTTATATT
XM_011542844.3:c.1081-16_1084delinsCAAATTTATATT
XM_011542845.2:c.817-16_820delinsCAAATTTATATT
XM_017017789.2:c.2125-16_2128delinsCAAATTTATATT
XM_017017790.2:c.2125-16_2128delinsCAAATTTATATT
XM_017017791.1:c.2125-16_2128delinsCAAATTTATATT
XM_017017792.2:c.2125-16_2128delinsCAAATTTATATT
XR_002957150.1:n.2858-16_2861delinsCAAATTTATATT
NM_001351834.2:c.2125-16_2128delinsCAAATTTATATT
NM_000051.4:c.2125-16_2128delinsCAAATTTATATT