Canonical Allele Identifier: CA671369936
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 640049
dbSNP Id: rs1380265721

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108245027_108245052del , CM000673.2:g.108245027_108245052del GRCh38
NC_000011.9:g.108115754_108115779del , CM000673.1:g.108115754_108115779del GRCh37
NC_000011.8:g.107620964_107620989del NCBI36
NG_009830.1:g.27196_27221del , LRG_135:g.27196_27221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.901+1_901+26del
ENST00000713593.1:c.*372+1_*372+26del
ENST00000278616.9:c.901+1_901+26del
ENST00000682516.1:n.1035+1_1035+26del
ENST00000682956.1:n.1035+1_1035+26del
ENST00000683100.1:n.3248+1_3248+26del
ENST00000683174.1:n.1051+1_1051+26del
ENST00000683605.1:n.396+1_396+26del
ENST00000684037.1:c.901+1_901+26del
ENST00000684061.1:n.1035+1_1035+26del
ENST00000684179.1:n.870+1_870+26del
ENST00000527805.6:c.901+1_901+26del
ENST00000675595.1:c.736+1_736+26del
ENST00000675843.1:c.901+1_901+26del
ENST00000278616.8:c.901+1_901+26del
ENST00000452508.6:c.901+1_901+26del
ENST00000527805.5:c.901+1_901+26del
NM_000051.3:c.901+1_901+26del , LRG_135t1:c.901+1_901+26del
XM_005271561.3:c.901+1_901+26del
XM_005271562.3:c.901+1_901+26del
XM_006718843.2:c.901+1_901+26del
XM_011542840.1:c.901+1_901+26del
XM_011542841.1:c.901+1_901+26del
XM_011542842.1:c.736+1_736+26del
XM_011542843.1:c.901+1_901+26del
XM_011542844.1:c.-144+1_-144+26del
XM_011542846.1:c.901+1_901+26del
NM_001351834.1:c.901+1_901+26del
XM_005271562.5:c.901+1_901+26del
XM_006718843.4:c.901+1_901+26del
XM_011542840.3:c.901+1_901+26del
XM_011542842.3:c.736+1_736+26del
XM_011542843.2:c.901+1_901+26del
XM_011542844.3:c.-144+1_-144+26del
XM_017017789.2:c.901+1_901+26del
XM_017017790.2:c.901+1_901+26del
XM_017017791.1:c.901+1_901+26del
XM_017017792.2:c.901+1_901+26del
XR_002957150.1:n.1634+1_1634+26del
NM_001351834.2:c.901+1_901+26del
NM_000051.4:c.901+1_901+26del