Canonical Allele Identifier: CA1998757934
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs2078562488

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223004_108223006del , CM000673.2:g.108223004_108223006del GRCh38
NC_000011.9:g.108093731_108093733del , CM000673.1:g.108093731_108093733del GRCh37
NC_000011.8:g.107598941_107598943del NCBI36
NG_009830.1:g.5173_5175del , LRG_135:g.5173_5175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-301_-299del ENSP00000388058.2:n.-301_-299del
ENST00000683914.2:c.-213_-211del ENSP00000507649.1:n.-213_-211del
ENST00000278616.8:c.-213_-211del ENSP00000278616.4:n.-213_-211del
ENST00000527805.5:c.-213_-211del ENSP00000435747.1:n.-213_-211del
NM_000051.3:c.-213_-211del , LRG_135t1:c.-213_-211del NP_000042.3:n.-213_-211del
XM_011542843.1:c.-213_-211del XP_011541145.1:n.-213_-211del
XM_011542846.1:c.-213_-211del XP_011541148.1:n.-213_-211del
NM_001351834.1:c.-301_-299del NP_001338763.1:n.-301_-299del
NM_001351835.1:c.-213_-211del NP_001338764.1:n.-213_-211del
XM_011542842.3:c.-213_-211del XP_011541144.1:n.-213_-211del
XM_011542843.2:c.-213_-211del XP_011541145.1:n.-213_-211del
XM_011542844.3:c.-1235_-1233del XP_011541146.1:n.-1235_-1233del
XM_017017791.1:c.-213_-211del XP_016873280.1:n.-213_-211del
XM_017017792.2:c.-213_-211del XP_016873281.1:n.-213_-211del
XR_002957150.1:n.521_523del