Canonical Allele Identifier: CA2793552064
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108222950G>C , CM000673.2:g.108222950G>C GRCh38
NC_000011.9:g.108093677G>C , CM000673.1:g.108093677G>C GRCh37
NC_000011.8:g.107598887G>C NCBI36
NG_009830.1:g.5119G>C , LRG_135:g.5119G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-355G>C ENSP00000388058.2:n.-355G>C
ENST00000683914.2:c.-267G>C ENSP00000507649.1:n.-267G>C
ENST00000278616.8:c.-267G>C ENSP00000278616.4:n.-267G>C
ENST00000527805.5:c.-267G>C ENSP00000435747.1:n.-267G>C
NM_000051.3:c.-267G>C , LRG_135t1:c.-267G>C NP_000042.3:n.-267G>C
XM_011542843.1:c.-267G>C XP_011541145.1:n.-267G>C
XM_011542846.1:c.-267G>C XP_011541148.1:n.-267G>C
NM_001351834.1:c.-355G>C NP_001338763.1:n.-355G>C
NM_001351835.1:c.-267G>C NP_001338764.1:n.-267G>C
XM_011542842.3:c.-267G>C XP_011541144.1:n.-267G>C
XM_011542843.2:c.-267G>C XP_011541145.1:n.-267G>C
XM_011542844.3:c.-1289G>C XP_011541146.1:n.-1289G>C
XM_017017791.1:c.-267G>C XP_016873280.1:n.-267G>C
XM_017017792.2:c.-267G>C XP_016873281.1:n.-267G>C
XR_002957150.1:n.467G>C