Canonical Allele Identifier: CA1998758011
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223070T= , CM000673.2:g.108223070T= GRCh38
NC_000011.9:g.108093797T= , CM000673.1:g.108093797T= GRCh37
NC_000011.8:g.107599007T= NCBI36
NG_009830.1:g.5239T= , LRG_135:g.5239T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-235T= ENSP00000388058.2:n.-235T=
ENST00000683914.2:c.-147T= ENSP00000507649.1:n.-147T=
ENST00000713593.1:c.-147T= ENSP00000518889.1:n.-147T=
ENST00000683174.1:n.4T=
ENST00000683488.1:n.27T=
ENST00000527805.6:c.-147T= ENSP00000435747.2:n.-147T=
ENST00000675843.1:c.-147T= MANE Select ENSP00000501606.1:n.-147T=
ENST00000278616.8:c.-147T= ENSP00000278616.4:n.-147T=
ENST00000527805.5:c.-147T= ENSP00000435747.1:n.-147T=
NM_000051.3:c.-147T= , LRG_135t1:c.-147T= NP_000042.3:n.-147T=
XM_011542843.1:c.-147T= XP_011541145.1:n.-147T=
XM_011542846.1:c.-147T= XP_011541148.1:n.-147T=
NM_001351834.1:c.-235T= NP_001338763.1:n.-235T=
NM_001351835.1:c.-147T= NP_001338764.1:n.-147T=
XM_011542842.3:c.-147T= XP_011541144.1:n.-147T=
XM_011542843.2:c.-147T= XP_011541145.1:n.-147T=
XM_011542844.3:c.-1169T= XP_011541146.1:n.-1169T=
XM_017017791.1:c.-147T= XP_016873280.1:n.-147T=
XM_017017792.2:c.-147T= XP_016873281.1:n.-147T=
XR_002957150.1:n.587T=
NM_001351834.2:c.-235T= NP_001338763.1:n.-235T=
NM_000051.4:c.-147T= MANE Select NP_000042.3:n.-147T=
NM_001351835.2:c.-147T= NP_001338764.1:n.-147T=