Canonical Allele Identifier: CA1998765406
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108245047G= , CM000673.2:g.108245047G= GRCh38
NC_000011.9:g.108115774G= , CM000673.1:g.108115774G= GRCh37
NC_000011.8:g.107620984G= NCBI36
NG_009830.1:g.27216G= , LRG_135:g.27216G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.901+21G= ENSP00000388058.2:n.901+21G=
ENST00000713593.1:c.*372+21G= ENSP00000518889.1:n.*372+21G=
ENST00000278616.9:c.901+21G= ENSP00000278616.4:n.901+21G=
ENST00000682516.1:n.1035+21G=
ENST00000682956.1:n.1035+21G=
ENST00000683100.1:n.3248+21G=
ENST00000683174.1:n.1051+21G=
ENST00000683605.1:n.396+21G=
ENST00000684037.1:c.901+21G= ENSP00000508245.1:n.901+21G=
ENST00000684061.1:n.1035+21G=
ENST00000684179.1:n.870+21G=
ENST00000527805.6:c.901+21G= ENSP00000435747.2:n.901+21G=
ENST00000675595.1:c.736+21G= ENSP00000502563.1:n.736+21G=
ENST00000675843.1:c.901+21G= MANE Select ENSP00000501606.1:n.901+21G=
ENST00000278616.8:c.901+21G= ENSP00000278616.4:n.901+21G=
ENST00000452508.6:c.901+21G= ENSP00000388058.2:n.901+21G=
ENST00000527805.5:c.901+21G= ENSP00000435747.1:n.901+21G=
NM_000051.3:c.901+21G= , LRG_135t1:c.901+21G= NP_000042.3:n.901+21G=
XM_005271561.3:c.901+21G= XP_005271618.2:n.901+21G=
XM_005271562.3:c.901+21G= XP_005271619.2:n.901+21G=
XM_006718843.2:c.901+21G= XP_006718906.1:n.901+21G=
XM_011542840.1:c.901+21G= XP_011541142.1:n.901+21G=
XM_011542841.1:c.901+21G= XP_011541143.1:n.901+21G=
XM_011542842.1:c.736+21G= XP_011541144.1:n.736+21G=
XM_011542843.1:c.901+21G= XP_011541145.1:n.901+21G=
XM_011542844.1:c.-144+21G= XP_011541146.1:n.-144+21G=
XM_011542846.1:c.901+21G= XP_011541148.1:n.901+21G=
NM_001351834.1:c.901+21G= NP_001338763.1:n.901+21G=
XM_005271562.5:c.901+21G= XP_005271619.2:n.901+21G=
XM_006718843.4:c.901+21G= XP_006718906.1:n.901+21G=
XM_011542840.3:c.901+21G= XP_011541142.1:n.901+21G=
XM_011542842.3:c.736+21G= XP_011541144.1:n.736+21G=
XM_011542843.2:c.901+21G= XP_011541145.1:n.901+21G=
XM_011542844.3:c.-144+21G= XP_011541146.1:n.-144+21G=
XM_017017789.2:c.901+21G= XP_016873278.1:n.901+21G=
XM_017017790.2:c.901+21G= XP_016873279.1:n.901+21G=
XM_017017791.1:c.901+21G= XP_016873280.1:n.901+21G=
XM_017017792.2:c.901+21G= XP_016873281.1:n.901+21G=
XR_002957150.1:n.1634+21G=
NM_001351834.2:c.901+21G= NP_001338763.1:n.901+21G=
NM_000051.4:c.901+21G= MANE Select NP_000042.3:n.901+21G=