Canonical Allele Identifier: CA1998785697
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108279524_108279528delinsGTTAC , CM000673.2:g.108279524_108279528delinsGTTAC GRCh38
NC_000011.9:g.108150251_108150255delinsGTTAC , CM000673.1:g.108150251_108150255delinsGTTAC GRCh37
NC_000011.8:g.107655461_107655465delinsGTTAC NCBI36
NG_009830.1:g.61693_61697delinsGTTAC , LRG_135:g.61693_61697delinsGTTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3318_3322delinsGTTAC ENSP00000388058.2:p.Arg1106=
ENST00000713593.1:c.*2789_*2793delinsGTTAC ENSP00000518889.1:n.*2789_*2793delinsGTTAC
ENST00000278616.9:c.3318_3322delinsGTTAC ENSP00000278616.4:p.Arg1106=
ENST00000683174.1:n.3468_3472delinsGTTAC
ENST00000527805.6:c.3318_3322delinsGTTAC ENSP00000435747.2:p.Arg1106=
ENST00000675595.1:c.3153_3157delinsGTTAC ENSP00000502563.1:p.Arg1051=
ENST00000675843.1:c.3318_3322delinsGTTAC MANE Select ENSP00000501606.1:p.Arg1106=
ENST00000278616.8:c.3318_3322delinsGTTAC ENSP00000278616.4:p.Arg1106=
ENST00000452508.6:c.3318_3322delinsGTTAC ENSP00000388058.2:p.Arg1106=
ENST00000527805.5:c.3318_3322delinsGTTAC ENSP00000435747.1:p.Arg1106=
NM_000051.3:c.3318_3322delinsGTTAC , LRG_135t1:c.3318_3322delinsGTTAC NP_000042.3:p.Arg1106=
XM_005271561.3:c.3318_3322delinsGTTAC XP_005271618.2:p.Arg1106=
XM_005271562.3:c.3318_3322delinsGTTAC XP_005271619.2:p.Arg1106=
XM_006718843.2:c.3318_3322delinsGTTAC XP_006718906.1:p.Arg1106=
XM_011542840.1:c.3318_3322delinsGTTAC XP_011541142.1:p.Arg1106=
XM_011542841.1:c.3318_3322delinsGTTAC XP_011541143.1:p.Arg1106=
XM_011542842.1:c.3153_3157delinsGTTAC XP_011541144.1:p.Arg1051=
XM_011542843.1:c.3318_3322delinsGTTAC XP_011541145.1:p.Arg1106=
XM_011542844.1:c.2274_2278delinsGTTAC XP_011541146.1:p.Arg758=
XM_011542845.1:c.2010_2014delinsGTTAC XP_011541147.1:p.Arg670=
XM_011542846.1:c.3318_3322delinsGTTAC XP_011541148.1:p.Arg1106=
NM_001351834.1:c.3318_3322delinsGTTAC NP_001338763.1:p.Arg1106=
XM_005271562.5:c.3318_3322delinsGTTAC XP_005271619.2:p.Arg1106=
XM_006718843.4:c.3318_3322delinsGTTAC XP_006718906.1:p.Arg1106=
XM_011542840.3:c.3318_3322delinsGTTAC XP_011541142.1:p.Arg1106=
XM_011542842.3:c.3153_3157delinsGTTAC XP_011541144.1:p.Arg1051=
XM_011542843.2:c.3318_3322delinsGTTAC XP_011541145.1:p.Arg1106=
XM_011542844.3:c.2274_2278delinsGTTAC XP_011541146.1:p.Arg758=
XM_011542845.2:c.2010_2014delinsGTTAC XP_011541147.1:p.Arg670=
XM_017017789.2:c.3318_3322delinsGTTAC XP_016873278.1:p.Arg1106=
XM_017017790.2:c.3318_3322delinsGTTAC XP_016873279.1:p.Arg1106=
XM_017017791.1:c.3318_3322delinsGTTAC XP_016873280.1:p.Arg1106=
XM_017017792.2:c.3318_3322delinsGTTAC XP_016873281.1:p.Arg1106=
XR_002957150.1:n.4051_4055delinsGTTAC
NM_001351834.2:c.3318_3322delinsGTTAC NP_001338763.1:p.Arg1106=
NM_000051.4:c.3318_3322delinsGTTAC MANE Select NP_000042.3:p.Arg1106=