Canonical Allele Identifier: CA1998803726

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307971A= , CM000673.2:g.108307971A=	GRCh38
NC_000011.9:g.108178698A= , CM000673.1:g.108178698A=	GRCh37
NC_000011.8:g.107683908A=	NCBI36
NG_009830.1:g.90140A= , LRG_135:g.90140A=
NG_054724.1:g.166862T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5749A=	ENSP00000388058.2:p.Arg1917=
ENST00000713593.1:c.*5220A=	ENSP00000518889.1:n.*5220A=
ENST00000278616.9:c.5749A=	ENSP00000278616.4:p.Arg1917=
ENST00000525056.2:n.168A=
ENST00000682286.1:n.506A=
ENST00000682302.1:n.167A=
ENST00000683174.1:n.7233A=
ENST00000683524.1:n.973A=
ENST00000684152.1:n.1463A=
ENST00000527805.6:c.*813A=	ENSP00000435747.2:n.*813A=
ENST00000675595.1:c.*813A=	ENSP00000502563.1:n.*813A=
ENST00000675843.1:c.5749A= MANE Select	ENSP00000501606.1:p.Arg1917=
ENST00000278616.8:c.5749A=	ENSP00000278616.4:p.Arg1917=
ENST00000452508.6:c.5749A=	ENSP00000388058.2:p.Arg1917=
ENST00000524792.5:n.1964A=
ENST00000529588.5:c.187-2189A=
ENST00000533690.5:n.1153A=
NM_000051.3:c.5749A= , LRG_135t1:c.5749A=	NP_000042.3:p.Arg1917=
XM_005271561.3:c.5749A=	XP_005271618.2:p.Arg1917=
XM_005271562.3:c.5749A=	XP_005271619.2:p.Arg1917=
XM_006718843.2:c.5749A=	XP_006718906.1:p.Arg1917=
XM_006718845.1:c.1705A=	XP_006718908.1:p.Arg569=
XM_011542840.1:c.5749A=	XP_011541142.1:p.Arg1917=
XM_011542841.1:c.5749A=	XP_011541143.1:p.Arg1917=
XM_011542842.1:c.5584A=	XP_011541144.1:p.Arg1862=
XM_011542843.1:c.5749A=	XP_011541145.1:p.Arg1917=
XM_011542844.1:c.4705A=	XP_011541146.1:p.Arg1569=
XM_011542845.1:c.4441A=	XP_011541147.1:p.Arg1481=
XM_011542847.1:c.820A=	XP_011541149.1:p.Arg274=
NM_001351834.1:c.5749A=	NP_001338763.1:p.Arg1917=
XM_005271562.5:c.5749A=	XP_005271619.2:p.Arg1917=
XM_006718843.4:c.5749A=	XP_006718906.1:p.Arg1917=
XM_006718845.2:c.1705A=	XP_006718908.1:p.Arg569=
XM_011542840.3:c.5749A=	XP_011541142.1:p.Arg1917=
XM_011542842.3:c.5584A=	XP_011541144.1:p.Arg1862=
XM_011542843.2:c.5749A=	XP_011541145.1:p.Arg1917=
XM_011542844.3:c.4705A=	XP_011541146.1:p.Arg1569=
XM_011542845.2:c.4441A=	XP_011541147.1:p.Arg1481=
XM_017017789.2:c.5749A=	XP_016873278.1:p.Arg1917=
XM_017017790.2:c.5749A=	XP_016873279.1:p.Arg1917=
XM_017017791.1:c.5749A=	XP_016873280.1:p.Arg1917=
XR_002957150.1:n.6349A=
NM_001351834.2:c.5749A=	NP_001338763.1:p.Arg1917=
NM_000051.4:c.5749A= MANE Select	NP_000042.3:p.Arg1917=