Canonical Allele Identifier: CA1998803665

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307926G= , CM000673.2:g.108307926G=	GRCh38
NC_000011.9:g.108178653G= , CM000673.1:g.108178653G=	GRCh37
NC_000011.8:g.107683863G=	NCBI36
NG_009830.1:g.90095G= , LRG_135:g.90095G=
NG_054724.1:g.166907C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5704G=	ENSP00000388058.2:p.Asp1902=
ENST00000713593.1:c.*5175G=	ENSP00000518889.1:n.*5175G=
ENST00000278616.9:c.5704G=	ENSP00000278616.4:p.Asp1902=
ENST00000525056.2:n.123G=
ENST00000682286.1:n.461G=
ENST00000682302.1:n.122G=
ENST00000683174.1:n.7188G=
ENST00000683524.1:n.928G=
ENST00000684152.1:n.1418G=
ENST00000527805.6:c.*768G=	ENSP00000435747.2:n.*768G=
ENST00000675595.1:c.*768G=	ENSP00000502563.1:n.*768G=
ENST00000675843.1:c.5704G= MANE Select	ENSP00000501606.1:p.Asp1902=
ENST00000278616.8:c.5704G=	ENSP00000278616.4:p.Asp1902=
ENST00000452508.6:c.5704G=	ENSP00000388058.2:p.Asp1902=
ENST00000524792.5:n.1919G=
ENST00000529588.5:c.187-2234G=
ENST00000533690.5:n.1108G=
NM_000051.3:c.5704G= , LRG_135t1:c.5704G=	NP_000042.3:p.Asp1902=
XM_005271561.3:c.5704G=	XP_005271618.2:p.Asp1902=
XM_005271562.3:c.5704G=	XP_005271619.2:p.Asp1902=
XM_006718843.2:c.5704G=	XP_006718906.1:p.Asp1902=
XM_006718845.1:c.1660G=	XP_006718908.1:p.Asp554=
XM_011542840.1:c.5704G=	XP_011541142.1:p.Asp1902=
XM_011542841.1:c.5704G=	XP_011541143.1:p.Asp1902=
XM_011542842.1:c.5539G=	XP_011541144.1:p.Asp1847=
XM_011542843.1:c.5704G=	XP_011541145.1:p.Asp1902=
XM_011542844.1:c.4660G=	XP_011541146.1:p.Asp1554=
XM_011542845.1:c.4396G=	XP_011541147.1:p.Asp1466=
XM_011542847.1:c.775G=	XP_011541149.1:p.Asp259=
NM_001351834.1:c.5704G=	NP_001338763.1:p.Asp1902=
XM_005271562.5:c.5704G=	XP_005271619.2:p.Asp1902=
XM_006718843.4:c.5704G=	XP_006718906.1:p.Asp1902=
XM_006718845.2:c.1660G=	XP_006718908.1:p.Asp554=
XM_011542840.3:c.5704G=	XP_011541142.1:p.Asp1902=
XM_011542842.3:c.5539G=	XP_011541144.1:p.Asp1847=
XM_011542843.2:c.5704G=	XP_011541145.1:p.Asp1902=
XM_011542844.3:c.4660G=	XP_011541146.1:p.Asp1554=
XM_011542845.2:c.4396G=	XP_011541147.1:p.Asp1466=
XM_017017789.2:c.5704G=	XP_016873278.1:p.Asp1902=
XM_017017790.2:c.5704G=	XP_016873279.1:p.Asp1902=
XM_017017791.1:c.5704G=	XP_016873280.1:p.Asp1902=
XR_002957150.1:n.6304G=
NM_001351834.2:c.5704G=	NP_001338763.1:p.Asp1902=
NM_000051.4:c.5704G= MANE Select	NP_000042.3:p.Asp1902=