Canonical Allele Identifier: CA1998799764

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302895G= , CM000673.2:g.108302895G=	GRCh38
NC_000011.9:g.108173622G= , CM000673.1:g.108173622G=	GRCh37
NC_000011.8:g.107678832G=	NCBI36
NG_009830.1:g.85064G= , LRG_135:g.85064G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5362G=	ENSP00000388058.2:p.Gly1788=
ENST00000713593.1:c.*4833G=	ENSP00000518889.1:n.*4833G=
ENST00000278616.9:c.5362G=	ENSP00000278616.4:p.Gly1788=
ENST00000683174.1:n.6846G=
ENST00000683524.1:n.586G=
ENST00000684152.1:n.1076G=
ENST00000527805.6:c.*426G=	ENSP00000435747.2:n.*426G=
ENST00000675595.1:c.*426G=	ENSP00000502563.1:n.*426G=
ENST00000675843.1:c.5362G= MANE Select	ENSP00000501606.1:p.Gly1788=
ENST00000278616.8:c.5362G=	ENSP00000278616.4:p.Gly1788=
ENST00000452508.6:c.5362G=	ENSP00000388058.2:p.Gly1788=
ENST00000524792.5:n.1577G=
ENST00000533690.5:n.766G=
ENST00000534625.1:n.591G=
NM_000051.3:c.5362G= , LRG_135t1:c.5362G=	NP_000042.3:p.Gly1788=
XM_005271561.3:c.5362G=	XP_005271618.2:p.Gly1788=
XM_005271562.3:c.5362G=	XP_005271619.2:p.Gly1788=
XM_006718843.2:c.5362G=	XP_006718906.1:p.Gly1788=
XM_006718845.1:c.1318G=	XP_006718908.1:p.Gly440=
XM_011542840.1:c.5362G=	XP_011541142.1:p.Gly1788=
XM_011542841.1:c.5362G=	XP_011541143.1:p.Gly1788=
XM_011542842.1:c.5197G=	XP_011541144.1:p.Gly1733=
XM_011542843.1:c.5362G=	XP_011541145.1:p.Gly1788=
XM_011542844.1:c.4318G=	XP_011541146.1:p.Gly1440=
XM_011542845.1:c.4054G=	XP_011541147.1:p.Gly1352=
XM_011542846.1:c.*20G=	XP_011541148.1:n.*20G=
XM_011542847.1:c.433G=	XP_011541149.1:p.Gly145=
NM_001351834.1:c.5362G=	NP_001338763.1:p.Gly1788=
XM_005271562.5:c.5362G=	XP_005271619.2:p.Gly1788=
XM_006718843.4:c.5362G=	XP_006718906.1:p.Gly1788=
XM_006718845.2:c.1318G=	XP_006718908.1:p.Gly440=
XM_011542840.3:c.5362G=	XP_011541142.1:p.Gly1788=
XM_011542842.3:c.5197G=	XP_011541144.1:p.Gly1733=
XM_011542843.2:c.5362G=	XP_011541145.1:p.Gly1788=
XM_011542844.3:c.4318G=	XP_011541146.1:p.Gly1440=
XM_011542845.2:c.4054G=	XP_011541147.1:p.Gly1352=
XM_017017789.2:c.5362G=	XP_016873278.1:p.Gly1788=
XM_017017790.2:c.5362G=	XP_016873279.1:p.Gly1788=
XM_017017791.1:c.5362G=	XP_016873280.1:p.Gly1788=
XM_017017792.2:c.*43G=	XP_016873281.1:n.*43G=
XR_002957150.1:n.5962G=
NM_001351834.2:c.5362G=	NP_001338763.1:p.Gly1788=
NM_000051.4:c.5362G= MANE Select	NP_000042.3:p.Gly1788=