Canonical Allele Identifier: CA1998800040

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302968C= , CM000673.2:g.108302968C=	GRCh38
NC_000011.9:g.108173695C= , CM000673.1:g.108173695C=	GRCh37
NC_000011.8:g.107678905C=	NCBI36
NG_009830.1:g.85137C= , LRG_135:g.85137C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5435C=	ENSP00000388058.2:p.Ala1812=
ENST00000713593.1:c.*4906C=	ENSP00000518889.1:n.*4906C=
ENST00000278616.9:c.5435C=	ENSP00000278616.4:p.Ala1812=
ENST00000683174.1:n.6919C=
ENST00000683524.1:n.659C=
ENST00000684152.1:n.1149C=
ENST00000527805.6:c.*499C=	ENSP00000435747.2:n.*499C=
ENST00000675595.1:c.*499C=	ENSP00000502563.1:n.*499C=
ENST00000675843.1:c.5435C= MANE Select	ENSP00000501606.1:p.Ala1812=
ENST00000278616.8:c.5435C=	ENSP00000278616.4:p.Ala1812=
ENST00000452508.6:c.5435C=	ENSP00000388058.2:p.Ala1812=
ENST00000524792.5:n.1650C=
ENST00000533690.5:n.839C=
ENST00000534625.1:n.664C=
NM_000051.3:c.5435C= , LRG_135t1:c.5435C=	NP_000042.3:p.Ala1812=
XM_005271561.3:c.5435C=	XP_005271618.2:p.Ala1812=
XM_005271562.3:c.5435C=	XP_005271619.2:p.Ala1812=
XM_006718843.2:c.5435C=	XP_006718906.1:p.Ala1812=
XM_006718845.1:c.1391C=	XP_006718908.1:p.Ala464=
XM_011542840.1:c.5435C=	XP_011541142.1:p.Ala1812=
XM_011542841.1:c.5435C=	XP_011541143.1:p.Ala1812=
XM_011542842.1:c.5270C=	XP_011541144.1:p.Ala1757=
XM_011542843.1:c.5435C=	XP_011541145.1:p.Ala1812=
XM_011542844.1:c.4391C=	XP_011541146.1:p.Ala1464=
XM_011542845.1:c.4127C=	XP_011541147.1:p.Ala1376=
XM_011542846.1:c.*93C=	XP_011541148.1:n.*93C=
XM_011542847.1:c.506C=	XP_011541149.1:p.Ala169=
NM_001351834.1:c.5435C=	NP_001338763.1:p.Ala1812=
XM_005271562.5:c.5435C=	XP_005271619.2:p.Ala1812=
XM_006718843.4:c.5435C=	XP_006718906.1:p.Ala1812=
XM_006718845.2:c.1391C=	XP_006718908.1:p.Ala464=
XM_011542840.3:c.5435C=	XP_011541142.1:p.Ala1812=
XM_011542842.3:c.5270C=	XP_011541144.1:p.Ala1757=
XM_011542843.2:c.5435C=	XP_011541145.1:p.Ala1812=
XM_011542844.3:c.4391C=	XP_011541146.1:p.Ala1464=
XM_011542845.2:c.4127C=	XP_011541147.1:p.Ala1376=
XM_017017789.2:c.5435C=	XP_016873278.1:p.Ala1812=
XM_017017790.2:c.5435C=	XP_016873279.1:p.Ala1812=
XM_017017791.1:c.5435C=	XP_016873280.1:p.Ala1812=
XR_002957150.1:n.6035C=
NM_001351834.2:c.5435C=	NP_001338763.1:p.Ala1812=
NM_000051.4:c.5435C= MANE Select	NP_000042.3:p.Ala1812=