Canonical Allele Identifier: CA1998758138

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223174T= , CM000673.2:g.108223174T=	GRCh38
NC_000011.9:g.108093901T= , CM000673.1:g.108093901T=	GRCh37
NC_000011.8:g.107599111T=	NCBI36
NG_009830.1:g.5343T= , LRG_135:g.5343T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-131T=	ENSP00000388058.2:n.-131T=
ENST00000683914.2:c.-43T=	ENSP00000507649.1:n.-43T=
ENST00000713593.1:c.-43T=	ENSP00000518889.1:n.-43T=
ENST00000683150.1:c.-194T=	ENSP00000507125.1:n.-194T=
ENST00000683174.1:n.108T=
ENST00000683468.1:c.-4451T=	ENSP00000508178.1:n.-4451T=
ENST00000683488.1:n.131T=
ENST00000683914.1:c.-43T=	ENSP00000507649.1:n.-43T=
ENST00000527805.6:c.-43T=	ENSP00000435747.2:n.-43T=
ENST00000639240.1:c.-127T=	ENSP00000491585.1:n.-127T=
ENST00000639953.1:c.-215T=	ENSP00000492487.1:n.-215T=
ENST00000640388.1:c.-205T=	ENSP00000492354.1:n.-205T=
ENST00000675595.1:c.-43T=	ENSP00000502563.1:n.-43T=
ENST00000675843.1:c.-43T= MANE Select	ENSP00000501606.1:n.-43T=
ENST00000278616.8:c.-43T=	ENSP00000278616.4:n.-43T=
ENST00000452508.6:c.-131T=	ENSP00000388058.2:n.-131T=
ENST00000527805.5:c.-43T=	ENSP00000435747.1:n.-43T=
ENST00000527891.5:c.-43T=	ENSP00000433955.1:n.-43T=
ENST00000530958.5:c.-4451T=	ENSP00000483338.1:n.-4451T=
ENST00000532931.5:c.-117T=	ENSP00000432318.1:n.-117T=
NM_000051.3:c.-43T= , LRG_135t1:c.-43T=	NP_000042.3:n.-43T=
XM_005271561.3:c.-131T=	XP_005271618.2:n.-131T=
XM_011542841.1:c.-834T=	XP_011541143.1:n.-834T=
XM_011542842.1:c.-43T=	XP_011541144.1:n.-43T=
XM_011542843.1:c.-43T=	XP_011541145.1:n.-43T=
XM_011542846.1:c.-43T=	XP_011541148.1:n.-43T=
NM_001351834.1:c.-131T=	NP_001338763.1:n.-131T=
NM_001351835.1:c.-43T=	NP_001338764.1:n.-43T=
XM_011542842.3:c.-43T=	XP_011541144.1:n.-43T=
XM_011542843.2:c.-43T=	XP_011541145.1:n.-43T=
XM_011542844.3:c.-1065T=	XP_011541146.1:n.-1065T=
XM_017017791.1:c.-43T=	XP_016873280.1:n.-43T=
XM_017017792.2:c.-43T=	XP_016873281.1:n.-43T=
XR_002957150.1:n.691T=
NM_001351834.2:c.-131T=	NP_001338763.1:n.-131T=
NM_000051.4:c.-43T= MANE Select	NP_000042.3:n.-43T=
NM_001351835.2:c.-43T=	NP_001338764.1:n.-43T=