Canonical Allele Identifier: CA382534657

Gene: ATM

Linked Data

• ClinVar Variation Id: 2892605
• ClinVar RCV Id: RCV003606738
• dbSNP Id: rs2082915572
• gnomAD v4: 11-108293354-T-A
• MyVariant Identifiers: chr11:g.108164081T>A (hg19) ; chr11:g.108293354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108293354T>A , CM000673.2:g.108293354T>A	GRCh38
NC_000011.9:g.108164081T>A , CM000673.1:g.108164081T>A	GRCh37
NC_000011.8:g.107669291T>A	NCBI36
NG_009830.1:g.75523T>A , LRG_135:g.75523T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4653T>A	ENSP00000388058.2:p.Asp1551Glu
ENST00000713593.1:c.*4124T>A	ENSP00000518889.1:n.*4124T>A
ENST00000278616.9:c.4653T>A	ENSP00000278616.4:p.Asp1551Glu
ENST00000683174.1:n.4803T>A
ENST00000683524.1:n.10T>A
ENST00000527805.6:c.4611+561T>A	ENSP00000435747.2:n.4611+561T>A
ENST00000675595.1:c.4488T>A	ENSP00000502563.1:p.Asp1496Glu
ENST00000675843.1:c.4653T>A MANE Select	ENSP00000501606.1:p.Asp1551Glu
ENST00000278616.8:c.4653T>A	ENSP00000278616.4:p.Asp1551Glu
ENST00000452508.6:c.4653T>A	ENSP00000388058.2:p.Asp1551Glu
ENST00000524792.5:n.868T>A
ENST00000531525.2:c.444-1573T>A	ENSP00000434327.2:n.444-1573T>A
NM_000051.3:c.4653T>A , LRG_135t1:c.4653T>A	NP_000042.3:p.Asp1551Glu
XM_005271561.3:c.4653T>A	XP_005271618.2:p.Asp1551Glu
XM_005271562.3:c.4653T>A	XP_005271619.2:p.Asp1551Glu
XM_006718843.2:c.4653T>A	XP_006718906.1:p.Asp1551Glu
XM_006718845.1:c.609T>A	XP_006718908.1:p.Asp203Glu
XM_011542840.1:c.4653T>A	XP_011541142.1:p.Asp1551Glu
XM_011542841.1:c.4653T>A	XP_011541143.1:p.Asp1551Glu
XM_011542842.1:c.4488T>A	XP_011541144.1:p.Asp1496Glu
XM_011542843.1:c.4653T>A	XP_011541145.1:p.Asp1551Glu
XM_011542844.1:c.3609T>A	XP_011541146.1:p.Asp1203Glu
XM_011542845.1:c.3345T>A	XP_011541147.1:p.Asp1115Glu
XM_011542846.1:c.4653T>A	XP_011541148.1:p.Asp1551Glu
NM_001351834.1:c.4653T>A	NP_001338763.1:p.Asp1551Glu
XM_005271562.5:c.4653T>A	XP_005271619.2:p.Asp1551Glu
XM_006718843.4:c.4653T>A	XP_006718906.1:p.Asp1551Glu
XM_006718845.2:c.609T>A	XP_006718908.1:p.Asp203Glu
XM_011542840.3:c.4653T>A	XP_011541142.1:p.Asp1551Glu
XM_011542842.3:c.4488T>A	XP_011541144.1:p.Asp1496Glu
XM_011542843.2:c.4653T>A	XP_011541145.1:p.Asp1551Glu
XM_011542844.3:c.3609T>A	XP_011541146.1:p.Asp1203Glu
XM_011542845.2:c.3345T>A	XP_011541147.1:p.Asp1115Glu
XM_017017789.2:c.4653T>A	XP_016873278.1:p.Asp1551Glu
XM_017017790.2:c.4653T>A	XP_016873279.1:p.Asp1551Glu
XM_017017791.1:c.4653T>A	XP_016873280.1:p.Asp1551Glu
XM_017017792.2:c.4653T>A	XP_016873281.1:p.Asp1551Glu
XR_002957150.1:n.5386T>A
NM_001351834.2:c.4653T>A	NP_001338763.1:p.Asp1551Glu
NM_000051.4:c.4653T>A MANE Select	NP_000042.3:p.Asp1551Glu