Canonical Allele Identifier: CA2580083439

Gene: ATM

Linked Data

• ClinVar Variation Id: 2029293
• ClinVar RCV Id: RCV002880752

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307997G>A , CM000673.2:g.108307997G>A	GRCh38
NC_000011.9:g.108178724G>A , CM000673.1:g.108178724G>A	GRCh37
NC_000011.8:g.107683934G>A	NCBI36
NG_009830.1:g.90166G>A , LRG_135:g.90166G>A
NG_054724.1:g.166836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5762+13G>A	ENSP00000388058.2:n.5762+13G>A
ENST00000713593.1:c.*5233+13G>A	ENSP00000518889.1:n.*5233+13G>A
ENST00000278616.9:c.5762+13G>A	ENSP00000278616.4:n.5762+13G>A
ENST00000525056.2:n.181+13G>A
ENST00000682286.1:n.519+13G>A
ENST00000682302.1:n.180+13G>A
ENST00000683174.1:n.7246+13G>A
ENST00000683524.1:n.986+13G>A
ENST00000684152.1:n.1476+13G>A
ENST00000527805.6:c.*826+13G>A	ENSP00000435747.2:n.*826+13G>A
ENST00000675595.1:c.*826+13G>A	ENSP00000502563.1:n.*826+13G>A
ENST00000675843.1:c.5762+13G>A MANE Select	ENSP00000501606.1:n.5762+13G>A
ENST00000278616.8:c.5762+13G>A	ENSP00000278616.4:n.5762+13G>A
ENST00000452508.6:c.5762+13G>A	ENSP00000388058.2:n.5762+13G>A
ENST00000524792.5:n.1977+13G>A
ENST00000529588.5:c.187-2163G>A
ENST00000532765.1:n.6G>A
ENST00000533690.5:n.1166+13G>A
NM_000051.3:c.5762+13G>A , LRG_135t1:c.5762+13G>A	NP_000042.3:n.5762+13G>A
XM_005271561.3:c.5762+13G>A	XP_005271618.2:n.5762+13G>A
XM_005271562.3:c.5762+13G>A	XP_005271619.2:n.5762+13G>A
XM_006718843.2:c.5762+13G>A	XP_006718906.1:n.5762+13G>A
XM_006718845.1:c.1718+13G>A	XP_006718908.1:n.1718+13G>A
XM_011542840.1:c.5762+13G>A	XP_011541142.1:n.5762+13G>A
XM_011542841.1:c.5762+13G>A	XP_011541143.1:n.5762+13G>A
XM_011542842.1:c.5597+13G>A	XP_011541144.1:n.5597+13G>A
XM_011542843.1:c.5762+13G>A	XP_011541145.1:n.5762+13G>A
XM_011542844.1:c.4718+13G>A	XP_011541146.1:n.4718+13G>A
XM_011542845.1:c.4454+13G>A	XP_011541147.1:n.4454+13G>A
XM_011542847.1:c.833+13G>A	XP_011541149.1:n.833+13G>A
NM_001351834.1:c.5762+13G>A	NP_001338763.1:n.5762+13G>A
XM_005271562.5:c.5762+13G>A	XP_005271619.2:n.5762+13G>A
XM_006718843.4:c.5762+13G>A	XP_006718906.1:n.5762+13G>A
XM_006718845.2:c.1718+13G>A	XP_006718908.1:n.1718+13G>A
XM_011542840.3:c.5762+13G>A	XP_011541142.1:n.5762+13G>A
XM_011542842.3:c.5597+13G>A	XP_011541144.1:n.5597+13G>A
XM_011542843.2:c.5762+13G>A	XP_011541145.1:n.5762+13G>A
XM_011542844.3:c.4718+13G>A	XP_011541146.1:n.4718+13G>A
XM_011542845.2:c.4454+13G>A	XP_011541147.1:n.4454+13G>A
XM_017017789.2:c.5762+13G>A	XP_016873278.1:n.5762+13G>A
XM_017017790.2:c.5762+13G>A	XP_016873279.1:n.5762+13G>A
XM_017017791.1:c.5762+13G>A	XP_016873280.1:n.5762+13G>A
XR_002957150.1:n.6362+13G>A
NM_001351834.2:c.5762+13G>A	NP_001338763.1:n.5762+13G>A
NM_000051.4:c.5762+13G>A MANE Select	NP_000042.3:n.5762+13G>A