Canonical Allele Identifier: CA2573053406

Gene: ATM

Linked Data

• ClinVar Variation Id: 2453950
• ClinVar RCV Id: RCV003188085
• dbSNP Id: rs2135943275

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304716dup , CM000673.2:g.108304716dup	GRCh38
NC_000011.9:g.108175443dup , CM000673.1:g.108175443dup	GRCh37
NC_000011.8:g.107680653dup	NCBI36
NG_009830.1:g.86885dup , LRG_135:g.86885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5538dup	ENSP00000388058.2:p.His1847SerfsTer2
ENST00000713593.1:c.*5009dup	ENSP00000518889.1:n.*5009dup
ENST00000278616.9:c.5538dup	ENSP00000278616.4:p.His1847SerfsTer2
ENST00000683174.1:n.7022dup
ENST00000683524.1:n.762dup
ENST00000684152.1:n.1252dup
ENST00000527805.6:c.*602dup	ENSP00000435747.2:n.*602dup
ENST00000675595.1:c.*602dup	ENSP00000502563.1:n.*602dup
ENST00000675843.1:c.5538dup MANE Select	ENSP00000501606.1:p.His1847SerfsTer2
ENST00000278616.8:c.5538dup	ENSP00000278616.4:p.His1847SerfsTer2
ENST00000452508.6:c.5538dup	ENSP00000388058.2:p.His1847SerfsTer2
ENST00000524792.5:n.1753dup
ENST00000529588.5:c.50dup
ENST00000533690.5:n.942dup
NM_000051.3:c.5538dup , LRG_135t1:c.5538dup	NP_000042.3:p.His1847SerfsTer2
XM_005271561.3:c.5538dup	XP_005271618.2:p.His1847SerfsTer2
XM_005271562.3:c.5538dup	XP_005271619.2:p.His1847SerfsTer2
XM_006718843.2:c.5538dup	XP_006718906.1:p.His1847SerfsTer2
XM_006718845.1:c.1494dup	XP_006718908.1:p.His499SerfsTer2
XM_011542840.1:c.5538dup	XP_011541142.1:p.His1847SerfsTer2
XM_011542841.1:c.5538dup	XP_011541143.1:p.His1847SerfsTer2
XM_011542842.1:c.5373dup	XP_011541144.1:p.His1792SerfsTer2
XM_011542843.1:c.5538dup	XP_011541145.1:p.His1847SerfsTer2
XM_011542844.1:c.4494dup	XP_011541146.1:p.His1499SerfsTer2
XM_011542845.1:c.4230dup	XP_011541147.1:p.His1411SerfsTer2
XM_011542847.1:c.609dup	XP_011541149.1:p.His204SerfsTer2
NM_001351834.1:c.5538dup	NP_001338763.1:p.His1847SerfsTer2
XM_005271562.5:c.5538dup	XP_005271619.2:p.His1847SerfsTer2
XM_006718843.4:c.5538dup	XP_006718906.1:p.His1847SerfsTer2
XM_006718845.2:c.1494dup	XP_006718908.1:p.His499SerfsTer2
XM_011542840.3:c.5538dup	XP_011541142.1:p.His1847SerfsTer2
XM_011542842.3:c.5373dup	XP_011541144.1:p.His1792SerfsTer2
XM_011542843.2:c.5538dup	XP_011541145.1:p.His1847SerfsTer2
XM_011542844.3:c.4494dup	XP_011541146.1:p.His1499SerfsTer2
XM_011542845.2:c.4230dup	XP_011541147.1:p.His1411SerfsTer2
XM_017017789.2:c.5538dup	XP_016873278.1:p.His1847SerfsTer2
XM_017017790.2:c.5538dup	XP_016873279.1:p.His1847SerfsTer2
XM_017017791.1:c.5538dup	XP_016873280.1:p.His1847SerfsTer2
XR_002957150.1:n.6138dup
NM_001351834.2:c.5538dup	NP_001338763.1:p.His1847SerfsTer2
NM_000051.4:c.5538dup MANE Select	NP_000042.3:p.His1847SerfsTer2