Canonical Allele Identifier: CA2499220579

Gene: ATM

Linked Data

• ClinVar Variation Id: 1075821
• ClinVar RCV Id: RCV001389518
• dbSNP Id: rs2135505571

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267191dup , CM000673.2:g.108267191dup	GRCh38
NC_000011.9:g.108137918dup , CM000673.1:g.108137918dup	GRCh37
NC_000011.8:g.107643128dup	NCBI36
NG_009830.1:g.49360dup , LRG_135:g.49360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2487dup	ENSP00000388058.2:p.Phe830IlefsTer2
ENST00000713593.1:c.*1958dup	ENSP00000518889.1:n.*1958dup
ENST00000278616.9:c.2487dup	ENSP00000278616.4:p.Phe830IlefsTer2
ENST00000682516.1:n.2621dup
ENST00000683174.1:n.2637dup
ENST00000683605.1:n.1982dup
ENST00000684037.1:c.*1422dup	ENSP00000508245.1:n.*1422dup
ENST00000527805.6:c.2487dup	ENSP00000435747.2:p.Phe830IlefsTer2
ENST00000675595.1:c.2322dup	ENSP00000502563.1:p.Phe775IlefsTer2
ENST00000675843.1:c.2487dup MANE Select	ENSP00000501606.1:p.Phe830IlefsTer2
ENST00000278616.8:c.2487dup	ENSP00000278616.4:p.Phe830IlefsTer2
ENST00000452508.6:c.2487dup	ENSP00000388058.2:p.Phe830IlefsTer2
ENST00000527805.5:c.2487dup	ENSP00000435747.1:p.Phe830IlefsTer2
NM_000051.3:c.2487dup , LRG_135t1:c.2487dup	NP_000042.3:p.Phe830IlefsTer2
XM_005271561.3:c.2487dup	XP_005271618.2:p.Phe830IlefsTer2
XM_005271562.3:c.2487dup	XP_005271619.2:p.Phe830IlefsTer2
XM_006718843.2:c.2487dup	XP_006718906.1:p.Phe830IlefsTer2
XM_011542840.1:c.2487dup	XP_011541142.1:p.Phe830IlefsTer2
XM_011542841.1:c.2487dup	XP_011541143.1:p.Phe830IlefsTer2
XM_011542842.1:c.2322dup	XP_011541144.1:p.Phe775IlefsTer2
XM_011542843.1:c.2487dup	XP_011541145.1:p.Phe830IlefsTer2
XM_011542844.1:c.1443dup	XP_011541146.1:p.Phe482IlefsTer2
XM_011542845.1:c.1179dup	XP_011541147.1:p.Phe394IlefsTer2
XM_011542846.1:c.2487dup	XP_011541148.1:p.Phe830IlefsTer2
NM_001351834.1:c.2487dup	NP_001338763.1:p.Phe830IlefsTer2
XM_005271562.5:c.2487dup	XP_005271619.2:p.Phe830IlefsTer2
XM_006718843.4:c.2487dup	XP_006718906.1:p.Phe830IlefsTer2
XM_011542840.3:c.2487dup	XP_011541142.1:p.Phe830IlefsTer2
XM_011542842.3:c.2322dup	XP_011541144.1:p.Phe775IlefsTer2
XM_011542843.2:c.2487dup	XP_011541145.1:p.Phe830IlefsTer2
XM_011542844.3:c.1443dup	XP_011541146.1:p.Phe482IlefsTer2
XM_011542845.2:c.1179dup	XP_011541147.1:p.Phe394IlefsTer2
XM_017017789.2:c.2487dup	XP_016873278.1:p.Phe830IlefsTer2
XM_017017790.2:c.2487dup	XP_016873279.1:p.Phe830IlefsTer2
XM_017017791.1:c.2487dup	XP_016873280.1:p.Phe830IlefsTer2
XM_017017792.2:c.2487dup	XP_016873281.1:p.Phe830IlefsTer2
XR_002957150.1:n.3220dup
NM_001351834.2:c.2487dup	NP_001338763.1:p.Phe830IlefsTer2
NM_000051.4:c.2487dup MANE Select	NP_000042.3:p.Phe830IlefsTer2