Canonical Allele Identifier: CA2695215259

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108272813_108272816dup , CM000673.2:g.108272813_108272816dup	GRCh38
NC_000011.9:g.108143540_108143543dup , CM000673.1:g.108143540_108143543dup	GRCh37
NC_000011.8:g.107648750_107648753dup	NCBI36
NG_009830.1:g.54982_54985dup , LRG_135:g.54982_54985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3245_3248dup	ENSP00000388058.2:p.His1083GlnfsTer14
ENST00000713593.1:c.*2716_*2719dup	ENSP00000518889.1:n.*2716_*2719dup
ENST00000278616.9:c.3245_3248dup	ENSP00000278616.4:p.His1083GlnfsTer14
ENST00000683174.1:n.3395_3398dup
ENST00000527805.6:c.3245_3248dup	ENSP00000435747.2:p.His1083GlnfsTer14
ENST00000675595.1:c.3080_3083dup	ENSP00000502563.1:p.His1028GlnfsTer14
ENST00000675843.1:c.3245_3248dup MANE Select	ENSP00000501606.1:p.His1083GlnfsTer14
ENST00000278616.8:c.3245_3248dup	ENSP00000278616.4:p.His1083GlnfsTer14
ENST00000452508.6:c.3245_3248dup	ENSP00000388058.2:p.His1083GlnfsTer14
ENST00000527805.5:c.3245_3248dup	ENSP00000435747.1:p.His1083GlnfsTer14
NM_000051.3:c.3245_3248dup , LRG_135t1:c.3245_3248dup	NP_000042.3:p.His1083GlnfsTer14
XM_005271561.3:c.3245_3248dup	XP_005271618.2:p.His1083GlnfsTer14
XM_005271562.3:c.3245_3248dup	XP_005271619.2:p.His1083GlnfsTer14
XM_006718843.2:c.3245_3248dup	XP_006718906.1:p.His1083GlnfsTer14
XM_011542840.1:c.3245_3248dup	XP_011541142.1:p.His1083GlnfsTer14
XM_011542841.1:c.3245_3248dup	XP_011541143.1:p.His1083GlnfsTer14
XM_011542842.1:c.3080_3083dup	XP_011541144.1:p.His1028GlnfsTer14
XM_011542843.1:c.3245_3248dup	XP_011541145.1:p.His1083GlnfsTer14
XM_011542844.1:c.2201_2204dup	XP_011541146.1:p.His735GlnfsTer14
XM_011542845.1:c.1937_1940dup	XP_011541147.1:p.His647GlnfsTer14
XM_011542846.1:c.3245_3248dup	XP_011541148.1:p.His1083GlnfsTer14
NM_001351834.1:c.3245_3248dup	NP_001338763.1:p.His1083GlnfsTer14
XM_005271562.5:c.3245_3248dup	XP_005271619.2:p.His1083GlnfsTer14
XM_006718843.4:c.3245_3248dup	XP_006718906.1:p.His1083GlnfsTer14
XM_011542840.3:c.3245_3248dup	XP_011541142.1:p.His1083GlnfsTer14
XM_011542842.3:c.3080_3083dup	XP_011541144.1:p.His1028GlnfsTer14
XM_011542843.2:c.3245_3248dup	XP_011541145.1:p.His1083GlnfsTer14
XM_011542844.3:c.2201_2204dup	XP_011541146.1:p.His735GlnfsTer14
XM_011542845.2:c.1937_1940dup	XP_011541147.1:p.His647GlnfsTer14
XM_017017789.2:c.3245_3248dup	XP_016873278.1:p.His1083GlnfsTer14
XM_017017790.2:c.3245_3248dup	XP_016873279.1:p.His1083GlnfsTer14
XM_017017791.1:c.3245_3248dup	XP_016873280.1:p.His1083GlnfsTer14
XM_017017792.2:c.3245_3248dup	XP_016873281.1:p.His1083GlnfsTer14
XR_002957150.1:n.3978_3981dup
NM_001351834.2:c.3245_3248dup	NP_001338763.1:p.His1083GlnfsTer14
NM_000051.4:c.3245_3248dup MANE Select	NP_000042.3:p.His1083GlnfsTer14