Canonical Allele Identifier: CA2580083283

Gene: ATM

Linked Data

• ClinVar Variation Id: 1968562
• ClinVar RCV Id: RCV002711883

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253979del , CM000673.2:g.108253979del	GRCh38
NC_000011.9:g.108124706del , CM000673.1:g.108124706del	GRCh37
NC_000011.8:g.107629916del	NCBI36
NG_009830.1:g.36148del , LRG_135:g.36148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2064del	ENSP00000388058.2:p.Glu688AspfsTer15
ENST00000713593.1:c.*1535del	ENSP00000518889.1:n.*1535del
ENST00000278616.9:c.2064del	ENSP00000278616.4:p.Glu688AspfsTer15
ENST00000682516.1:n.2198del
ENST00000683174.1:n.2214del
ENST00000683605.1:n.1559del
ENST00000684037.1:c.*999del	ENSP00000508245.1:n.*999del
ENST00000684061.1:n.2198del
ENST00000527805.6:c.2064del	ENSP00000435747.2:p.Glu688AspfsTer15
ENST00000675595.1:c.1899del	ENSP00000502563.1:p.Glu633AspfsTer15
ENST00000675843.1:c.2064del MANE Select	ENSP00000501606.1:p.Glu688AspfsTer15
ENST00000278616.8:c.2064del	ENSP00000278616.4:p.Glu688AspfsTer15
ENST00000452508.6:c.2064del	ENSP00000388058.2:p.Glu688AspfsTer15
ENST00000525012.5:n.241del
ENST00000527805.5:c.2064del	ENSP00000435747.1:p.Glu688AspfsTer15
ENST00000533526.1:n.217del
NM_000051.3:c.2064del , LRG_135t1:c.2064del	NP_000042.3:p.Glu688AspfsTer15
XM_005271561.3:c.2064del	XP_005271618.2:p.Glu688AspfsTer15
XM_005271562.3:c.2064del	XP_005271619.2:p.Glu688AspfsTer15
XM_006718843.2:c.2064del	XP_006718906.1:p.Glu688AspfsTer15
XM_011542840.1:c.2064del	XP_011541142.1:p.Glu688AspfsTer15
XM_011542841.1:c.2064del	XP_011541143.1:p.Glu688AspfsTer15
XM_011542842.1:c.1899del	XP_011541144.1:p.Glu633AspfsTer15
XM_011542843.1:c.2064del	XP_011541145.1:p.Glu688AspfsTer15
XM_011542844.1:c.1020del	XP_011541146.1:p.Glu340AspfsTer15
XM_011542845.1:c.756del	XP_011541147.1:p.Glu252AspfsTer15
XM_011542846.1:c.2064del	XP_011541148.1:p.Glu688AspfsTer15
NM_001351834.1:c.2064del	NP_001338763.1:p.Glu688AspfsTer15
XM_005271562.5:c.2064del	XP_005271619.2:p.Glu688AspfsTer15
XM_006718843.4:c.2064del	XP_006718906.1:p.Glu688AspfsTer15
XM_011542840.3:c.2064del	XP_011541142.1:p.Glu688AspfsTer15
XM_011542842.3:c.1899del	XP_011541144.1:p.Glu633AspfsTer15
XM_011542843.2:c.2064del	XP_011541145.1:p.Glu688AspfsTer15
XM_011542844.3:c.1020del	XP_011541146.1:p.Glu340AspfsTer15
XM_011542845.2:c.756del	XP_011541147.1:p.Glu252AspfsTer15
XM_017017789.2:c.2064del	XP_016873278.1:p.Glu688AspfsTer15
XM_017017790.2:c.2064del	XP_016873279.1:p.Glu688AspfsTer15
XM_017017791.1:c.2064del	XP_016873280.1:p.Glu688AspfsTer15
XM_017017792.2:c.2064del	XP_016873281.1:p.Glu688AspfsTer15
XR_002957150.1:n.2797del
NM_001351834.2:c.2064del	NP_001338763.1:p.Glu688AspfsTer15
NM_000051.4:c.2064del MANE Select	NP_000042.3:p.Glu688AspfsTer15