Canonical Allele Identifier: CA2695198970

Gene: ATM

Linked Data

• ClinVar Variation Id: 2673530
• ClinVar RCV Id: RCV003450208

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268434_108268435delinsT , CM000673.2:g.108268434_108268435delinsT	GRCh38
NC_000011.9:g.108139161_108139162delinsT , CM000673.1:g.108139161_108139162delinsT	GRCh37
NC_000011.8:g.107644371_107644372delinsT	NCBI36
NG_009830.1:g.50603_50604delinsT , LRG_135:g.50603_50604delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2663_2664delinsT	ENSP00000388058.2:p.Glu888ValfsTer11
ENST00000713593.1:c.*2134_*2135delinsT	ENSP00000518889.1:n.*2134_*2135delinsT
ENST00000278616.9:c.2663_2664delinsT	ENSP00000278616.4:p.Glu888ValfsTer11
ENST00000682516.1:n.2772+1092_2772+1093delinsT
ENST00000683174.1:n.2813_2814delinsT
ENST00000684037.1:c.*1573+1092_*1573+1093delinsT	ENSP00000508245.1:n.*1573+1092_*1573+1093delinsT
ENST00000527805.6:c.2663_2664delinsT	ENSP00000435747.2:p.Glu888ValfsTer11
ENST00000675595.1:c.2498_2499delinsT	ENSP00000502563.1:p.Glu833ValfsTer11
ENST00000675843.1:c.2663_2664delinsT MANE Select	ENSP00000501606.1:p.Glu888ValfsTer11
ENST00000278616.8:c.2663_2664delinsT	ENSP00000278616.4:p.Glu888ValfsTer11
ENST00000419286.2:n.25_26delinsT
ENST00000452508.6:c.2663_2664delinsT	ENSP00000388058.2:p.Glu888ValfsTer11
ENST00000527805.5:c.2663_2664delinsT	ENSP00000435747.1:p.Glu888ValfsTer11
NM_000051.3:c.2663_2664delinsT , LRG_135t1:c.2663_2664delinsT	NP_000042.3:p.Glu888ValfsTer11
XM_005271561.3:c.2663_2664delinsT	XP_005271618.2:p.Glu888ValfsTer11
XM_005271562.3:c.2663_2664delinsT	XP_005271619.2:p.Glu888ValfsTer11
XM_006718843.2:c.2663_2664delinsT	XP_006718906.1:p.Glu888ValfsTer11
XM_011542840.1:c.2663_2664delinsT	XP_011541142.1:p.Glu888ValfsTer11
XM_011542841.1:c.2663_2664delinsT	XP_011541143.1:p.Glu888ValfsTer11
XM_011542842.1:c.2498_2499delinsT	XP_011541144.1:p.Glu833ValfsTer11
XM_011542843.1:c.2663_2664delinsT	XP_011541145.1:p.Glu888ValfsTer11
XM_011542844.1:c.1619_1620delinsT	XP_011541146.1:p.Glu540ValfsTer11
XM_011542845.1:c.1355_1356delinsT	XP_011541147.1:p.Glu452ValfsTer11
XM_011542846.1:c.2663_2664delinsT	XP_011541148.1:p.Glu888ValfsTer11
NM_001351834.1:c.2663_2664delinsT	NP_001338763.1:p.Glu888ValfsTer11
XM_005271562.5:c.2663_2664delinsT	XP_005271619.2:p.Glu888ValfsTer11
XM_006718843.4:c.2663_2664delinsT	XP_006718906.1:p.Glu888ValfsTer11
XM_011542840.3:c.2663_2664delinsT	XP_011541142.1:p.Glu888ValfsTer11
XM_011542842.3:c.2498_2499delinsT	XP_011541144.1:p.Glu833ValfsTer11
XM_011542843.2:c.2663_2664delinsT	XP_011541145.1:p.Glu888ValfsTer11
XM_011542844.3:c.1619_1620delinsT	XP_011541146.1:p.Glu540ValfsTer11
XM_011542845.2:c.1355_1356delinsT	XP_011541147.1:p.Glu452ValfsTer11
XM_017017789.2:c.2663_2664delinsT	XP_016873278.1:p.Glu888ValfsTer11
XM_017017790.2:c.2663_2664delinsT	XP_016873279.1:p.Glu888ValfsTer11
XM_017017791.1:c.2663_2664delinsT	XP_016873280.1:p.Glu888ValfsTer11
XM_017017792.2:c.2663_2664delinsT	XP_016873281.1:p.Glu888ValfsTer11
XR_002957150.1:n.3396_3397delinsT
NM_001351834.2:c.2663_2664delinsT	NP_001338763.1:p.Glu888ValfsTer11
NM_000051.4:c.2663_2664delinsT MANE Select	NP_000042.3:p.Glu888ValfsTer11