Canonical Allele Identifier: CA2580083218

Gene: ATM

Linked Data

• ClinVar Variation Id: 1739120
• ClinVar RCV Id: RCV002329895

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289621_108289623delinsCTT , CM000673.2:g.108289621_108289623delinsCTT	GRCh38
NC_000011.9:g.108160348_108160350delinsCTT , CM000673.1:g.108160348_108160350delinsCTT	GRCh37
NC_000011.8:g.107665558_107665560delinsCTT	NCBI36
NG_009830.1:g.71790_71792delinsCTT , LRG_135:g.71790_71792delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4256_4258delinsCTT	ENSP00000388058.2:p.Leu1419_Leu1420delins...
ENST00000713593.1:c.*3727_*3729delinsCTT	ENSP00000518889.1:n.*3727_*3729delinsCTT
ENST00000278616.9:c.4256_4258delinsCTT	ENSP00000278616.4:p.Leu1419_Leu1420delins...
ENST00000533733.6:n.1519_1521delinsCTT
ENST00000683174.1:n.4406_4408delinsCTT
ENST00000527805.6:c.4256_4258delinsCTT	ENSP00000435747.2:p.Leu1419_Leu1420delins...
ENST00000675595.1:c.4091_4093delinsCTT	ENSP00000502563.1:p.Leu1364_Leu1365delins...
ENST00000675843.1:c.4256_4258delinsCTT MANE Select	ENSP00000501606.1:p.Leu1419_Leu1420delins...
ENST00000278616.8:c.4256_4258delinsCTT	ENSP00000278616.4:p.Leu1419_Leu1420delins...
ENST00000452508.6:c.4256_4258delinsCTT	ENSP00000388058.2:p.Leu1419_Leu1420delins...
ENST00000524792.5:n.471_473delinsCTT
ENST00000531525.2:c.263_265delinsCTT	ENSP00000434327.2:p.Leu88_Leu89delinsProP...
ENST00000533733.5:n.685_687delinsCTT
NM_000051.3:c.4256_4258delinsCTT , LRG_135t1:c.4256_4258delinsCTT	NP_000042.3:p.Leu1419_Leu1420delinsProPhe...
XM_005271561.3:c.4256_4258delinsCTT	XP_005271618.2:p.Leu1419_Leu1420delinsPro...
XM_005271562.3:c.4256_4258delinsCTT	XP_005271619.2:p.Leu1419_Leu1420delinsPro...
XM_006718843.2:c.4256_4258delinsCTT	XP_006718906.1:p.Leu1419_Leu1420delinsPro...
XM_006718845.1:c.212_214delinsCTT	XP_006718908.1:p.Leu71_Leu72delinsProPhe
XM_011542840.1:c.4256_4258delinsCTT	XP_011541142.1:p.Leu1419_Leu1420delinsPro...
XM_011542841.1:c.4256_4258delinsCTT	XP_011541143.1:p.Leu1419_Leu1420delinsPro...
XM_011542842.1:c.4091_4093delinsCTT	XP_011541144.1:p.Leu1364_Leu1365delinsPro...
XM_011542843.1:c.4256_4258delinsCTT	XP_011541145.1:p.Leu1419_Leu1420delinsPro...
XM_011542844.1:c.3212_3214delinsCTT	XP_011541146.1:p.Leu1071_Leu1072delinsPro...
XM_011542845.1:c.2948_2950delinsCTT	XP_011541147.1:p.Leu983_Leu984delinsProPh...
XM_011542846.1:c.4256_4258delinsCTT	XP_011541148.1:p.Leu1419_Leu1420delinsPro...
NM_001351834.1:c.4256_4258delinsCTT	NP_001338763.1:p.Leu1419_Leu1420delinsPro...
XM_005271562.5:c.4256_4258delinsCTT	XP_005271619.2:p.Leu1419_Leu1420delinsPro...
XM_006718843.4:c.4256_4258delinsCTT	XP_006718906.1:p.Leu1419_Leu1420delinsPro...
XM_006718845.2:c.212_214delinsCTT	XP_006718908.1:p.Leu71_Leu72delinsProPhe
XM_011542840.3:c.4256_4258delinsCTT	XP_011541142.1:p.Leu1419_Leu1420delinsPro...
XM_011542842.3:c.4091_4093delinsCTT	XP_011541144.1:p.Leu1364_Leu1365delinsPro...
XM_011542843.2:c.4256_4258delinsCTT	XP_011541145.1:p.Leu1419_Leu1420delinsPro...
XM_011542844.3:c.3212_3214delinsCTT	XP_011541146.1:p.Leu1071_Leu1072delinsPro...
XM_011542845.2:c.2948_2950delinsCTT	XP_011541147.1:p.Leu983_Leu984delinsProPh...
XM_017017789.2:c.4256_4258delinsCTT	XP_016873278.1:p.Leu1419_Leu1420delinsPro...
XM_017017790.2:c.4256_4258delinsCTT	XP_016873279.1:p.Leu1419_Leu1420delinsPro...
XM_017017791.1:c.4256_4258delinsCTT	XP_016873280.1:p.Leu1419_Leu1420delinsPro...
XM_017017792.2:c.4256_4258delinsCTT	XP_016873281.1:p.Leu1419_Leu1420delinsPro...
XR_002957150.1:n.4989_4991delinsCTT
NM_001351834.2:c.4256_4258delinsCTT	NP_001338763.1:p.Leu1419_Leu1420delinsPro...
NM_000051.4:c.4256_4258delinsCTT MANE Select	NP_000042.3:p.Leu1419_Leu1420delinsProPhe...