Canonical Allele Identifier: CA1998785241

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289694_108289698delinsCCTGT , CM000673.2:g.108289694_108289698delinsCCTGT	GRCh38
NC_000011.9:g.108160421_108160425delinsCCTGT , CM000673.1:g.108160421_108160425delinsCCTGT	GRCh37
NC_000011.8:g.107665631_107665635delinsCCTGT	NCBI36
NG_009830.1:g.71863_71867delinsCCTGT , LRG_135:g.71863_71867delinsCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4329_4333delinsCCTGT	ENSP00000388058.2:p.His1443=
ENST00000713593.1:c.*3800_*3804delinsCCTGT	ENSP00000518889.1:n.*3800_*3804delinsCCTGT
ENST00000278616.9:c.4329_4333delinsCCTGT	ENSP00000278616.4:p.His1443=
ENST00000533733.6:n.1592_1596delinsCCTGT
ENST00000683174.1:n.4479_4483delinsCCTGT
ENST00000527805.6:c.4329_4333delinsCCTGT	ENSP00000435747.2:p.His1443=
ENST00000675595.1:c.4164_4168delinsCCTGT	ENSP00000502563.1:p.His1388=
ENST00000675843.1:c.4329_4333delinsCCTGT MANE Select	ENSP00000501606.1:p.His1443=
ENST00000278616.8:c.4329_4333delinsCCTGT	ENSP00000278616.4:p.His1443=
ENST00000452508.6:c.4329_4333delinsCCTGT	ENSP00000388058.2:p.His1443=
ENST00000524792.5:n.544_548delinsCCTGT
ENST00000531525.2:c.336_340delinsCCTGT	ENSP00000434327.2:p.His112=
ENST00000533733.5:n.758_762delinsCCTGT
NM_000051.3:c.4329_4333delinsCCTGT , LRG_135t1:c.4329_4333delinsCCTGT	NP_000042.3:p.His1443=
XM_005271561.3:c.4329_4333delinsCCTGT	XP_005271618.2:p.His1443=
XM_005271562.3:c.4329_4333delinsCCTGT	XP_005271619.2:p.His1443=
XM_006718843.2:c.4329_4333delinsCCTGT	XP_006718906.1:p.His1443=
XM_006718845.1:c.285_289delinsCCTGT	XP_006718908.1:p.His95=
XM_011542840.1:c.4329_4333delinsCCTGT	XP_011541142.1:p.His1443=
XM_011542841.1:c.4329_4333delinsCCTGT	XP_011541143.1:p.His1443=
XM_011542842.1:c.4164_4168delinsCCTGT	XP_011541144.1:p.His1388=
XM_011542843.1:c.4329_4333delinsCCTGT	XP_011541145.1:p.His1443=
XM_011542844.1:c.3285_3289delinsCCTGT	XP_011541146.1:p.His1095=
XM_011542845.1:c.3021_3025delinsCCTGT	XP_011541147.1:p.His1007=
XM_011542846.1:c.4329_4333delinsCCTGT	XP_011541148.1:p.His1443=
NM_001351834.1:c.4329_4333delinsCCTGT	NP_001338763.1:p.His1443=
XM_005271562.5:c.4329_4333delinsCCTGT	XP_005271619.2:p.His1443=
XM_006718843.4:c.4329_4333delinsCCTGT	XP_006718906.1:p.His1443=
XM_006718845.2:c.285_289delinsCCTGT	XP_006718908.1:p.His95=
XM_011542840.3:c.4329_4333delinsCCTGT	XP_011541142.1:p.His1443=
XM_011542842.3:c.4164_4168delinsCCTGT	XP_011541144.1:p.His1388=
XM_011542843.2:c.4329_4333delinsCCTGT	XP_011541145.1:p.His1443=
XM_011542844.3:c.3285_3289delinsCCTGT	XP_011541146.1:p.His1095=
XM_011542845.2:c.3021_3025delinsCCTGT	XP_011541147.1:p.His1007=
XM_017017789.2:c.4329_4333delinsCCTGT	XP_016873278.1:p.His1443=
XM_017017790.2:c.4329_4333delinsCCTGT	XP_016873279.1:p.His1443=
XM_017017791.1:c.4329_4333delinsCCTGT	XP_016873280.1:p.His1443=
XM_017017792.2:c.4329_4333delinsCCTGT	XP_016873281.1:p.His1443=
XR_002957150.1:n.5062_5066delinsCCTGT
NM_001351834.2:c.4329_4333delinsCCTGT	NP_001338763.1:p.His1443=
NM_000051.4:c.4329_4333delinsCCTGT MANE Select	NP_000042.3:p.His1443=