Canonical Allele Identifier: CA1139662312

Gene: ATM

Linked Data

• ClinVar Variation Id: 942409
• ClinVar RCV Id: RCV001212393
• dbSNP Id: rs2083321272

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299742_108299743delinsTC , CM000673.2:g.108299742_108299743delinsTC	GRCh38
NC_000011.9:g.108170469_108170470delinsTC , CM000673.1:g.108170469_108170470delinsTC	GRCh37
NC_000011.8:g.107675679_107675680delinsTC	NCBI36
NG_009830.1:g.81911_81912delinsTC , LRG_135:g.81911_81912delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5034_5035delinsTC	ENSP00000388058.2:p.Gly1679Arg
ENST00000713593.1:c.*4505_*4506delinsTC	ENSP00000518889.1:n.*4505_*4506delinsTC
ENST00000278616.9:c.5034_5035delinsTC	ENSP00000278616.4:p.Gly1679Arg
ENST00000683174.1:n.6518_6519delinsTC
ENST00000683524.1:n.258_259delinsTC
ENST00000684152.1:n.748_749delinsTC
ENST00000527805.6:c.*98_*99delinsTC	ENSP00000435747.2:n.*98_*99delinsTC
ENST00000675595.1:c.*98_*99delinsTC	ENSP00000502563.1:n.*98_*99delinsTC
ENST00000675843.1:c.5034_5035delinsTC MANE Select	ENSP00000501606.1:p.Gly1679Arg
ENST00000278616.8:c.5034_5035delinsTC	ENSP00000278616.4:p.Gly1679Arg
ENST00000452508.6:c.5034_5035delinsTC	ENSP00000388058.2:p.Gly1679Arg
ENST00000524792.5:n.1249_1250delinsTC
ENST00000533690.5:n.438_439delinsTC
ENST00000534625.1:n.263_264delinsTC
NM_000051.3:c.5034_5035delinsTC , LRG_135t1:c.5034_5035delinsTC	NP_000042.3:p.Gly1679Arg
XM_005271561.3:c.5034_5035delinsTC	XP_005271618.2:p.Gly1679Arg
XM_005271562.3:c.5034_5035delinsTC	XP_005271619.2:p.Gly1679Arg
XM_006718843.2:c.5034_5035delinsTC	XP_006718906.1:p.Gly1679Arg
XM_006718845.1:c.990_991delinsTC	XP_006718908.1:p.Gly331Arg
XM_011542840.1:c.5034_5035delinsTC	XP_011541142.1:p.Gly1679Arg
XM_011542841.1:c.5034_5035delinsTC	XP_011541143.1:p.Gly1679Arg
XM_011542842.1:c.4869_4870delinsTC	XP_011541144.1:p.Gly1624Arg
XM_011542843.1:c.5034_5035delinsTC	XP_011541145.1:p.Gly1679Arg
XM_011542844.1:c.3990_3991delinsTC	XP_011541146.1:p.Gly1331Arg
XM_011542845.1:c.3726_3727delinsTC	XP_011541147.1:p.Gly1243Arg
XM_011542846.1:c.5034_5035delinsTC	XP_011541148.1:p.Gly1679Arg
XM_011542847.1:c.105_106delinsTC	XP_011541149.1:p.Gly36Arg
NM_001351834.1:c.5034_5035delinsTC	NP_001338763.1:p.Gly1679Arg
XM_005271562.5:c.5034_5035delinsTC	XP_005271619.2:p.Gly1679Arg
XM_006718843.4:c.5034_5035delinsTC	XP_006718906.1:p.Gly1679Arg
XM_006718845.2:c.990_991delinsTC	XP_006718908.1:p.Gly331Arg
XM_011542840.3:c.5034_5035delinsTC	XP_011541142.1:p.Gly1679Arg
XM_011542842.3:c.4869_4870delinsTC	XP_011541144.1:p.Gly1624Arg
XM_011542843.2:c.5034_5035delinsTC	XP_011541145.1:p.Gly1679Arg
XM_011542844.3:c.3990_3991delinsTC	XP_011541146.1:p.Gly1331Arg
XM_011542845.2:c.3726_3727delinsTC	XP_011541147.1:p.Gly1243Arg
XM_017017789.2:c.5034_5035delinsTC	XP_016873278.1:p.Gly1679Arg
XM_017017790.2:c.5034_5035delinsTC	XP_016873279.1:p.Gly1679Arg
XM_017017791.1:c.5034_5035delinsTC	XP_016873280.1:p.Gly1679Arg
XM_017017792.2:c.5034_5035delinsTC	XP_016873281.1:p.Gly1679Arg
XR_002957150.1:n.5634_5635delinsTC
NM_001351834.2:c.5034_5035delinsTC	NP_001338763.1:p.Gly1679Arg
NM_000051.4:c.5034_5035delinsTC MANE Select	NP_000042.3:p.Gly1679Arg