Canonical Allele Identifier: CA1998796438

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299742_108299743delinsGG , CM000673.2:g.108299742_108299743delinsGG	GRCh38
NC_000011.9:g.108170469_108170470delinsGG , CM000673.1:g.108170469_108170470delinsGG	GRCh37
NC_000011.8:g.107675679_107675680delinsGG	NCBI36
NG_009830.1:g.81911_81912delinsGG , LRG_135:g.81911_81912delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5034_5035delinsGG	ENSP00000388058.2:p.Val1678=
ENST00000713593.1:c.*4505_*4506delinsGG	ENSP00000518889.1:n.*4505_*4506delinsGG
ENST00000278616.9:c.5034_5035delinsGG	ENSP00000278616.4:p.Val1678=
ENST00000683174.1:n.6518_6519delinsGG
ENST00000683524.1:n.258_259delinsGG
ENST00000684152.1:n.748_749delinsGG
ENST00000527805.6:c.*98_*99delinsGG	ENSP00000435747.2:n.*98_*99delinsGG
ENST00000675595.1:c.*98_*99delinsGG	ENSP00000502563.1:n.*98_*99delinsGG
ENST00000675843.1:c.5034_5035delinsGG MANE Select	ENSP00000501606.1:p.Val1678=
ENST00000278616.8:c.5034_5035delinsGG	ENSP00000278616.4:p.Val1678=
ENST00000452508.6:c.5034_5035delinsGG	ENSP00000388058.2:p.Val1678=
ENST00000524792.5:n.1249_1250delinsGG
ENST00000533690.5:n.438_439delinsGG
ENST00000534625.1:n.263_264delinsGG
NM_000051.3:c.5034_5035delinsGG , LRG_135t1:c.5034_5035delinsGG	NP_000042.3:p.Val1678=
XM_005271561.3:c.5034_5035delinsGG	XP_005271618.2:p.Val1678=
XM_005271562.3:c.5034_5035delinsGG	XP_005271619.2:p.Val1678=
XM_006718843.2:c.5034_5035delinsGG	XP_006718906.1:p.Val1678=
XM_006718845.1:c.990_991delinsGG	XP_006718908.1:p.Val330=
XM_011542840.1:c.5034_5035delinsGG	XP_011541142.1:p.Val1678=
XM_011542841.1:c.5034_5035delinsGG	XP_011541143.1:p.Val1678=
XM_011542842.1:c.4869_4870delinsGG	XP_011541144.1:p.Val1623=
XM_011542843.1:c.5034_5035delinsGG	XP_011541145.1:p.Val1678=
XM_011542844.1:c.3990_3991delinsGG	XP_011541146.1:p.Val1330=
XM_011542845.1:c.3726_3727delinsGG	XP_011541147.1:p.Val1242=
XM_011542846.1:c.5034_5035delinsGG	XP_011541148.1:p.Val1678=
XM_011542847.1:c.105_106delinsGG	XP_011541149.1:p.Val35=
NM_001351834.1:c.5034_5035delinsGG	NP_001338763.1:p.Val1678=
XM_005271562.5:c.5034_5035delinsGG	XP_005271619.2:p.Val1678=
XM_006718843.4:c.5034_5035delinsGG	XP_006718906.1:p.Val1678=
XM_006718845.2:c.990_991delinsGG	XP_006718908.1:p.Val330=
XM_011542840.3:c.5034_5035delinsGG	XP_011541142.1:p.Val1678=
XM_011542842.3:c.4869_4870delinsGG	XP_011541144.1:p.Val1623=
XM_011542843.2:c.5034_5035delinsGG	XP_011541145.1:p.Val1678=
XM_011542844.3:c.3990_3991delinsGG	XP_011541146.1:p.Val1330=
XM_011542845.2:c.3726_3727delinsGG	XP_011541147.1:p.Val1242=
XM_017017789.2:c.5034_5035delinsGG	XP_016873278.1:p.Val1678=
XM_017017790.2:c.5034_5035delinsGG	XP_016873279.1:p.Val1678=
XM_017017791.1:c.5034_5035delinsGG	XP_016873280.1:p.Val1678=
XM_017017792.2:c.5034_5035delinsGG	XP_016873281.1:p.Val1678=
XR_002957150.1:n.5634_5635delinsGG
NM_001351834.2:c.5034_5035delinsGG	NP_001338763.1:p.Val1678=
NM_000051.4:c.5034_5035delinsGG MANE Select	NP_000042.3:p.Val1678=