Canonical Allele Identifier: CA2558629416

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304748_108304749insTAAAAG , CM000673.2:g.108304748_108304749insTAAAAG	GRCh38
NC_000011.9:g.108175475_108175476insTAAAAG , CM000673.1:g.108175475_108175476insTAAAAG	GRCh37
NC_000011.8:g.107680685_107680686insTAAAAG	NCBI36
NG_009830.1:g.86917_86918insTAAAAG , LRG_135:g.86917_86918insTAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5570_5571insTAAAAG	ENSP00000388058.2:p.Ser1857_Trp1858insLysArg
ENST00000713593.1:c.*5041_*5042insTAAAAG	ENSP00000518889.1:n.*5041_*5042insTAAAAG
ENST00000278616.9:c.5570_5571insTAAAAG	ENSP00000278616.4:p.Ser1857_Trp1858insLysArg
ENST00000683174.1:n.7054_7055insTAAAAG
ENST00000683524.1:n.794_795insTAAAAG
ENST00000684152.1:n.1284_1285insTAAAAG
ENST00000527805.6:c.*634_*635insTAAAAG	ENSP00000435747.2:n.*634_*635insTAAAAG
ENST00000675595.1:c.*634_*635insTAAAAG	ENSP00000502563.1:n.*634_*635insTAAAAG
ENST00000675843.1:c.5570_5571insTAAAAG MANE Select	ENSP00000501606.1:p.Ser1857_Trp1858insLysArg
ENST00000278616.8:c.5570_5571insTAAAAG	ENSP00000278616.4:p.Ser1857_Trp1858insLysArg
ENST00000452508.6:c.5570_5571insTAAAAG	ENSP00000388058.2:p.Ser1857_Trp1858insLysArg
ENST00000524792.5:n.1785_1786insTAAAAG
ENST00000529588.5:c.82_83insTAAAAG
ENST00000533690.5:n.974_975insTAAAAG
NM_000051.3:c.5570_5571insTAAAAG , LRG_135t1:c.5570_5571insTAAAAG	NP_000042.3:p.Ser1857_Trp1858insLysArg
XM_005271561.3:c.5570_5571insTAAAAG	XP_005271618.2:p.Ser1857_Trp1858insLysArg
XM_005271562.3:c.5570_5571insTAAAAG	XP_005271619.2:p.Ser1857_Trp1858insLysArg
XM_006718843.2:c.5570_5571insTAAAAG	XP_006718906.1:p.Ser1857_Trp1858insLysArg
XM_006718845.1:c.1526_1527insTAAAAG	XP_006718908.1:p.Ser509_Trp510insLysArg
XM_011542840.1:c.5570_5571insTAAAAG	XP_011541142.1:p.Ser1857_Trp1858insLysArg
XM_011542841.1:c.5570_5571insTAAAAG	XP_011541143.1:p.Ser1857_Trp1858insLysArg
XM_011542842.1:c.5405_5406insTAAAAG	XP_011541144.1:p.Ser1802_Trp1803insLysArg
XM_011542843.1:c.5570_5571insTAAAAG	XP_011541145.1:p.Ser1857_Trp1858insLysArg
XM_011542844.1:c.4526_4527insTAAAAG	XP_011541146.1:p.Ser1509_Trp1510insLysArg
XM_011542845.1:c.4262_4263insTAAAAG	XP_011541147.1:p.Ser1421_Trp1422insLysArg
XM_011542847.1:c.641_642insTAAAAG	XP_011541149.1:p.Ser214_Trp215insLysArg
NM_001351834.1:c.5570_5571insTAAAAG	NP_001338763.1:p.Ser1857_Trp1858insLysArg
XM_005271562.5:c.5570_5571insTAAAAG	XP_005271619.2:p.Ser1857_Trp1858insLysArg
XM_006718843.4:c.5570_5571insTAAAAG	XP_006718906.1:p.Ser1857_Trp1858insLysArg
XM_006718845.2:c.1526_1527insTAAAAG	XP_006718908.1:p.Ser509_Trp510insLysArg
XM_011542840.3:c.5570_5571insTAAAAG	XP_011541142.1:p.Ser1857_Trp1858insLysArg
XM_011542842.3:c.5405_5406insTAAAAG	XP_011541144.1:p.Ser1802_Trp1803insLysArg
XM_011542843.2:c.5570_5571insTAAAAG	XP_011541145.1:p.Ser1857_Trp1858insLysArg
XM_011542844.3:c.4526_4527insTAAAAG	XP_011541146.1:p.Ser1509_Trp1510insLysArg
XM_011542845.2:c.4262_4263insTAAAAG	XP_011541147.1:p.Ser1421_Trp1422insLysArg
XM_017017789.2:c.5570_5571insTAAAAG	XP_016873278.1:p.Ser1857_Trp1858insLysArg
XM_017017790.2:c.5570_5571insTAAAAG	XP_016873279.1:p.Ser1857_Trp1858insLysArg
XM_017017791.1:c.5570_5571insTAAAAG	XP_016873280.1:p.Ser1857_Trp1858insLysArg
XR_002957150.1:n.6170_6171insTAAAAG
NM_001351834.2:c.5570_5571insTAAAAG	NP_001338763.1:p.Ser1857_Trp1858insLysArg
NM_000051.4:c.5570_5571insTAAAAG MANE Select	NP_000042.3:p.Ser1857_Trp1858insLysArg