Canonical Allele Identifier: CA2742038373

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[108272812_108272813insTG;108272815del] , CM000673.2:g.[108272812_108272813insTG;108272815del]	GRCh38
NC_000011.9:g.[108143539_108143540insTG;108143542del] , CM000673.1:g.[108143539_108143540insTG;108143542del]	GRCh37
NC_000011.8:g.[107648749_107648750insTG;107648752del]	NCBI36
NG_009830.1:g.[54981_54982insTG;54984del] , LRG_135:g.[54981_54982insTG;54984del]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.[3244_3245insTG;3247del]	ENSP00000388058.2:p.His1082_His1083delinsLeuIle
ENST00000713593.1:c.[*2715_*2716insTG;*2718del]	ENSP00000518889.1:n.[*2715_*2716insTG;*2718del]
ENST00000278616.9:c.[3244_3245insTG;3247del]	ENSP00000278616.4:p.His1082_His1083delinsLeuIle
ENST00000683174.1:n.[3394_3395insTG;3397del]
ENST00000527805.6:c.[3244_3245insTG;3247del]	ENSP00000435747.2:p.His1082_His1083delinsLeuIle
ENST00000675595.1:c.[3079_3080insTG;3082del]	ENSP00000502563.1:p.His1027_His1028delinsLeuIle
ENST00000675843.1:c.[3244_3245insTG;3247del] MANE Select	ENSP00000501606.1:p.His1082_His1083delinsLeuIle
ENST00000278616.8:c.[3244_3245insTG;3247del]	ENSP00000278616.4:p.His1082_His1083delinsLeuIle
ENST00000452508.6:c.[3244_3245insTG;3247del]	ENSP00000388058.2:p.His1082_His1083delinsLeuIle
ENST00000527805.5:c.[3244_3245insTG;3247del]	ENSP00000435747.1:p.His1082_His1083delinsLeuIle
NM_000051.3:c.[3244_3245insTG;3247del] , LRG_135t1:c.[3244_3245insTG;3247del]	NP_000042.3:p.His1082_His1083delinsLeuIle
XM_005271561.3:c.[3244_3245insTG;3247del]	XP_005271618.2:p.His1082_His1083delinsLeuIle
XM_005271562.3:c.[3244_3245insTG;3247del]	XP_005271619.2:p.His1082_His1083delinsLeuIle
XM_006718843.2:c.[3244_3245insTG;3247del]	XP_006718906.1:p.His1082_His1083delinsLeuIle
XM_011542840.1:c.[3244_3245insTG;3247del]	XP_011541142.1:p.His1082_His1083delinsLeuIle
XM_011542841.1:c.[3244_3245insTG;3247del]	XP_011541143.1:p.His1082_His1083delinsLeuIle
XM_011542842.1:c.[3079_3080insTG;3082del]	XP_011541144.1:p.His1027_His1028delinsLeuIle
XM_011542843.1:c.[3244_3245insTG;3247del]	XP_011541145.1:p.His1082_His1083delinsLeuIle
XM_011542844.1:c.[2200_2201insTG;2203del]	XP_011541146.1:p.His734_His735delinsLeuIle
XM_011542845.1:c.[1936_1937insTG;1939del]	XP_011541147.1:p.His646_His647delinsLeuIle
XM_011542846.1:c.[3244_3245insTG;3247del]	XP_011541148.1:p.His1082_His1083delinsLeuIle
NM_001351834.1:c.[3244_3245insTG;3247del]	NP_001338763.1:p.His1082_His1083delinsLeuIle
XM_005271562.5:c.[3244_3245insTG;3247del]	XP_005271619.2:p.His1082_His1083delinsLeuIle
XM_006718843.4:c.[3244_3245insTG;3247del]	XP_006718906.1:p.His1082_His1083delinsLeuIle
XM_011542840.3:c.[3244_3245insTG;3247del]	XP_011541142.1:p.His1082_His1083delinsLeuIle
XM_011542842.3:c.[3079_3080insTG;3082del]	XP_011541144.1:p.His1027_His1028delinsLeuIle
XM_011542843.2:c.[3244_3245insTG;3247del]	XP_011541145.1:p.His1082_His1083delinsLeuIle
XM_011542844.3:c.[2200_2201insTG;2203del]	XP_011541146.1:p.His734_His735delinsLeuIle
XM_011542845.2:c.[1936_1937insTG;1939del]	XP_011541147.1:p.His646_His647delinsLeuIle
XM_017017789.2:c.[3244_3245insTG;3247del]	XP_016873278.1:p.His1082_His1083delinsLeuIle
XM_017017790.2:c.[3244_3245insTG;3247del]	XP_016873279.1:p.His1082_His1083delinsLeuIle
XM_017017791.1:c.[3244_3245insTG;3247del]	XP_016873280.1:p.His1082_His1083delinsLeuIle
XM_017017792.2:c.[3244_3245insTG;3247del]	XP_016873281.1:p.His1082_His1083delinsLeuIle
XR_002957150.1:n.[3977_3978insTG;3980del]
NM_001351834.2:c.[3244_3245insTG;3247del]	NP_001338763.1:p.His1082_His1083delinsLeuIle
NM_000051.4:c.[3244_3245insTG;3247del] MANE Select	NP_000042.3:p.His1082_His1083delinsLeuIle