Canonical Allele Identifier: CA1998795471

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287698_108287700delinsCCT , CM000673.2:g.108287698_108287700delinsCCT	GRCh38
NC_000011.9:g.108158425_108158427delinsCCT , CM000673.1:g.108158425_108158427delinsCCT	GRCh37
NC_000011.8:g.107663635_107663637delinsCCT	NCBI36
NG_009830.1:g.69867_69869delinsCCT , LRG_135:g.69867_69869delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4092_4094delinsCCT	ENSP00000388058.2:p.Asp1364=
ENST00000713593.1:c.*3563_*3565delinsCCT	ENSP00000518889.1:n.*3563_*3565delinsCCT
ENST00000278616.9:c.4092_4094delinsCCT	ENSP00000278616.4:p.Asp1364=
ENST00000533733.6:n.1355_1357delinsCCT
ENST00000683174.1:n.4242_4244delinsCCT
ENST00000527805.6:c.4092_4094delinsCCT	ENSP00000435747.2:p.Asp1364=
ENST00000675595.1:c.3927_3929delinsCCT	ENSP00000502563.1:p.Asp1309=
ENST00000675843.1:c.4092_4094delinsCCT MANE Select	ENSP00000501606.1:p.Asp1364=
ENST00000278616.8:c.4092_4094delinsCCT	ENSP00000278616.4:p.Asp1364=
ENST00000452508.6:c.4092_4094delinsCCT	ENSP00000388058.2:p.Asp1364=
ENST00000524792.5:n.307_309delinsCCT
ENST00000527805.5:c.4092_4094delinsCCT	ENSP00000435747.1:p.Asp1364=
ENST00000531525.2:c.99_101delinsCCT	ENSP00000434327.2:p.Asp33=
ENST00000533733.5:n.521_523delinsCCT
NM_000051.3:c.4092_4094delinsCCT , LRG_135t1:c.4092_4094delinsCCT	NP_000042.3:p.Asp1364=
XM_005271561.3:c.4092_4094delinsCCT	XP_005271618.2:p.Asp1364=
XM_005271562.3:c.4092_4094delinsCCT	XP_005271619.2:p.Asp1364=
XM_006718843.2:c.4092_4094delinsCCT	XP_006718906.1:p.Asp1364=
XM_006718845.1:c.48_50delinsCCT	XP_006718908.1:p.Asp16=
XM_011542840.1:c.4092_4094delinsCCT	XP_011541142.1:p.Asp1364=
XM_011542841.1:c.4092_4094delinsCCT	XP_011541143.1:p.Asp1364=
XM_011542842.1:c.3927_3929delinsCCT	XP_011541144.1:p.Asp1309=
XM_011542843.1:c.4092_4094delinsCCT	XP_011541145.1:p.Asp1364=
XM_011542844.1:c.3048_3050delinsCCT	XP_011541146.1:p.Asp1016=
XM_011542845.1:c.2784_2786delinsCCT	XP_011541147.1:p.Asp928=
XM_011542846.1:c.4092_4094delinsCCT	XP_011541148.1:p.Asp1364=
NM_001351834.1:c.4092_4094delinsCCT	NP_001338763.1:p.Asp1364=
XM_005271562.5:c.4092_4094delinsCCT	XP_005271619.2:p.Asp1364=
XM_006718843.4:c.4092_4094delinsCCT	XP_006718906.1:p.Asp1364=
XM_006718845.2:c.48_50delinsCCT	XP_006718908.1:p.Asp16=
XM_011542840.3:c.4092_4094delinsCCT	XP_011541142.1:p.Asp1364=
XM_011542842.3:c.3927_3929delinsCCT	XP_011541144.1:p.Asp1309=
XM_011542843.2:c.4092_4094delinsCCT	XP_011541145.1:p.Asp1364=
XM_011542844.3:c.3048_3050delinsCCT	XP_011541146.1:p.Asp1016=
XM_011542845.2:c.2784_2786delinsCCT	XP_011541147.1:p.Asp928=
XM_017017789.2:c.4092_4094delinsCCT	XP_016873278.1:p.Asp1364=
XM_017017790.2:c.4092_4094delinsCCT	XP_016873279.1:p.Asp1364=
XM_017017791.1:c.4092_4094delinsCCT	XP_016873280.1:p.Asp1364=
XM_017017792.2:c.4092_4094delinsCCT	XP_016873281.1:p.Asp1364=
XR_002957150.1:n.4825_4827delinsCCT
NM_001351834.2:c.4092_4094delinsCCT	NP_001338763.1:p.Asp1364=
NM_000051.4:c.4092_4094delinsCCT MANE Select	NP_000042.3:p.Asp1364=