Canonical Allele Identifier: CA1998785685

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289766_108289768delinsCGT , CM000673.2:g.108289766_108289768delinsCGT	GRCh38
NC_000011.9:g.108160493_108160495delinsCGT , CM000673.1:g.108160493_108160495delinsCGT	GRCh37
NC_000011.8:g.107665703_107665705delinsCGT	NCBI36
NG_009830.1:g.71935_71937delinsCGT , LRG_135:g.71935_71937delinsCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4401_4403delinsCGT	ENSP00000388058.2:p.Asp1467=
ENST00000713593.1:c.*3872_*3874delinsCGT	ENSP00000518889.1:n.*3872_*3874delinsCGT
ENST00000278616.9:c.4401_4403delinsCGT	ENSP00000278616.4:p.Asp1467=
ENST00000533733.6:n.1664_1666delinsCGT
ENST00000683174.1:n.4551_4553delinsCGT
ENST00000527805.6:c.4401_4403delinsCGT	ENSP00000435747.2:p.Asp1467=
ENST00000675595.1:c.4236_4238delinsCGT	ENSP00000502563.1:p.Asp1412=
ENST00000675843.1:c.4401_4403delinsCGT MANE Select	ENSP00000501606.1:p.Asp1467=
ENST00000278616.8:c.4401_4403delinsCGT	ENSP00000278616.4:p.Asp1467=
ENST00000452508.6:c.4401_4403delinsCGT	ENSP00000388058.2:p.Asp1467=
ENST00000524792.5:n.616_618delinsCGT
ENST00000531525.2:c.408_410delinsCGT	ENSP00000434327.2:p.Asp136=
ENST00000533733.5:n.830_832delinsCGT
NM_000051.3:c.4401_4403delinsCGT , LRG_135t1:c.4401_4403delinsCGT	NP_000042.3:p.Asp1467=
XM_005271561.3:c.4401_4403delinsCGT	XP_005271618.2:p.Asp1467=
XM_005271562.3:c.4401_4403delinsCGT	XP_005271619.2:p.Asp1467=
XM_006718843.2:c.4401_4403delinsCGT	XP_006718906.1:p.Asp1467=
XM_006718845.1:c.357_359delinsCGT	XP_006718908.1:p.Asp119=
XM_011542840.1:c.4401_4403delinsCGT	XP_011541142.1:p.Asp1467=
XM_011542841.1:c.4401_4403delinsCGT	XP_011541143.1:p.Asp1467=
XM_011542842.1:c.4236_4238delinsCGT	XP_011541144.1:p.Asp1412=
XM_011542843.1:c.4401_4403delinsCGT	XP_011541145.1:p.Asp1467=
XM_011542844.1:c.3357_3359delinsCGT	XP_011541146.1:p.Asp1119=
XM_011542845.1:c.3093_3095delinsCGT	XP_011541147.1:p.Asp1031=
XM_011542846.1:c.4401_4403delinsCGT	XP_011541148.1:p.Asp1467=
NM_001351834.1:c.4401_4403delinsCGT	NP_001338763.1:p.Asp1467=
XM_005271562.5:c.4401_4403delinsCGT	XP_005271619.2:p.Asp1467=
XM_006718843.4:c.4401_4403delinsCGT	XP_006718906.1:p.Asp1467=
XM_006718845.2:c.357_359delinsCGT	XP_006718908.1:p.Asp119=
XM_011542840.3:c.4401_4403delinsCGT	XP_011541142.1:p.Asp1467=
XM_011542842.3:c.4236_4238delinsCGT	XP_011541144.1:p.Asp1412=
XM_011542843.2:c.4401_4403delinsCGT	XP_011541145.1:p.Asp1467=
XM_011542844.3:c.3357_3359delinsCGT	XP_011541146.1:p.Asp1119=
XM_011542845.2:c.3093_3095delinsCGT	XP_011541147.1:p.Asp1031=
XM_017017789.2:c.4401_4403delinsCGT	XP_016873278.1:p.Asp1467=
XM_017017790.2:c.4401_4403delinsCGT	XP_016873279.1:p.Asp1467=
XM_017017791.1:c.4401_4403delinsCGT	XP_016873280.1:p.Asp1467=
XM_017017792.2:c.4401_4403delinsCGT	XP_016873281.1:p.Asp1467=
XR_002957150.1:n.5134_5136delinsCGT
NM_001351834.2:c.4401_4403delinsCGT	NP_001338763.1:p.Asp1467=
NM_000051.4:c.4401_4403delinsCGT MANE Select	NP_000042.3:p.Asp1467=