Canonical Allele Identifier: CA1998767237

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247035_108247037delinsCAT , CM000673.2:g.108247035_108247037delinsCAT	GRCh38
NC_000011.9:g.108117762_108117764delinsCAT , CM000673.1:g.108117762_108117764delinsCAT	GRCh37
NC_000011.8:g.107622972_107622974delinsCAT	NCBI36
NG_009830.1:g.29204_29206delinsCAT , LRG_135:g.29204_29206delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.973_975delinsCAT	ENSP00000388058.2:p.His325=
ENST00000713593.1:c.*444_*446delinsCAT	ENSP00000518889.1:n.*444_*446delinsCAT
ENST00000278616.9:c.973_975delinsCAT	ENSP00000278616.4:p.His325=
ENST00000682516.1:n.1107_1109delinsCAT
ENST00000682956.1:n.1107_1109delinsCAT
ENST00000683100.1:n.3320_3322delinsCAT
ENST00000683174.1:n.1123_1125delinsCAT
ENST00000683605.1:n.468_470delinsCAT
ENST00000684037.1:c.973_975delinsCAT	ENSP00000508245.1:p.His325=
ENST00000684061.1:n.1107_1109delinsCAT
ENST00000684179.1:n.942_944delinsCAT
ENST00000527805.6:c.973_975delinsCAT	ENSP00000435747.2:p.His325=
ENST00000675595.1:c.808_810delinsCAT	ENSP00000502563.1:p.His270=
ENST00000675843.1:c.973_975delinsCAT MANE Select	ENSP00000501606.1:p.His325=
ENST00000278616.8:c.973_975delinsCAT	ENSP00000278616.4:p.His325=
ENST00000452508.6:c.973_975delinsCAT	ENSP00000388058.2:p.His325=
ENST00000527805.5:c.973_975delinsCAT	ENSP00000435747.1:p.His325=
NM_000051.3:c.973_975delinsCAT , LRG_135t1:c.973_975delinsCAT	NP_000042.3:p.His325=
XM_005271561.3:c.973_975delinsCAT	XP_005271618.2:p.His325=
XM_005271562.3:c.973_975delinsCAT	XP_005271619.2:p.His325=
XM_006718843.2:c.973_975delinsCAT	XP_006718906.1:p.His325=
XM_011542840.1:c.973_975delinsCAT	XP_011541142.1:p.His325=
XM_011542841.1:c.973_975delinsCAT	XP_011541143.1:p.His325=
XM_011542842.1:c.808_810delinsCAT	XP_011541144.1:p.His270=
XM_011542843.1:c.973_975delinsCAT	XP_011541145.1:p.His325=
XM_011542844.1:c.-72_-70delinsCAT	XP_011541146.1:n.-72_-70delinsCAT
XM_011542846.1:c.973_975delinsCAT	XP_011541148.1:p.His325=
NM_001351834.1:c.973_975delinsCAT	NP_001338763.1:p.His325=
XM_005271562.5:c.973_975delinsCAT	XP_005271619.2:p.His325=
XM_006718843.4:c.973_975delinsCAT	XP_006718906.1:p.His325=
XM_011542840.3:c.973_975delinsCAT	XP_011541142.1:p.His325=
XM_011542842.3:c.808_810delinsCAT	XP_011541144.1:p.His270=
XM_011542843.2:c.973_975delinsCAT	XP_011541145.1:p.His325=
XM_011542844.3:c.-72_-70delinsCAT	XP_011541146.1:n.-72_-70delinsCAT
XM_017017789.2:c.973_975delinsCAT	XP_016873278.1:p.His325=
XM_017017790.2:c.973_975delinsCAT	XP_016873279.1:p.His325=
XM_017017791.1:c.973_975delinsCAT	XP_016873280.1:p.His325=
XM_017017792.2:c.973_975delinsCAT	XP_016873281.1:p.His325=
XR_002957150.1:n.1706_1708delinsCAT
NM_001351834.2:c.973_975delinsCAT	NP_001338763.1:p.His325=
NM_000051.4:c.973_975delinsCAT MANE Select	NP_000042.3:p.His325=