Canonical Allele Identifier: CA1998783226

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267206_108267207delinsAG , CM000673.2:g.108267206_108267207delinsAG	GRCh38
NC_000011.9:g.108137933_108137934delinsAG , CM000673.1:g.108137933_108137934delinsAG	GRCh37
NC_000011.8:g.107643143_107643144delinsAG	NCBI36
NG_009830.1:g.49375_49376delinsAG , LRG_135:g.49375_49376delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2502_2503delinsAG	ENSP00000388058.2:p.Glu834=
ENST00000713593.1:c.*1973_*1974delinsAG	ENSP00000518889.1:n.*1973_*1974delinsAG
ENST00000278616.9:c.2502_2503delinsAG	ENSP00000278616.4:p.Glu834=
ENST00000682516.1:n.2636_2637delinsAG
ENST00000683174.1:n.2652_2653delinsAG
ENST00000683605.1:n.1997_1998delinsAG
ENST00000684037.1:c.*1437_*1438delinsAG	ENSP00000508245.1:n.*1437_*1438delinsAG
ENST00000527805.6:c.2502_2503delinsAG	ENSP00000435747.2:p.Glu834=
ENST00000675595.1:c.2337_2338delinsAG	ENSP00000502563.1:p.Glu779=
ENST00000675843.1:c.2502_2503delinsAG MANE Select	ENSP00000501606.1:p.Glu834=
ENST00000278616.8:c.2502_2503delinsAG	ENSP00000278616.4:p.Glu834=
ENST00000452508.6:c.2502_2503delinsAG	ENSP00000388058.2:p.Glu834=
ENST00000527805.5:c.2502_2503delinsAG	ENSP00000435747.1:p.Glu834=
NM_000051.3:c.2502_2503delinsAG , LRG_135t1:c.2502_2503delinsAG	NP_000042.3:p.Glu834=
XM_005271561.3:c.2502_2503delinsAG	XP_005271618.2:p.Glu834=
XM_005271562.3:c.2502_2503delinsAG	XP_005271619.2:p.Glu834=
XM_006718843.2:c.2502_2503delinsAG	XP_006718906.1:p.Glu834=
XM_011542840.1:c.2502_2503delinsAG	XP_011541142.1:p.Glu834=
XM_011542841.1:c.2502_2503delinsAG	XP_011541143.1:p.Glu834=
XM_011542842.1:c.2337_2338delinsAG	XP_011541144.1:p.Glu779=
XM_011542843.1:c.2502_2503delinsAG	XP_011541145.1:p.Glu834=
XM_011542844.1:c.1458_1459delinsAG	XP_011541146.1:p.Glu486=
XM_011542845.1:c.1194_1195delinsAG	XP_011541147.1:p.Glu398=
XM_011542846.1:c.2502_2503delinsAG	XP_011541148.1:p.Glu834=
NM_001351834.1:c.2502_2503delinsAG	NP_001338763.1:p.Glu834=
XM_005271562.5:c.2502_2503delinsAG	XP_005271619.2:p.Glu834=
XM_006718843.4:c.2502_2503delinsAG	XP_006718906.1:p.Glu834=
XM_011542840.3:c.2502_2503delinsAG	XP_011541142.1:p.Glu834=
XM_011542842.3:c.2337_2338delinsAG	XP_011541144.1:p.Glu779=
XM_011542843.2:c.2502_2503delinsAG	XP_011541145.1:p.Glu834=
XM_011542844.3:c.1458_1459delinsAG	XP_011541146.1:p.Glu486=
XM_011542845.2:c.1194_1195delinsAG	XP_011541147.1:p.Glu398=
XM_017017789.2:c.2502_2503delinsAG	XP_016873278.1:p.Glu834=
XM_017017790.2:c.2502_2503delinsAG	XP_016873279.1:p.Glu834=
XM_017017791.1:c.2502_2503delinsAG	XP_016873280.1:p.Glu834=
XM_017017792.2:c.2502_2503delinsAG	XP_016873281.1:p.Glu834=
XR_002957150.1:n.3235_3236delinsAG
NM_001351834.2:c.2502_2503delinsAG	NP_001338763.1:p.Glu834=
NM_000051.4:c.2502_2503delinsAG MANE Select	NP_000042.3:p.Glu834=