Canonical Allele Identifier: CA1998767308

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247043_108247046delinsAAGT , CM000673.2:g.108247043_108247046delinsAAGT	GRCh38
NC_000011.9:g.108117770_108117773delinsAAGT , CM000673.1:g.108117770_108117773delinsAAGT	GRCh37
NC_000011.8:g.107622980_107622983delinsAAGT	NCBI36
NG_009830.1:g.29212_29215delinsAAGT , LRG_135:g.29212_29215delinsAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.981_984delinsAAGT	ENSP00000388058.2:p.Gly327=
ENST00000713593.1:c.*452_*455delinsAAGT	ENSP00000518889.1:n.*452_*455delinsAAGT
ENST00000278616.9:c.981_984delinsAAGT	ENSP00000278616.4:p.Gly327=
ENST00000682516.1:n.1115_1118delinsAAGT
ENST00000682956.1:n.1115_1118delinsAAGT
ENST00000683100.1:n.3328_3331delinsAAGT
ENST00000683174.1:n.1131_1134delinsAAGT
ENST00000683605.1:n.476_479delinsAAGT
ENST00000684037.1:c.981_984delinsAAGT	ENSP00000508245.1:p.Gly327=
ENST00000684061.1:n.1115_1118delinsAAGT
ENST00000684179.1:n.950_953delinsAAGT
ENST00000527805.6:c.981_984delinsAAGT	ENSP00000435747.2:p.Gly327=
ENST00000675595.1:c.816_819delinsAAGT	ENSP00000502563.1:p.Gly272=
ENST00000675843.1:c.981_984delinsAAGT MANE Select	ENSP00000501606.1:p.Gly327=
ENST00000278616.8:c.981_984delinsAAGT	ENSP00000278616.4:p.Gly327=
ENST00000452508.6:c.981_984delinsAAGT	ENSP00000388058.2:p.Gly327=
ENST00000527805.5:c.981_984delinsAAGT	ENSP00000435747.1:p.Gly327=
NM_000051.3:c.981_984delinsAAGT , LRG_135t1:c.981_984delinsAAGT	NP_000042.3:p.Gly327=
XM_005271561.3:c.981_984delinsAAGT	XP_005271618.2:p.Gly327=
XM_005271562.3:c.981_984delinsAAGT	XP_005271619.2:p.Gly327=
XM_006718843.2:c.981_984delinsAAGT	XP_006718906.1:p.Gly327=
XM_011542840.1:c.981_984delinsAAGT	XP_011541142.1:p.Gly327=
XM_011542841.1:c.981_984delinsAAGT	XP_011541143.1:p.Gly327=
XM_011542842.1:c.816_819delinsAAGT	XP_011541144.1:p.Gly272=
XM_011542843.1:c.981_984delinsAAGT	XP_011541145.1:p.Gly327=
XM_011542844.1:c.-64_-61delinsAAGT	XP_011541146.1:n.-64_-61delinsAAGT
XM_011542846.1:c.981_984delinsAAGT	XP_011541148.1:p.Gly327=
NM_001351834.1:c.981_984delinsAAGT	NP_001338763.1:p.Gly327=
XM_005271562.5:c.981_984delinsAAGT	XP_005271619.2:p.Gly327=
XM_006718843.4:c.981_984delinsAAGT	XP_006718906.1:p.Gly327=
XM_011542840.3:c.981_984delinsAAGT	XP_011541142.1:p.Gly327=
XM_011542842.3:c.816_819delinsAAGT	XP_011541144.1:p.Gly272=
XM_011542843.2:c.981_984delinsAAGT	XP_011541145.1:p.Gly327=
XM_011542844.3:c.-64_-61delinsAAGT	XP_011541146.1:n.-64_-61delinsAAGT
XM_017017789.2:c.981_984delinsAAGT	XP_016873278.1:p.Gly327=
XM_017017790.2:c.981_984delinsAAGT	XP_016873279.1:p.Gly327=
XM_017017791.1:c.981_984delinsAAGT	XP_016873280.1:p.Gly327=
XM_017017792.2:c.981_984delinsAAGT	XP_016873281.1:p.Gly327=
XR_002957150.1:n.1714_1717delinsAAGT
NM_001351834.2:c.981_984delinsAAGT	NP_001338763.1:p.Gly327=
NM_000051.4:c.981_984delinsAAGT MANE Select	NP_000042.3:p.Gly327=