Canonical Allele Identifier: CA1998785350

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289707_108289709delinsTTA , CM000673.2:g.108289707_108289709delinsTTA	GRCh38
NC_000011.9:g.108160434_108160436delinsTTA , CM000673.1:g.108160434_108160436delinsTTA	GRCh37
NC_000011.8:g.107665644_107665646delinsTTA	NCBI36
NG_009830.1:g.71876_71878delinsTTA , LRG_135:g.71876_71878delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4342_4344delinsTTA	ENSP00000388058.2:p.Leu1448=
ENST00000713593.1:c.*3813_*3815delinsTTA	ENSP00000518889.1:n.*3813_*3815delinsTTA
ENST00000278616.9:c.4342_4344delinsTTA	ENSP00000278616.4:p.Leu1448=
ENST00000533733.6:n.1605_1607delinsTTA
ENST00000683174.1:n.4492_4494delinsTTA
ENST00000527805.6:c.4342_4344delinsTTA	ENSP00000435747.2:p.Leu1448=
ENST00000675595.1:c.4177_4179delinsTTA	ENSP00000502563.1:p.Leu1393=
ENST00000675843.1:c.4342_4344delinsTTA MANE Select	ENSP00000501606.1:p.Leu1448=
ENST00000278616.8:c.4342_4344delinsTTA	ENSP00000278616.4:p.Leu1448=
ENST00000452508.6:c.4342_4344delinsTTA	ENSP00000388058.2:p.Leu1448=
ENST00000524792.5:n.557_559delinsTTA
ENST00000531525.2:c.349_351delinsTTA	ENSP00000434327.2:p.Leu117=
ENST00000533733.5:n.771_773delinsTTA
NM_000051.3:c.4342_4344delinsTTA , LRG_135t1:c.4342_4344delinsTTA	NP_000042.3:p.Leu1448=
XM_005271561.3:c.4342_4344delinsTTA	XP_005271618.2:p.Leu1448=
XM_005271562.3:c.4342_4344delinsTTA	XP_005271619.2:p.Leu1448=
XM_006718843.2:c.4342_4344delinsTTA	XP_006718906.1:p.Leu1448=
XM_006718845.1:c.298_300delinsTTA	XP_006718908.1:p.Leu100=
XM_011542840.1:c.4342_4344delinsTTA	XP_011541142.1:p.Leu1448=
XM_011542841.1:c.4342_4344delinsTTA	XP_011541143.1:p.Leu1448=
XM_011542842.1:c.4177_4179delinsTTA	XP_011541144.1:p.Leu1393=
XM_011542843.1:c.4342_4344delinsTTA	XP_011541145.1:p.Leu1448=
XM_011542844.1:c.3298_3300delinsTTA	XP_011541146.1:p.Leu1100=
XM_011542845.1:c.3034_3036delinsTTA	XP_011541147.1:p.Leu1012=
XM_011542846.1:c.4342_4344delinsTTA	XP_011541148.1:p.Leu1448=
NM_001351834.1:c.4342_4344delinsTTA	NP_001338763.1:p.Leu1448=
XM_005271562.5:c.4342_4344delinsTTA	XP_005271619.2:p.Leu1448=
XM_006718843.4:c.4342_4344delinsTTA	XP_006718906.1:p.Leu1448=
XM_006718845.2:c.298_300delinsTTA	XP_006718908.1:p.Leu100=
XM_011542840.3:c.4342_4344delinsTTA	XP_011541142.1:p.Leu1448=
XM_011542842.3:c.4177_4179delinsTTA	XP_011541144.1:p.Leu1393=
XM_011542843.2:c.4342_4344delinsTTA	XP_011541145.1:p.Leu1448=
XM_011542844.3:c.3298_3300delinsTTA	XP_011541146.1:p.Leu1100=
XM_011542845.2:c.3034_3036delinsTTA	XP_011541147.1:p.Leu1012=
XM_017017789.2:c.4342_4344delinsTTA	XP_016873278.1:p.Leu1448=
XM_017017790.2:c.4342_4344delinsTTA	XP_016873279.1:p.Leu1448=
XM_017017791.1:c.4342_4344delinsTTA	XP_016873280.1:p.Leu1448=
XM_017017792.2:c.4342_4344delinsTTA	XP_016873281.1:p.Leu1448=
XR_002957150.1:n.5075_5077delinsTTA
NM_001351834.2:c.4342_4344delinsTTA	NP_001338763.1:p.Leu1448=
NM_000051.4:c.4342_4344delinsTTA MANE Select	NP_000042.3:p.Leu1448=