Canonical Allele Identifier: CA1998795440

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287659_108287669delinsACATGAGCCAG , CM000673.2:g.108287659_108287669delinsACATGAGCCAG	GRCh38
NC_000011.9:g.108158386_108158396delinsACATGAGCCAG , CM000673.1:g.108158386_108158396delinsACATGAGCCAG	GRCh37
NC_000011.8:g.107663596_107663606delinsACATGAGCCAG	NCBI36
NG_009830.1:g.69828_69838delinsACATGAGCCAG , LRG_135:g.69828_69838delinsACATGAGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4053_4063delinsACATGAGCCAG	ENSP00000388058.2:p.Leu1351=
ENST00000713593.1:c.*3524_*3534delinsACATGAGCCAG	ENSP00000518889.1:n.*3524_*3534delinsACATGAGCCAG
ENST00000278616.9:c.4053_4063delinsACATGAGCCAG	ENSP00000278616.4:p.Leu1351=
ENST00000533733.6:n.1316_1326delinsACATGAGCCAG
ENST00000683174.1:n.4203_4213delinsACATGAGCCAG
ENST00000527805.6:c.4053_4063delinsACATGAGCCAG	ENSP00000435747.2:p.Leu1351=
ENST00000675595.1:c.3888_3898delinsACATGAGCCAG	ENSP00000502563.1:p.Leu1296=
ENST00000675843.1:c.4053_4063delinsACATGAGCCAG MANE Select	ENSP00000501606.1:p.Leu1351=
ENST00000278616.8:c.4053_4063delinsACATGAGCCAG	ENSP00000278616.4:p.Leu1351=
ENST00000452508.6:c.4053_4063delinsACATGAGCCAG	ENSP00000388058.2:p.Leu1351=
ENST00000524792.5:n.268_278delinsACATGAGCCAG
ENST00000527805.5:c.4053_4063delinsACATGAGCCAG	ENSP00000435747.1:p.Leu1351=
ENST00000531525.2:c.60_70delinsACATGAGCCAG	ENSP00000434327.2:p.Leu20=
ENST00000533733.5:n.482_492delinsACATGAGCCAG
NM_000051.3:c.4053_4063delinsACATGAGCCAG , LRG_135t1:c.4053_4063delinsACATGAGCCAG	NP_000042.3:p.Leu1351=
XM_005271561.3:c.4053_4063delinsACATGAGCCAG	XP_005271618.2:p.Leu1351=
XM_005271562.3:c.4053_4063delinsACATGAGCCAG	XP_005271619.2:p.Leu1351=
XM_006718843.2:c.4053_4063delinsACATGAGCCAG	XP_006718906.1:p.Leu1351=
XM_006718845.1:c.9_19delinsACATGAGCCAG	XP_006718908.1:p.Leu3=
XM_011542840.1:c.4053_4063delinsACATGAGCCAG	XP_011541142.1:p.Leu1351=
XM_011542841.1:c.4053_4063delinsACATGAGCCAG	XP_011541143.1:p.Leu1351=
XM_011542842.1:c.3888_3898delinsACATGAGCCAG	XP_011541144.1:p.Leu1296=
XM_011542843.1:c.4053_4063delinsACATGAGCCAG	XP_011541145.1:p.Leu1351=
XM_011542844.1:c.3009_3019delinsACATGAGCCAG	XP_011541146.1:p.Leu1003=
XM_011542845.1:c.2745_2755delinsACATGAGCCAG	XP_011541147.1:p.Leu915=
XM_011542846.1:c.4053_4063delinsACATGAGCCAG	XP_011541148.1:p.Leu1351=
NM_001351834.1:c.4053_4063delinsACATGAGCCAG	NP_001338763.1:p.Leu1351=
XM_005271562.5:c.4053_4063delinsACATGAGCCAG	XP_005271619.2:p.Leu1351=
XM_006718843.4:c.4053_4063delinsACATGAGCCAG	XP_006718906.1:p.Leu1351=
XM_006718845.2:c.9_19delinsACATGAGCCAG	XP_006718908.1:p.Leu3=
XM_011542840.3:c.4053_4063delinsACATGAGCCAG	XP_011541142.1:p.Leu1351=
XM_011542842.3:c.3888_3898delinsACATGAGCCAG	XP_011541144.1:p.Leu1296=
XM_011542843.2:c.4053_4063delinsACATGAGCCAG	XP_011541145.1:p.Leu1351=
XM_011542844.3:c.3009_3019delinsACATGAGCCAG	XP_011541146.1:p.Leu1003=
XM_011542845.2:c.2745_2755delinsACATGAGCCAG	XP_011541147.1:p.Leu915=
XM_017017789.2:c.4053_4063delinsACATGAGCCAG	XP_016873278.1:p.Leu1351=
XM_017017790.2:c.4053_4063delinsACATGAGCCAG	XP_016873279.1:p.Leu1351=
XM_017017791.1:c.4053_4063delinsACATGAGCCAG	XP_016873280.1:p.Leu1351=
XM_017017792.2:c.4053_4063delinsACATGAGCCAG	XP_016873281.1:p.Leu1351=
XR_002957150.1:n.4786_4796delinsACATGAGCCAG
NM_001351834.2:c.4053_4063delinsACATGAGCCAG	NP_001338763.1:p.Leu1351=
NM_000051.4:c.4053_4063delinsACATGAGCCAG MANE Select	NP_000042.3:p.Leu1351=