Canonical Allele Identifier: CA2580083140

Gene: ATM

Linked Data

• ClinVar Variation Id: 1747612
• ClinVar RCV Id: RCV002349664

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302983dup , CM000673.2:g.108302983dup	GRCh38
NC_000011.9:g.108173710dup , CM000673.1:g.108173710dup	GRCh37
NC_000011.8:g.107678920dup	NCBI36
NG_009830.1:g.85152dup , LRG_135:g.85152dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5450dup	ENSP00000388058.2:p.Gly1818ArgfsTer5
ENST00000713593.1:c.*4921dup	ENSP00000518889.1:n.*4921dup
ENST00000278616.9:c.5450dup	ENSP00000278616.4:p.Gly1818ArgfsTer5
ENST00000683174.1:n.6934dup
ENST00000683524.1:n.674dup
ENST00000684152.1:n.1164dup
ENST00000527805.6:c.*514dup	ENSP00000435747.2:n.*514dup
ENST00000675595.1:c.*514dup	ENSP00000502563.1:n.*514dup
ENST00000675843.1:c.5450dup MANE Select	ENSP00000501606.1:p.Gly1818ArgfsTer5
ENST00000278616.8:c.5450dup	ENSP00000278616.4:p.Gly1818ArgfsTer5
ENST00000452508.6:c.5450dup	ENSP00000388058.2:p.Gly1818ArgfsTer5
ENST00000524792.5:n.1665dup
ENST00000533690.5:n.854dup
ENST00000534625.1:n.679dup
NM_000051.3:c.5450dup , LRG_135t1:c.5450dup	NP_000042.3:p.Gly1818ArgfsTer5
XM_005271561.3:c.5450dup	XP_005271618.2:p.Gly1818ArgfsTer5
XM_005271562.3:c.5450dup	XP_005271619.2:p.Gly1818ArgfsTer5
XM_006718843.2:c.5450dup	XP_006718906.1:p.Gly1818ArgfsTer5
XM_006718845.1:c.1406dup	XP_006718908.1:p.Gly470ArgfsTer5
XM_011542840.1:c.5450dup	XP_011541142.1:p.Gly1818ArgfsTer5
XM_011542841.1:c.5450dup	XP_011541143.1:p.Gly1818ArgfsTer5
XM_011542842.1:c.5285dup	XP_011541144.1:p.Gly1763ArgfsTer5
XM_011542843.1:c.5450dup	XP_011541145.1:p.Gly1818ArgfsTer5
XM_011542844.1:c.4406dup	XP_011541146.1:p.Gly1470ArgfsTer5
XM_011542845.1:c.4142dup	XP_011541147.1:p.Gly1382ArgfsTer5
XM_011542847.1:c.521dup	XP_011541149.1:p.Gly175ArgfsTer5
NM_001351834.1:c.5450dup	NP_001338763.1:p.Gly1818ArgfsTer5
XM_005271562.5:c.5450dup	XP_005271619.2:p.Gly1818ArgfsTer5
XM_006718843.4:c.5450dup	XP_006718906.1:p.Gly1818ArgfsTer5
XM_006718845.2:c.1406dup	XP_006718908.1:p.Gly470ArgfsTer5
XM_011542840.3:c.5450dup	XP_011541142.1:p.Gly1818ArgfsTer5
XM_011542842.3:c.5285dup	XP_011541144.1:p.Gly1763ArgfsTer5
XM_011542843.2:c.5450dup	XP_011541145.1:p.Gly1818ArgfsTer5
XM_011542844.3:c.4406dup	XP_011541146.1:p.Gly1470ArgfsTer5
XM_011542845.2:c.4142dup	XP_011541147.1:p.Gly1382ArgfsTer5
XM_017017789.2:c.5450dup	XP_016873278.1:p.Gly1818ArgfsTer5
XM_017017790.2:c.5450dup	XP_016873279.1:p.Gly1818ArgfsTer5
XM_017017791.1:c.5450dup	XP_016873280.1:p.Gly1818ArgfsTer5
XR_002957150.1:n.6050dup
NM_001351834.2:c.5450dup	NP_001338763.1:p.Gly1818ArgfsTer5
NM_000051.4:c.5450dup MANE Select	NP_000042.3:p.Gly1818ArgfsTer5