Canonical Allele Identifier: CA382546055

Gene: ATM

Linked Data

• ClinVar Variation Id: 479027
• ClinVar RCV Id: RCV000561240 ; RCV001370825
• dbSNP Id: rs1465041573
• gnomAD v2: 11-108175471-G-A
• MyVariant Identifiers: chr11:g.108175471G>A (hg19) ; chr11:g.108304744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304744G>A , CM000673.2:g.108304744G>A	GRCh38
NC_000011.9:g.108175471G>A , CM000673.1:g.108175471G>A	GRCh37
NC_000011.8:g.107680681G>A	NCBI36
NG_009830.1:g.86913G>A , LRG_135:g.86913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5566G>A	ENSP00000388058.2:p.Glu1856Lys
ENST00000713593.1:c.*5037G>A	ENSP00000518889.1:n.*5037G>A
ENST00000278616.9:c.5566G>A	ENSP00000278616.4:p.Glu1856Lys
ENST00000683174.1:n.7050G>A
ENST00000683524.1:n.790G>A
ENST00000684152.1:n.1280G>A
ENST00000527805.6:c.*630G>A	ENSP00000435747.2:n.*630G>A
ENST00000675595.1:c.*630G>A	ENSP00000502563.1:n.*630G>A
ENST00000675843.1:c.5566G>A MANE Select	ENSP00000501606.1:p.Glu1856Lys
ENST00000278616.8:c.5566G>A	ENSP00000278616.4:p.Glu1856Lys
ENST00000452508.6:c.5566G>A	ENSP00000388058.2:p.Glu1856Lys
ENST00000524792.5:n.1781G>A
ENST00000529588.5:c.78G>A
ENST00000533690.5:n.970G>A
NM_000051.3:c.5566G>A , LRG_135t1:c.5566G>A	NP_000042.3:p.Glu1856Lys
XM_005271561.3:c.5566G>A	XP_005271618.2:p.Glu1856Lys
XM_005271562.3:c.5566G>A	XP_005271619.2:p.Glu1856Lys
XM_006718843.2:c.5566G>A	XP_006718906.1:p.Glu1856Lys
XM_006718845.1:c.1522G>A	XP_006718908.1:p.Glu508Lys
XM_011542840.1:c.5566G>A	XP_011541142.1:p.Glu1856Lys
XM_011542841.1:c.5566G>A	XP_011541143.1:p.Glu1856Lys
XM_011542842.1:c.5401G>A	XP_011541144.1:p.Glu1801Lys
XM_011542843.1:c.5566G>A	XP_011541145.1:p.Glu1856Lys
XM_011542844.1:c.4522G>A	XP_011541146.1:p.Glu1508Lys
XM_011542845.1:c.4258G>A	XP_011541147.1:p.Glu1420Lys
XM_011542847.1:c.637G>A	XP_011541149.1:p.Glu213Lys
NM_001351834.1:c.5566G>A	NP_001338763.1:p.Glu1856Lys
XM_005271562.5:c.5566G>A	XP_005271619.2:p.Glu1856Lys
XM_006718843.4:c.5566G>A	XP_006718906.1:p.Glu1856Lys
XM_006718845.2:c.1522G>A	XP_006718908.1:p.Glu508Lys
XM_011542840.3:c.5566G>A	XP_011541142.1:p.Glu1856Lys
XM_011542842.3:c.5401G>A	XP_011541144.1:p.Glu1801Lys
XM_011542843.2:c.5566G>A	XP_011541145.1:p.Glu1856Lys
XM_011542844.3:c.4522G>A	XP_011541146.1:p.Glu1508Lys
XM_011542845.2:c.4258G>A	XP_011541147.1:p.Glu1420Lys
XM_017017789.2:c.5566G>A	XP_016873278.1:p.Glu1856Lys
XM_017017790.2:c.5566G>A	XP_016873279.1:p.Glu1856Lys
XM_017017791.1:c.5566G>A	XP_016873280.1:p.Glu1856Lys
XR_002957150.1:n.6166G>A
NM_001351834.2:c.5566G>A	NP_001338763.1:p.Glu1856Lys
NM_000051.4:c.5566G>A MANE Select	NP_000042.3:p.Glu1856Lys