Canonical Allele Identifier: CA2573146693

Gene: ATM

Linked Data

• ClinVar Variation Id: 1429081
• ClinVar RCV Id: RCV001950007
• dbSNP Id: rs2135977494

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307958dup , CM000673.2:g.108307958dup	GRCh38
NC_000011.9:g.108178685dup , CM000673.1:g.108178685dup	GRCh37
NC_000011.8:g.107683895dup	NCBI36
NG_009830.1:g.90127dup , LRG_135:g.90127dup
NG_054724.1:g.166876dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5736dup	ENSP00000388058.2:p.Val1913CysfsTer17
ENST00000713593.1:c.*5207dup	ENSP00000518889.1:n.*5207dup
ENST00000278616.9:c.5736dup	ENSP00000278616.4:p.Val1913CysfsTer17
ENST00000525056.2:n.155dup
ENST00000682286.1:n.493dup
ENST00000682302.1:n.154dup
ENST00000683174.1:n.7220dup
ENST00000683524.1:n.960dup
ENST00000684152.1:n.1450dup
ENST00000527805.6:c.*800dup	ENSP00000435747.2:n.*800dup
ENST00000675595.1:c.*800dup	ENSP00000502563.1:n.*800dup
ENST00000675843.1:c.5736dup MANE Select	ENSP00000501606.1:p.Val1913CysfsTer17
ENST00000278616.8:c.5736dup	ENSP00000278616.4:p.Val1913CysfsTer17
ENST00000452508.6:c.5736dup	ENSP00000388058.2:p.Val1913CysfsTer17
ENST00000524792.5:n.1951dup
ENST00000529588.5:c.187-2202dup
ENST00000533690.5:n.1140dup
NM_000051.3:c.5736dup , LRG_135t1:c.5736dup	NP_000042.3:p.Val1913CysfsTer17
XM_005271561.3:c.5736dup	XP_005271618.2:p.Val1913CysfsTer17
XM_005271562.3:c.5736dup	XP_005271619.2:p.Val1913CysfsTer17
XM_006718843.2:c.5736dup	XP_006718906.1:p.Val1913CysfsTer17
XM_006718845.1:c.1692dup	XP_006718908.1:p.Val565CysfsTer17
XM_011542840.1:c.5736dup	XP_011541142.1:p.Val1913CysfsTer17
XM_011542841.1:c.5736dup	XP_011541143.1:p.Val1913CysfsTer17
XM_011542842.1:c.5571dup	XP_011541144.1:p.Val1858CysfsTer17
XM_011542843.1:c.5736dup	XP_011541145.1:p.Val1913CysfsTer17
XM_011542844.1:c.4692dup	XP_011541146.1:p.Val1565CysfsTer17
XM_011542845.1:c.4428dup	XP_011541147.1:p.Val1477CysfsTer17
XM_011542847.1:c.807dup	XP_011541149.1:p.Val270CysfsTer17
NM_001351834.1:c.5736dup	NP_001338763.1:p.Val1913CysfsTer17
XM_005271562.5:c.5736dup	XP_005271619.2:p.Val1913CysfsTer17
XM_006718843.4:c.5736dup	XP_006718906.1:p.Val1913CysfsTer17
XM_006718845.2:c.1692dup	XP_006718908.1:p.Val565CysfsTer17
XM_011542840.3:c.5736dup	XP_011541142.1:p.Val1913CysfsTer17
XM_011542842.3:c.5571dup	XP_011541144.1:p.Val1858CysfsTer17
XM_011542843.2:c.5736dup	XP_011541145.1:p.Val1913CysfsTer17
XM_011542844.3:c.4692dup	XP_011541146.1:p.Val1565CysfsTer17
XM_011542845.2:c.4428dup	XP_011541147.1:p.Val1477CysfsTer17
XM_017017789.2:c.5736dup	XP_016873278.1:p.Val1913CysfsTer17
XM_017017790.2:c.5736dup	XP_016873279.1:p.Val1913CysfsTer17
XM_017017791.1:c.5736dup	XP_016873280.1:p.Val1913CysfsTer17
XR_002957150.1:n.6336dup
NM_001351834.2:c.5736dup	NP_001338763.1:p.Val1913CysfsTer17
NM_000051.4:c.5736dup MANE Select	NP_000042.3:p.Val1913CysfsTer17