Canonical Allele Identifier: CA1998801183

Gene: ATM

Linked Data

• ClinVar Variation Id: 1025705
• ClinVar RCV Id: RCV001326050
• dbSNP Id: rs2083589744

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304671dup , CM000673.2:g.108304671dup	GRCh38
NC_000011.9:g.108175398dup , CM000673.1:g.108175398dup	GRCh37
NC_000011.8:g.107680608dup	NCBI36
NG_009830.1:g.86840dup , LRG_135:g.86840dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5497-4dup	ENSP00000388058.2:n.5497-4dup
ENST00000713593.1:c.*4968-4dup	ENSP00000518889.1:n.*4968-4dup
ENST00000278616.9:c.5497-4dup	ENSP00000278616.4:n.5497-4dup
ENST00000683174.1:n.6981-4dup
ENST00000683524.1:n.721-4dup
ENST00000684152.1:n.1211-4dup
ENST00000527805.6:c.*561-4dup	ENSP00000435747.2:n.*561-4dup
ENST00000675595.1:c.*561-4dup	ENSP00000502563.1:n.*561-4dup
ENST00000675843.1:c.5497-4dup MANE Select	ENSP00000501606.1:n.5497-4dup
ENST00000278616.8:c.5497-4dup	ENSP00000278616.4:n.5497-4dup
ENST00000452508.6:c.5497-4dup	ENSP00000388058.2:n.5497-4dup
ENST00000524792.5:n.1712-4dup
ENST00000529588.5:c.9-4dup
ENST00000533690.5:n.901-4dup
NM_000051.3:c.5497-4dup , LRG_135t1:c.5497-4dup	NP_000042.3:n.5497-4dup
XM_005271561.3:c.5497-4dup	XP_005271618.2:n.5497-4dup
XM_005271562.3:c.5497-4dup	XP_005271619.2:n.5497-4dup
XM_006718843.2:c.5497-4dup	XP_006718906.1:n.5497-4dup
XM_006718845.1:c.1453-4dup	XP_006718908.1:n.1453-4dup
XM_011542840.1:c.5497-4dup	XP_011541142.1:n.5497-4dup
XM_011542841.1:c.5497-4dup	XP_011541143.1:n.5497-4dup
XM_011542842.1:c.5332-4dup	XP_011541144.1:n.5332-4dup
XM_011542843.1:c.5497-4dup	XP_011541145.1:n.5497-4dup
XM_011542844.1:c.4453-4dup	XP_011541146.1:n.4453-4dup
XM_011542845.1:c.4189-4dup	XP_011541147.1:n.4189-4dup
XM_011542847.1:c.568-4dup	XP_011541149.1:n.568-4dup
NM_001351834.1:c.5497-4dup	NP_001338763.1:n.5497-4dup
XM_005271562.5:c.5497-4dup	XP_005271619.2:n.5497-4dup
XM_006718843.4:c.5497-4dup	XP_006718906.1:n.5497-4dup
XM_006718845.2:c.1453-4dup	XP_006718908.1:n.1453-4dup
XM_011542840.3:c.5497-4dup	XP_011541142.1:n.5497-4dup
XM_011542842.3:c.5332-4dup	XP_011541144.1:n.5332-4dup
XM_011542843.2:c.5497-4dup	XP_011541145.1:n.5497-4dup
XM_011542844.3:c.4453-4dup	XP_011541146.1:n.4453-4dup
XM_011542845.2:c.4189-4dup	XP_011541147.1:n.4189-4dup
XM_017017789.2:c.5497-4dup	XP_016873278.1:n.5497-4dup
XM_017017790.2:c.5497-4dup	XP_016873279.1:n.5497-4dup
XM_017017791.1:c.5497-4dup	XP_016873280.1:n.5497-4dup
XR_002957150.1:n.6097-4dup
NM_001351834.2:c.5497-4dup	NP_001338763.1:n.5497-4dup
NM_000051.4:c.5497-4dup MANE Select	NP_000042.3:n.5497-4dup