Canonical Allele Identifier: CA2825001899

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148835
• ClinVar RCV Id: RCV004442734

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302914del , CM000673.2:g.108302914del	GRCh38
NC_000011.9:g.108173641del , CM000673.1:g.108173641del	GRCh37
NC_000011.8:g.107678851del	NCBI36
NG_009830.1:g.85083del , LRG_135:g.85083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5381del	ENSP00000388058.2:p.Leu1794ArgfsTer5
ENST00000713593.1:c.*4852del	ENSP00000518889.1:n.*4852del
ENST00000278616.9:c.5381del	ENSP00000278616.4:p.Leu1794ArgfsTer5
ENST00000683174.1:n.6865del
ENST00000683524.1:n.605del
ENST00000684152.1:n.1095del
ENST00000527805.6:c.*445del	ENSP00000435747.2:n.*445del
ENST00000675595.1:c.*445del	ENSP00000502563.1:n.*445del
ENST00000675843.1:c.5381del MANE Select	ENSP00000501606.1:p.Leu1794ArgfsTer5
ENST00000278616.8:c.5381del	ENSP00000278616.4:p.Leu1794ArgfsTer5
ENST00000452508.6:c.5381del	ENSP00000388058.2:p.Leu1794ArgfsTer5
ENST00000524792.5:n.1596del
ENST00000533690.5:n.785del
ENST00000534625.1:n.610del
NM_000051.3:c.5381del , LRG_135t1:c.5381del	NP_000042.3:p.Leu1794ArgfsTer5
XM_005271561.3:c.5381del	XP_005271618.2:p.Leu1794ArgfsTer5
XM_005271562.3:c.5381del	XP_005271619.2:p.Leu1794ArgfsTer5
XM_006718843.2:c.5381del	XP_006718906.1:p.Leu1794ArgfsTer5
XM_006718845.1:c.1337del	XP_006718908.1:p.Leu446ArgfsTer5
XM_011542840.1:c.5381del	XP_011541142.1:p.Leu1794ArgfsTer5
XM_011542841.1:c.5381del	XP_011541143.1:p.Leu1794ArgfsTer5
XM_011542842.1:c.5216del	XP_011541144.1:p.Leu1739ArgfsTer5
XM_011542843.1:c.5381del	XP_011541145.1:p.Leu1794ArgfsTer5
XM_011542844.1:c.4337del	XP_011541146.1:p.Leu1446ArgfsTer5
XM_011542845.1:c.4073del	XP_011541147.1:p.Leu1358ArgfsTer5
XM_011542846.1:c.*39del	XP_011541148.1:n.*39del
XM_011542847.1:c.452del	XP_011541149.1:p.Leu151ArgfsTer5
NM_001351834.1:c.5381del	NP_001338763.1:p.Leu1794ArgfsTer5
XM_005271562.5:c.5381del	XP_005271619.2:p.Leu1794ArgfsTer5
XM_006718843.4:c.5381del	XP_006718906.1:p.Leu1794ArgfsTer5
XM_006718845.2:c.1337del	XP_006718908.1:p.Leu446ArgfsTer5
XM_011542840.3:c.5381del	XP_011541142.1:p.Leu1794ArgfsTer5
XM_011542842.3:c.5216del	XP_011541144.1:p.Leu1739ArgfsTer5
XM_011542843.2:c.5381del	XP_011541145.1:p.Leu1794ArgfsTer5
XM_011542844.3:c.4337del	XP_011541146.1:p.Leu1446ArgfsTer5
XM_011542845.2:c.4073del	XP_011541147.1:p.Leu1358ArgfsTer5
XM_017017789.2:c.5381del	XP_016873278.1:p.Leu1794ArgfsTer5
XM_017017790.2:c.5381del	XP_016873279.1:p.Leu1794ArgfsTer5
XM_017017791.1:c.5381del	XP_016873280.1:p.Leu1794ArgfsTer5
XM_017017792.2:c.*62del	XP_016873281.1:n.*62del
XR_002957150.1:n.5981del
NM_001351834.2:c.5381del	NP_001338763.1:p.Leu1794ArgfsTer5
NM_000051.4:c.5381del MANE Select	NP_000042.3:p.Leu1794ArgfsTer5