Canonical Allele Identifier: CA2499220629

Gene: ATM

Linked Data

• ClinVar Variation Id: 1072739
• ClinVar RCV Id: RCV001385544 ; RCV002322364 ; RCV004037673
• dbSNP Id: rs2135737651

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287699del , CM000673.2:g.108287699del	GRCh38
NC_000011.9:g.108158426del , CM000673.1:g.108158426del	GRCh37
NC_000011.8:g.107663636del	NCBI36
NG_009830.1:g.69868del , LRG_135:g.69868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4093del	ENSP00000388058.2:p.Leu1365SerfsTer21
ENST00000713593.1:c.*3564del	ENSP00000518889.1:n.*3564del
ENST00000278616.9:c.4093del	ENSP00000278616.4:p.Leu1365SerfsTer21
ENST00000533733.6:n.1356del
ENST00000683174.1:n.4243del
ENST00000527805.6:c.4093del	ENSP00000435747.2:p.Leu1365SerfsTer21
ENST00000675595.1:c.3928del	ENSP00000502563.1:p.Leu1310SerfsTer21
ENST00000675843.1:c.4093del MANE Select	ENSP00000501606.1:p.Leu1365SerfsTer21
ENST00000278616.8:c.4093del	ENSP00000278616.4:p.Leu1365SerfsTer21
ENST00000452508.6:c.4093del	ENSP00000388058.2:p.Leu1365SerfsTer21
ENST00000524792.5:n.308del
ENST00000527805.5:c.4093del	ENSP00000435747.1:p.Leu1365SerfsTer?
ENST00000531525.2:c.100del	ENSP00000434327.2:p.Leu34SerfsTer21
ENST00000533733.5:n.522del
NM_000051.3:c.4093del , LRG_135t1:c.4093del	NP_000042.3:p.Leu1365SerfsTer21
XM_005271561.3:c.4093del	XP_005271618.2:p.Leu1365SerfsTer21
XM_005271562.3:c.4093del	XP_005271619.2:p.Leu1365SerfsTer21
XM_006718843.2:c.4093del	XP_006718906.1:p.Leu1365SerfsTer21
XM_006718845.1:c.49del	XP_006718908.1:p.Leu17SerfsTer21
XM_011542840.1:c.4093del	XP_011541142.1:p.Leu1365SerfsTer21
XM_011542841.1:c.4093del	XP_011541143.1:p.Leu1365SerfsTer21
XM_011542842.1:c.3928del	XP_011541144.1:p.Leu1310SerfsTer21
XM_011542843.1:c.4093del	XP_011541145.1:p.Leu1365SerfsTer21
XM_011542844.1:c.3049del	XP_011541146.1:p.Leu1017SerfsTer21
XM_011542845.1:c.2785del	XP_011541147.1:p.Leu929SerfsTer21
XM_011542846.1:c.4093del	XP_011541148.1:p.Leu1365SerfsTer21
NM_001351834.1:c.4093del	NP_001338763.1:p.Leu1365SerfsTer21
XM_005271562.5:c.4093del	XP_005271619.2:p.Leu1365SerfsTer21
XM_006718843.4:c.4093del	XP_006718906.1:p.Leu1365SerfsTer21
XM_006718845.2:c.49del	XP_006718908.1:p.Leu17SerfsTer21
XM_011542840.3:c.4093del	XP_011541142.1:p.Leu1365SerfsTer21
XM_011542842.3:c.3928del	XP_011541144.1:p.Leu1310SerfsTer21
XM_011542843.2:c.4093del	XP_011541145.1:p.Leu1365SerfsTer21
XM_011542844.3:c.3049del	XP_011541146.1:p.Leu1017SerfsTer21
XM_011542845.2:c.2785del	XP_011541147.1:p.Leu929SerfsTer21
XM_017017789.2:c.4093del	XP_016873278.1:p.Leu1365SerfsTer21
XM_017017790.2:c.4093del	XP_016873279.1:p.Leu1365SerfsTer21
XM_017017791.1:c.4093del	XP_016873280.1:p.Leu1365SerfsTer21
XM_017017792.2:c.4093del	XP_016873281.1:p.Leu1365SerfsTer21
XR_002957150.1:n.4826del
NM_001351834.2:c.4093del	NP_001338763.1:p.Leu1365SerfsTer21
NM_000051.4:c.4093del MANE Select	NP_000042.3:p.Leu1365SerfsTer21