Canonical Allele Identifier: CA891842921

Gene: ATM

Linked Data

• ClinVar Variation Id: 576046
• ClinVar RCV Id: RCV000698442
• dbSNP Id: rs1565453029
• MyVariant Identifiers: chr11:g.108158434del (hg19) ; chr11:g.108287707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287707del , CM000673.2:g.108287707del	GRCh38
NC_000011.9:g.108158434del , CM000673.1:g.108158434del	GRCh37
NC_000011.8:g.107663644del	NCBI36
NG_009830.1:g.69876del , LRG_135:g.69876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4101del	ENSP00000388058.2:p.Ser1369GlnfsTer17
ENST00000713593.1:c.*3572del	ENSP00000518889.1:n.*3572del
ENST00000278616.9:c.4101del	ENSP00000278616.4:p.Ser1369GlnfsTer17
ENST00000533733.6:n.1364del
ENST00000683174.1:n.4251del
ENST00000527805.6:c.4101del	ENSP00000435747.2:p.Ser1369GlnfsTer17
ENST00000675595.1:c.3936del	ENSP00000502563.1:p.Ser1314GlnfsTer17
ENST00000675843.1:c.4101del MANE Select	ENSP00000501606.1:p.Ser1369GlnfsTer17
ENST00000278616.8:c.4101del	ENSP00000278616.4:p.Ser1369GlnfsTer17
ENST00000452508.6:c.4101del	ENSP00000388058.2:p.Ser1369GlnfsTer17
ENST00000524792.5:n.316del
ENST00000527805.5:c.4101del	ENSP00000435747.1:p.Ser1369GlnfsTer?
ENST00000531525.2:c.108del	ENSP00000434327.2:p.Ser38GlnfsTer17
ENST00000533733.5:n.530del
NM_000051.3:c.4101del , LRG_135t1:c.4101del	NP_000042.3:p.Ser1369GlnfsTer17
XM_005271561.3:c.4101del	XP_005271618.2:p.Ser1369GlnfsTer17
XM_005271562.3:c.4101del	XP_005271619.2:p.Ser1369GlnfsTer17
XM_006718843.2:c.4101del	XP_006718906.1:p.Ser1369GlnfsTer17
XM_006718845.1:c.57del	XP_006718908.1:p.Ser21GlnfsTer17
XM_011542840.1:c.4101del	XP_011541142.1:p.Ser1369GlnfsTer17
XM_011542841.1:c.4101del	XP_011541143.1:p.Ser1369GlnfsTer17
XM_011542842.1:c.3936del	XP_011541144.1:p.Ser1314GlnfsTer17
XM_011542843.1:c.4101del	XP_011541145.1:p.Ser1369GlnfsTer17
XM_011542844.1:c.3057del	XP_011541146.1:p.Ser1021GlnfsTer17
XM_011542845.1:c.2793del	XP_011541147.1:p.Ser933GlnfsTer17
XM_011542846.1:c.4101del	XP_011541148.1:p.Ser1369GlnfsTer17
NM_001351834.1:c.4101del	NP_001338763.1:p.Ser1369GlnfsTer17
XM_005271562.5:c.4101del	XP_005271619.2:p.Ser1369GlnfsTer17
XM_006718843.4:c.4101del	XP_006718906.1:p.Ser1369GlnfsTer17
XM_006718845.2:c.57del	XP_006718908.1:p.Ser21GlnfsTer17
XM_011542840.3:c.4101del	XP_011541142.1:p.Ser1369GlnfsTer17
XM_011542842.3:c.3936del	XP_011541144.1:p.Ser1314GlnfsTer17
XM_011542843.2:c.4101del	XP_011541145.1:p.Ser1369GlnfsTer17
XM_011542844.3:c.3057del	XP_011541146.1:p.Ser1021GlnfsTer17
XM_011542845.2:c.2793del	XP_011541147.1:p.Ser933GlnfsTer17
XM_017017789.2:c.4101del	XP_016873278.1:p.Ser1369GlnfsTer17
XM_017017790.2:c.4101del	XP_016873279.1:p.Ser1369GlnfsTer17
XM_017017791.1:c.4101del	XP_016873280.1:p.Ser1369GlnfsTer17
XM_017017792.2:c.4101del	XP_016873281.1:p.Ser1369GlnfsTer17
XR_002957150.1:n.4834del
NM_001351834.2:c.4101del	NP_001338763.1:p.Ser1369GlnfsTer17
NM_000051.4:c.4101del MANE Select	NP_000042.3:p.Ser1369GlnfsTer17