Canonical Allele Identifier: CA2573146774

Gene: ATM

Linked Data

• ClinVar Variation Id: 1376389
• ClinVar RCV Id: RCV001885860 ; RCV004041069
• dbSNP Id: rs2135368545

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253907dup , CM000673.2:g.108253907dup	GRCh38
NC_000011.9:g.108124634dup , CM000673.1:g.108124634dup	GRCh37
NC_000011.8:g.107629844dup	NCBI36
NG_009830.1:g.36076dup , LRG_135:g.36076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1992dup	ENSP00000388058.2:p.Ile665HisfsTer?
ENST00000713593.1:c.*1463dup	ENSP00000518889.1:n.*1463dup
ENST00000278616.9:c.1992dup	ENSP00000278616.4:p.Ile665HisfsTer?
ENST00000682516.1:n.2126dup
ENST00000683174.1:n.2142dup
ENST00000683605.1:n.1487dup
ENST00000684037.1:c.*927dup	ENSP00000508245.1:n.*927dup
ENST00000684061.1:n.2126dup
ENST00000527805.6:c.1992dup	ENSP00000435747.2:p.Ile665HisfsTer?
ENST00000675595.1:c.1827dup	ENSP00000502563.1:p.Ile610HisfsTer?
ENST00000675843.1:c.1992dup MANE Select	ENSP00000501606.1:p.Ile665HisfsTer?
ENST00000278616.8:c.1992dup	ENSP00000278616.4:p.Ile665HisfsTer?
ENST00000452508.6:c.1992dup	ENSP00000388058.2:p.Ile665HisfsTer?
ENST00000525012.5:n.169dup
ENST00000527805.5:c.1992dup	ENSP00000435747.1:p.Ile665HisfsTer?
ENST00000533526.1:n.145dup
NM_000051.3:c.1992dup , LRG_135t1:c.1992dup	NP_000042.3:p.Ile665HisfsTer?
XM_005271561.3:c.1992dup	XP_005271618.2:p.Ile665HisfsTer?
XM_005271562.3:c.1992dup	XP_005271619.2:p.Ile665HisfsTer?
XM_006718843.2:c.1992dup	XP_006718906.1:p.Ile665HisfsTer?
XM_011542840.1:c.1992dup	XP_011541142.1:p.Ile665HisfsTer?
XM_011542841.1:c.1992dup	XP_011541143.1:p.Ile665HisfsTer?
XM_011542842.1:c.1827dup	XP_011541144.1:p.Ile610HisfsTer?
XM_011542843.1:c.1992dup	XP_011541145.1:p.Ile665HisfsTer?
XM_011542844.1:c.948dup	XP_011541146.1:p.Ile317HisfsTer?
XM_011542845.1:c.684dup	XP_011541147.1:p.Ile229HisfsTer?
XM_011542846.1:c.1992dup	XP_011541148.1:p.Ile665HisfsTer?
NM_001351834.1:c.1992dup	NP_001338763.1:p.Ile665HisfsTer?
XM_005271562.5:c.1992dup	XP_005271619.2:p.Ile665HisfsTer?
XM_006718843.4:c.1992dup	XP_006718906.1:p.Ile665HisfsTer?
XM_011542840.3:c.1992dup	XP_011541142.1:p.Ile665HisfsTer?
XM_011542842.3:c.1827dup	XP_011541144.1:p.Ile610HisfsTer?
XM_011542843.2:c.1992dup	XP_011541145.1:p.Ile665HisfsTer?
XM_011542844.3:c.948dup	XP_011541146.1:p.Ile317HisfsTer?
XM_011542845.2:c.684dup	XP_011541147.1:p.Ile229HisfsTer?
XM_017017789.2:c.1992dup	XP_016873278.1:p.Ile665HisfsTer?
XM_017017790.2:c.1992dup	XP_016873279.1:p.Ile665HisfsTer?
XM_017017791.1:c.1992dup	XP_016873280.1:p.Ile665HisfsTer?
XM_017017792.2:c.1992dup	XP_016873281.1:p.Ile665HisfsTer?
XR_002957150.1:n.2725dup
NM_001351834.2:c.1992dup	NP_001338763.1:p.Ile665HisfsTer?
NM_000051.4:c.1992dup MANE Select	NP_000042.3:p.Ile665HisfsTer?