Canonical Allele Identifier: CA2573146780

Gene: ATM

Linked Data

• ClinVar Variation Id: 1524368
• ClinVar RCV Id: RCV002031667
• dbSNP Id: rs2135370232

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253979_108253987del , CM000673.2:g.108253979_108253987del	GRCh38
NC_000011.9:g.108124706_108124714del , CM000673.1:g.108124706_108124714del	GRCh37
NC_000011.8:g.107629916_107629924del	NCBI36
NG_009830.1:g.36148_36156del , LRG_135:g.36148_36156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2064_2072del	ENSP00000388058.2:p.Glu688_Leu690del
ENST00000713593.1:c.*1535_*1543del	ENSP00000518889.1:n.*1535_*1543del
ENST00000278616.9:c.2064_2072del	ENSP00000278616.4:p.Glu688_Leu690del
ENST00000682516.1:n.2198_2206del
ENST00000683174.1:n.2214_2222del
ENST00000683605.1:n.1559_1567del
ENST00000684037.1:c.*999_*1007del	ENSP00000508245.1:n.*999_*1007del
ENST00000684061.1:n.2198_2206del
ENST00000527805.6:c.2064_2072del	ENSP00000435747.2:p.Glu688_Leu690del
ENST00000675595.1:c.1899_1907del	ENSP00000502563.1:p.Glu633_Leu635del
ENST00000675843.1:c.2064_2072del MANE Select	ENSP00000501606.1:p.Glu688_Leu690del
ENST00000278616.8:c.2064_2072del	ENSP00000278616.4:p.Glu688_Leu690del
ENST00000452508.6:c.2064_2072del	ENSP00000388058.2:p.Glu688_Leu690del
ENST00000525012.5:n.241_249del
ENST00000527805.5:c.2064_2072del	ENSP00000435747.1:p.Glu688_Leu690del
ENST00000533526.1:n.217_225del
NM_000051.3:c.2064_2072del , LRG_135t1:c.2064_2072del	NP_000042.3:p.Glu688_Leu690del
XM_005271561.3:c.2064_2072del	XP_005271618.2:p.Glu688_Leu690del
XM_005271562.3:c.2064_2072del	XP_005271619.2:p.Glu688_Leu690del
XM_006718843.2:c.2064_2072del	XP_006718906.1:p.Glu688_Leu690del
XM_011542840.1:c.2064_2072del	XP_011541142.1:p.Glu688_Leu690del
XM_011542841.1:c.2064_2072del	XP_011541143.1:p.Glu688_Leu690del
XM_011542842.1:c.1899_1907del	XP_011541144.1:p.Glu633_Leu635del
XM_011542843.1:c.2064_2072del	XP_011541145.1:p.Glu688_Leu690del
XM_011542844.1:c.1020_1028del	XP_011541146.1:p.Glu340_Leu342del
XM_011542845.1:c.756_764del	XP_011541147.1:p.Glu252_Leu254del
XM_011542846.1:c.2064_2072del	XP_011541148.1:p.Glu688_Leu690del
NM_001351834.1:c.2064_2072del	NP_001338763.1:p.Glu688_Leu690del
XM_005271562.5:c.2064_2072del	XP_005271619.2:p.Glu688_Leu690del
XM_006718843.4:c.2064_2072del	XP_006718906.1:p.Glu688_Leu690del
XM_011542840.3:c.2064_2072del	XP_011541142.1:p.Glu688_Leu690del
XM_011542842.3:c.1899_1907del	XP_011541144.1:p.Glu633_Leu635del
XM_011542843.2:c.2064_2072del	XP_011541145.1:p.Glu688_Leu690del
XM_011542844.3:c.1020_1028del	XP_011541146.1:p.Glu340_Leu342del
XM_011542845.2:c.756_764del	XP_011541147.1:p.Glu252_Leu254del
XM_017017789.2:c.2064_2072del	XP_016873278.1:p.Glu688_Leu690del
XM_017017790.2:c.2064_2072del	XP_016873279.1:p.Glu688_Leu690del
XM_017017791.1:c.2064_2072del	XP_016873280.1:p.Glu688_Leu690del
XM_017017792.2:c.2064_2072del	XP_016873281.1:p.Glu688_Leu690del
XR_002957150.1:n.2797_2805del
NM_001351834.2:c.2064_2072del	NP_001338763.1:p.Glu688_Leu690del
NM_000051.4:c.2064_2072del MANE Select	NP_000042.3:p.Glu688_Leu690del