Canonical Allele Identifier: CA2825001772

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148357
• ClinVar RCV Id: RCV004440262

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253834_108253836delinsT , CM000673.2:g.108253834_108253836delinsT	GRCh38
NC_000011.9:g.108124561_108124563delinsT , CM000673.1:g.108124561_108124563delinsT	GRCh37
NC_000011.8:g.107629771_107629773delinsT	NCBI36
NG_009830.1:g.36003_36005delinsT , LRG_135:g.36003_36005delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1919_1921delinsT	ENSP00000388058.2:p.Lys640IlefsTer18
ENST00000713593.1:c.*1390_*1392delinsT	ENSP00000518889.1:n.*1390_*1392delinsT
ENST00000278616.9:c.1919_1921delinsT	ENSP00000278616.4:p.Lys640IlefsTer18
ENST00000682516.1:n.2053_2055delinsT
ENST00000683174.1:n.2069_2071delinsT
ENST00000683605.1:n.1414_1416delinsT
ENST00000684037.1:c.*854_*856delinsT	ENSP00000508245.1:n.*854_*856delinsT
ENST00000684061.1:n.2053_2055delinsT
ENST00000527805.6:c.1919_1921delinsT	ENSP00000435747.2:p.Lys640IlefsTer18
ENST00000675595.1:c.1754_1756delinsT	ENSP00000502563.1:p.Lys585IlefsTer18
ENST00000675843.1:c.1919_1921delinsT MANE Select	ENSP00000501606.1:p.Lys640IlefsTer18
ENST00000278616.8:c.1919_1921delinsT	ENSP00000278616.4:p.Lys640IlefsTer18
ENST00000452508.6:c.1919_1921delinsT	ENSP00000388058.2:p.Lys640IlefsTer18
ENST00000525012.5:n.96_98delinsT
ENST00000527805.5:c.1919_1921delinsT	ENSP00000435747.1:p.Lys640IlefsTer18
ENST00000533526.1:n.93-21_93-19delinsT
NM_000051.3:c.1919_1921delinsT , LRG_135t1:c.1919_1921delinsT	NP_000042.3:p.Lys640IlefsTer18
XM_005271561.3:c.1919_1921delinsT	XP_005271618.2:p.Lys640IlefsTer18
XM_005271562.3:c.1919_1921delinsT	XP_005271619.2:p.Lys640IlefsTer18
XM_006718843.2:c.1919_1921delinsT	XP_006718906.1:p.Lys640IlefsTer18
XM_011542840.1:c.1919_1921delinsT	XP_011541142.1:p.Lys640IlefsTer18
XM_011542841.1:c.1919_1921delinsT	XP_011541143.1:p.Lys640IlefsTer18
XM_011542842.1:c.1754_1756delinsT	XP_011541144.1:p.Lys585IlefsTer18
XM_011542843.1:c.1919_1921delinsT	XP_011541145.1:p.Lys640IlefsTer18
XM_011542844.1:c.875_877delinsT	XP_011541146.1:p.Lys292IlefsTer18
XM_011542845.1:c.611_613delinsT	XP_011541147.1:p.Lys204IlefsTer18
XM_011542846.1:c.1919_1921delinsT	XP_011541148.1:p.Lys640IlefsTer18
NM_001351834.1:c.1919_1921delinsT	NP_001338763.1:p.Lys640IlefsTer18
XM_005271562.5:c.1919_1921delinsT	XP_005271619.2:p.Lys640IlefsTer18
XM_006718843.4:c.1919_1921delinsT	XP_006718906.1:p.Lys640IlefsTer18
XM_011542840.3:c.1919_1921delinsT	XP_011541142.1:p.Lys640IlefsTer18
XM_011542842.3:c.1754_1756delinsT	XP_011541144.1:p.Lys585IlefsTer18
XM_011542843.2:c.1919_1921delinsT	XP_011541145.1:p.Lys640IlefsTer18
XM_011542844.3:c.875_877delinsT	XP_011541146.1:p.Lys292IlefsTer18
XM_011542845.2:c.611_613delinsT	XP_011541147.1:p.Lys204IlefsTer18
XM_017017789.2:c.1919_1921delinsT	XP_016873278.1:p.Lys640IlefsTer18
XM_017017790.2:c.1919_1921delinsT	XP_016873279.1:p.Lys640IlefsTer18
XM_017017791.1:c.1919_1921delinsT	XP_016873280.1:p.Lys640IlefsTer18
XM_017017792.2:c.1919_1921delinsT	XP_016873281.1:p.Lys640IlefsTer18
XR_002957150.1:n.2652_2654delinsT
NM_001351834.2:c.1919_1921delinsT	NP_001338763.1:p.Lys640IlefsTer18
NM_000051.4:c.1919_1921delinsT MANE Select	NP_000042.3:p.Lys640IlefsTer18