Canonical Allele Identifier: CA2695199015

Gene: ATM

Linked Data

• ClinVar Variation Id: 2681143
• ClinVar RCV Id: RCV003468676

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108254001_108254002dup , CM000673.2:g.108254001_108254002dup	GRCh38
NC_000011.9:g.108124728_108124729dup , CM000673.1:g.108124728_108124729dup	GRCh37
NC_000011.8:g.107629938_107629939dup	NCBI36
NG_009830.1:g.36170_36171dup , LRG_135:g.36170_36171dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2086_2087dup	ENSP00000388058.2:p.Leu697AspfsTer7
ENST00000713593.1:c.*1557_*1558dup	ENSP00000518889.1:n.*1557_*1558dup
ENST00000278616.9:c.2086_2087dup	ENSP00000278616.4:p.Leu697AspfsTer7
ENST00000682516.1:n.2220_2221dup
ENST00000683174.1:n.2236_2237dup
ENST00000683605.1:n.1581_1582dup
ENST00000684037.1:c.*1021_*1022dup	ENSP00000508245.1:n.*1021_*1022dup
ENST00000684061.1:n.2220_2221dup
ENST00000527805.6:c.2086_2087dup	ENSP00000435747.2:p.Leu697AspfsTer7
ENST00000675595.1:c.1921_1922dup	ENSP00000502563.1:p.Leu642AspfsTer7
ENST00000675843.1:c.2086_2087dup MANE Select	ENSP00000501606.1:p.Leu697AspfsTer7
ENST00000278616.8:c.2086_2087dup	ENSP00000278616.4:p.Leu697AspfsTer7
ENST00000452508.6:c.2086_2087dup	ENSP00000388058.2:p.Leu697AspfsTer7
ENST00000527805.5:c.2086_2087dup	ENSP00000435747.1:p.Leu697AspfsTer7
NM_000051.3:c.2086_2087dup , LRG_135t1:c.2086_2087dup	NP_000042.3:p.Leu697AspfsTer7
XM_005271561.3:c.2086_2087dup	XP_005271618.2:p.Leu697AspfsTer7
XM_005271562.3:c.2086_2087dup	XP_005271619.2:p.Leu697AspfsTer7
XM_006718843.2:c.2086_2087dup	XP_006718906.1:p.Leu697AspfsTer7
XM_011542840.1:c.2086_2087dup	XP_011541142.1:p.Leu697AspfsTer7
XM_011542841.1:c.2086_2087dup	XP_011541143.1:p.Leu697AspfsTer7
XM_011542842.1:c.1921_1922dup	XP_011541144.1:p.Leu642AspfsTer7
XM_011542843.1:c.2086_2087dup	XP_011541145.1:p.Leu697AspfsTer7
XM_011542844.1:c.1042_1043dup	XP_011541146.1:p.Leu349AspfsTer7
XM_011542845.1:c.778_779dup	XP_011541147.1:p.Leu261AspfsTer7
XM_011542846.1:c.2086_2087dup	XP_011541148.1:p.Leu697AspfsTer7
NM_001351834.1:c.2086_2087dup	NP_001338763.1:p.Leu697AspfsTer7
XM_005271562.5:c.2086_2087dup	XP_005271619.2:p.Leu697AspfsTer7
XM_006718843.4:c.2086_2087dup	XP_006718906.1:p.Leu697AspfsTer7
XM_011542840.3:c.2086_2087dup	XP_011541142.1:p.Leu697AspfsTer7
XM_011542842.3:c.1921_1922dup	XP_011541144.1:p.Leu642AspfsTer7
XM_011542843.2:c.2086_2087dup	XP_011541145.1:p.Leu697AspfsTer7
XM_011542844.3:c.1042_1043dup	XP_011541146.1:p.Leu349AspfsTer7
XM_011542845.2:c.778_779dup	XP_011541147.1:p.Leu261AspfsTer7
XM_017017789.2:c.2086_2087dup	XP_016873278.1:p.Leu697AspfsTer7
XM_017017790.2:c.2086_2087dup	XP_016873279.1:p.Leu697AspfsTer7
XM_017017791.1:c.2086_2087dup	XP_016873280.1:p.Leu697AspfsTer7
XM_017017792.2:c.2086_2087dup	XP_016873281.1:p.Leu697AspfsTer7
XR_002957150.1:n.2819_2820dup
NM_001351834.2:c.2086_2087dup	NP_001338763.1:p.Leu697AspfsTer7
NM_000051.4:c.2086_2087dup MANE Select	NP_000042.3:p.Leu697AspfsTer7