Canonical Allele Identifier: CA2825001909

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148504
• ClinVar RCV Id: RCV004440413

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304732_108304735delinsTAAA , CM000673.2:g.108304732_108304735delinsTAAA	GRCh38
NC_000011.9:g.108175459_108175462delinsTAAA , CM000673.1:g.108175459_108175462delinsTAAA	GRCh37
NC_000011.8:g.107680669_107680672delinsTAAA	NCBI36
NG_009830.1:g.86901_86904delinsTAAA , LRG_135:g.86901_86904delinsTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5554_5557delinsTAAA	ENSP00000388058.2:p.Gln1852Ter
ENST00000713593.1:c.*5025_*5028delinsTAAA	ENSP00000518889.1:n.*5025_*5028delinsTAAA
ENST00000278616.9:c.5554_5557delinsTAAA	ENSP00000278616.4:p.Gln1852Ter
ENST00000683174.1:n.7038_7041delinsTAAA
ENST00000683524.1:n.778_781delinsTAAA
ENST00000684152.1:n.1268_1271delinsTAAA
ENST00000527805.6:c.*618_*621delinsTAAA	ENSP00000435747.2:n.*618_*621delinsTAAA
ENST00000675595.1:c.*618_*621delinsTAAA	ENSP00000502563.1:n.*618_*621delinsTAAA
ENST00000675843.1:c.5554_5557delinsTAAA MANE Select	ENSP00000501606.1:p.Gln1852Ter
ENST00000278616.8:c.5554_5557delinsTAAA	ENSP00000278616.4:p.Gln1852Ter
ENST00000452508.6:c.5554_5557delinsTAAA	ENSP00000388058.2:p.Gln1852Ter
ENST00000524792.5:n.1769_1772delinsTAAA
ENST00000529588.5:c.66_69delinsTAAA
ENST00000533690.5:n.958_961delinsTAAA
NM_000051.3:c.5554_5557delinsTAAA , LRG_135t1:c.5554_5557delinsTAAA	NP_000042.3:p.Gln1852Ter
XM_005271561.3:c.5554_5557delinsTAAA	XP_005271618.2:p.Gln1852Ter
XM_005271562.3:c.5554_5557delinsTAAA	XP_005271619.2:p.Gln1852Ter
XM_006718843.2:c.5554_5557delinsTAAA	XP_006718906.1:p.Gln1852Ter
XM_006718845.1:c.1510_1513delinsTAAA	XP_006718908.1:p.Gln504Ter
XM_011542840.1:c.5554_5557delinsTAAA	XP_011541142.1:p.Gln1852Ter
XM_011542841.1:c.5554_5557delinsTAAA	XP_011541143.1:p.Gln1852Ter
XM_011542842.1:c.5389_5392delinsTAAA	XP_011541144.1:p.Gln1797Ter
XM_011542843.1:c.5554_5557delinsTAAA	XP_011541145.1:p.Gln1852Ter
XM_011542844.1:c.4510_4513delinsTAAA	XP_011541146.1:p.Gln1504Ter
XM_011542845.1:c.4246_4249delinsTAAA	XP_011541147.1:p.Gln1416Ter
XM_011542847.1:c.625_628delinsTAAA	XP_011541149.1:p.Gln209Ter
NM_001351834.1:c.5554_5557delinsTAAA	NP_001338763.1:p.Gln1852Ter
XM_005271562.5:c.5554_5557delinsTAAA	XP_005271619.2:p.Gln1852Ter
XM_006718843.4:c.5554_5557delinsTAAA	XP_006718906.1:p.Gln1852Ter
XM_006718845.2:c.1510_1513delinsTAAA	XP_006718908.1:p.Gln504Ter
XM_011542840.3:c.5554_5557delinsTAAA	XP_011541142.1:p.Gln1852Ter
XM_011542842.3:c.5389_5392delinsTAAA	XP_011541144.1:p.Gln1797Ter
XM_011542843.2:c.5554_5557delinsTAAA	XP_011541145.1:p.Gln1852Ter
XM_011542844.3:c.4510_4513delinsTAAA	XP_011541146.1:p.Gln1504Ter
XM_011542845.2:c.4246_4249delinsTAAA	XP_011541147.1:p.Gln1416Ter
XM_017017789.2:c.5554_5557delinsTAAA	XP_016873278.1:p.Gln1852Ter
XM_017017790.2:c.5554_5557delinsTAAA	XP_016873279.1:p.Gln1852Ter
XM_017017791.1:c.5554_5557delinsTAAA	XP_016873280.1:p.Gln1852Ter
XR_002957150.1:n.6154_6157delinsTAAA
NM_001351834.2:c.5554_5557delinsTAAA	NP_001338763.1:p.Gln1852Ter
NM_000051.4:c.5554_5557delinsTAAA MANE Select	NP_000042.3:p.Gln1852Ter