Canonical Allele Identifier: CA2580083160

Gene: ATM

Linked Data

• ClinVar Variation Id: 2124551
• ClinVar RCV Id: RCV003057217

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304677_108304687del , CM000673.2:g.108304677_108304687del	GRCh38
NC_000011.9:g.108175404_108175414del , CM000673.1:g.108175404_108175414del	GRCh37
NC_000011.8:g.107680614_107680624del	NCBI36
NG_009830.1:g.86846_86856del , LRG_135:g.86846_86856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5499_5509del	ENSP00000388058.2:p.Lys1834LeufsTer11
ENST00000713593.1:c.*4970_*4980del	ENSP00000518889.1:n.*4970_*4980del
ENST00000278616.9:c.5499_5509del	ENSP00000278616.4:p.Lys1834LeufsTer11
ENST00000683174.1:n.6983_6993del
ENST00000683524.1:n.723_733del
ENST00000684152.1:n.1213_1223del
ENST00000527805.6:c.*563_*573del	ENSP00000435747.2:n.*563_*573del
ENST00000675595.1:c.*563_*573del	ENSP00000502563.1:n.*563_*573del
ENST00000675843.1:c.5499_5509del MANE Select	ENSP00000501606.1:p.Lys1834LeufsTer11
ENST00000278616.8:c.5499_5509del	ENSP00000278616.4:p.Lys1834LeufsTer11
ENST00000452508.6:c.5499_5509del	ENSP00000388058.2:p.Lys1834LeufsTer11
ENST00000524792.5:n.1714_1724del
ENST00000529588.5:c.11_21del
ENST00000533690.5:n.903_913del
NM_000051.3:c.5499_5509del , LRG_135t1:c.5499_5509del	NP_000042.3:p.Lys1834LeufsTer11
XM_005271561.3:c.5499_5509del	XP_005271618.2:p.Lys1834LeufsTer11
XM_005271562.3:c.5499_5509del	XP_005271619.2:p.Lys1834LeufsTer11
XM_006718843.2:c.5499_5509del	XP_006718906.1:p.Lys1834LeufsTer11
XM_006718845.1:c.1455_1465del	XP_006718908.1:p.Lys486LeufsTer11
XM_011542840.1:c.5499_5509del	XP_011541142.1:p.Lys1834LeufsTer11
XM_011542841.1:c.5499_5509del	XP_011541143.1:p.Lys1834LeufsTer11
XM_011542842.1:c.5334_5344del	XP_011541144.1:p.Lys1779LeufsTer11
XM_011542843.1:c.5499_5509del	XP_011541145.1:p.Lys1834LeufsTer11
XM_011542844.1:c.4455_4465del	XP_011541146.1:p.Lys1486LeufsTer11
XM_011542845.1:c.4191_4201del	XP_011541147.1:p.Lys1398LeufsTer11
XM_011542847.1:c.570_580del	XP_011541149.1:p.Lys191LeufsTer11
NM_001351834.1:c.5499_5509del	NP_001338763.1:p.Lys1834LeufsTer11
XM_005271562.5:c.5499_5509del	XP_005271619.2:p.Lys1834LeufsTer11
XM_006718843.4:c.5499_5509del	XP_006718906.1:p.Lys1834LeufsTer11
XM_006718845.2:c.1455_1465del	XP_006718908.1:p.Lys486LeufsTer11
XM_011542840.3:c.5499_5509del	XP_011541142.1:p.Lys1834LeufsTer11
XM_011542842.3:c.5334_5344del	XP_011541144.1:p.Lys1779LeufsTer11
XM_011542843.2:c.5499_5509del	XP_011541145.1:p.Lys1834LeufsTer11
XM_011542844.3:c.4455_4465del	XP_011541146.1:p.Lys1486LeufsTer11
XM_011542845.2:c.4191_4201del	XP_011541147.1:p.Lys1398LeufsTer11
XM_017017789.2:c.5499_5509del	XP_016873278.1:p.Lys1834LeufsTer11
XM_017017790.2:c.5499_5509del	XP_016873279.1:p.Lys1834LeufsTer11
XM_017017791.1:c.5499_5509del	XP_016873280.1:p.Lys1834LeufsTer11
XR_002957150.1:n.6099_6109del
NM_001351834.2:c.5499_5509del	NP_001338763.1:p.Lys1834LeufsTer11
NM_000051.4:c.5499_5509del MANE Select	NP_000042.3:p.Lys1834LeufsTer11