Canonical Allele Identifier: CA2695215395

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304737_108304738del , CM000673.2:g.108304737_108304738del	GRCh38
NC_000011.9:g.108175464_108175465del , CM000673.1:g.108175464_108175465del	GRCh37
NC_000011.8:g.107680674_107680675del	NCBI36
NG_009830.1:g.86906_86907del , LRG_135:g.86906_86907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5559_5560del	ENSP00000388058.2:p.Thr1854LysfsTer2
ENST00000713593.1:c.*5030_*5031del	ENSP00000518889.1:n.*5030_*5031del
ENST00000278616.9:c.5559_5560del	ENSP00000278616.4:p.Thr1854LysfsTer2
ENST00000683174.1:n.7043_7044del
ENST00000683524.1:n.783_784del
ENST00000684152.1:n.1273_1274del
ENST00000527805.6:c.*623_*624del	ENSP00000435747.2:n.*623_*624del
ENST00000675595.1:c.*623_*624del	ENSP00000502563.1:n.*623_*624del
ENST00000675843.1:c.5559_5560del MANE Select	ENSP00000501606.1:p.Thr1854LysfsTer2
ENST00000278616.8:c.5559_5560del	ENSP00000278616.4:p.Thr1854LysfsTer2
ENST00000452508.6:c.5559_5560del	ENSP00000388058.2:p.Thr1854LysfsTer2
ENST00000524792.5:n.1774_1775del
ENST00000529588.5:c.71_72del
ENST00000533690.5:n.963_964del
NM_000051.3:c.5559_5560del , LRG_135t1:c.5559_5560del	NP_000042.3:p.Thr1854LysfsTer2
XM_005271561.3:c.5559_5560del	XP_005271618.2:p.Thr1854LysfsTer2
XM_005271562.3:c.5559_5560del	XP_005271619.2:p.Thr1854LysfsTer2
XM_006718843.2:c.5559_5560del	XP_006718906.1:p.Thr1854LysfsTer2
XM_006718845.1:c.1515_1516del	XP_006718908.1:p.Thr506LysfsTer2
XM_011542840.1:c.5559_5560del	XP_011541142.1:p.Thr1854LysfsTer2
XM_011542841.1:c.5559_5560del	XP_011541143.1:p.Thr1854LysfsTer2
XM_011542842.1:c.5394_5395del	XP_011541144.1:p.Thr1799LysfsTer2
XM_011542843.1:c.5559_5560del	XP_011541145.1:p.Thr1854LysfsTer2
XM_011542844.1:c.4515_4516del	XP_011541146.1:p.Thr1506LysfsTer2
XM_011542845.1:c.4251_4252del	XP_011541147.1:p.Thr1418LysfsTer2
XM_011542847.1:c.630_631del	XP_011541149.1:p.Thr211LysfsTer2
NM_001351834.1:c.5559_5560del	NP_001338763.1:p.Thr1854LysfsTer2
XM_005271562.5:c.5559_5560del	XP_005271619.2:p.Thr1854LysfsTer2
XM_006718843.4:c.5559_5560del	XP_006718906.1:p.Thr1854LysfsTer2
XM_006718845.2:c.1515_1516del	XP_006718908.1:p.Thr506LysfsTer2
XM_011542840.3:c.5559_5560del	XP_011541142.1:p.Thr1854LysfsTer2
XM_011542842.3:c.5394_5395del	XP_011541144.1:p.Thr1799LysfsTer2
XM_011542843.2:c.5559_5560del	XP_011541145.1:p.Thr1854LysfsTer2
XM_011542844.3:c.4515_4516del	XP_011541146.1:p.Thr1506LysfsTer2
XM_011542845.2:c.4251_4252del	XP_011541147.1:p.Thr1418LysfsTer2
XM_017017789.2:c.5559_5560del	XP_016873278.1:p.Thr1854LysfsTer2
XM_017017790.2:c.5559_5560del	XP_016873279.1:p.Thr1854LysfsTer2
XM_017017791.1:c.5559_5560del	XP_016873280.1:p.Thr1854LysfsTer2
XR_002957150.1:n.6159_6160del
NM_001351834.2:c.5559_5560del	NP_001338763.1:p.Thr1854LysfsTer2
NM_000051.4:c.5559_5560del MANE Select	NP_000042.3:p.Thr1854LysfsTer2