Canonical Allele Identifier: CA1139662168

Gene: ATM

Linked Data

• ClinVar Variation Id: 953584
• ClinVar RCV Id: RCV001225897
• dbSNP Id: rs2080577927

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257534_108257535insTT , CM000673.2:g.108257534_108257535insTT	GRCh38
NC_000011.9:g.108128261_108128262insTT , CM000673.1:g.108128261_108128262insTT	GRCh37
NC_000011.8:g.107633471_107633472insTT	NCBI36
NG_009830.1:g.39703_39704insTT , LRG_135:g.39703_39704insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2304_2305insTT	ENSP00000388058.2:p.Glu769LeufsTer9
ENST00000713593.1:c.*1775_*1776insTT	ENSP00000518889.1:n.*1775_*1776insTT
ENST00000278616.9:c.2304_2305insTT	ENSP00000278616.4:p.Glu769LeufsTer9
ENST00000682516.1:n.2438_2439insTT
ENST00000683174.1:n.2454_2455insTT
ENST00000683605.1:n.1799_1800insTT
ENST00000684037.1:c.*1239_*1240insTT	ENSP00000508245.1:n.*1239_*1240insTT
ENST00000527805.6:c.2304_2305insTT	ENSP00000435747.2:p.Glu769LeufsTer9
ENST00000675595.1:c.2139_2140insTT	ENSP00000502563.1:p.Glu714LeufsTer9
ENST00000675843.1:c.2304_2305insTT MANE Select	ENSP00000501606.1:p.Glu769LeufsTer9
ENST00000278616.8:c.2304_2305insTT	ENSP00000278616.4:p.Glu769LeufsTer9
ENST00000452508.6:c.2304_2305insTT	ENSP00000388058.2:p.Glu769LeufsTer9
ENST00000527805.5:c.2304_2305insTT	ENSP00000435747.1:p.Glu769LeufsTer9
NM_000051.3:c.2304_2305insTT , LRG_135t1:c.2304_2305insTT	NP_000042.3:p.Glu769LeufsTer9
XM_005271561.3:c.2304_2305insTT	XP_005271618.2:p.Glu769LeufsTer9
XM_005271562.3:c.2304_2305insTT	XP_005271619.2:p.Glu769LeufsTer9
XM_006718843.2:c.2304_2305insTT	XP_006718906.1:p.Glu769LeufsTer9
XM_011542840.1:c.2304_2305insTT	XP_011541142.1:p.Glu769LeufsTer9
XM_011542841.1:c.2304_2305insTT	XP_011541143.1:p.Glu769LeufsTer9
XM_011542842.1:c.2139_2140insTT	XP_011541144.1:p.Glu714LeufsTer9
XM_011542843.1:c.2304_2305insTT	XP_011541145.1:p.Glu769LeufsTer9
XM_011542844.1:c.1260_1261insTT	XP_011541146.1:p.Glu421LeufsTer9
XM_011542845.1:c.996_997insTT	XP_011541147.1:p.Glu333LeufsTer9
XM_011542846.1:c.2304_2305insTT	XP_011541148.1:p.Glu769LeufsTer9
NM_001351834.1:c.2304_2305insTT	NP_001338763.1:p.Glu769LeufsTer9
XM_005271562.5:c.2304_2305insTT	XP_005271619.2:p.Glu769LeufsTer9
XM_006718843.4:c.2304_2305insTT	XP_006718906.1:p.Glu769LeufsTer9
XM_011542840.3:c.2304_2305insTT	XP_011541142.1:p.Glu769LeufsTer9
XM_011542842.3:c.2139_2140insTT	XP_011541144.1:p.Glu714LeufsTer9
XM_011542843.2:c.2304_2305insTT	XP_011541145.1:p.Glu769LeufsTer9
XM_011542844.3:c.1260_1261insTT	XP_011541146.1:p.Glu421LeufsTer9
XM_011542845.2:c.996_997insTT	XP_011541147.1:p.Glu333LeufsTer9
XM_017017789.2:c.2304_2305insTT	XP_016873278.1:p.Glu769LeufsTer9
XM_017017790.2:c.2304_2305insTT	XP_016873279.1:p.Glu769LeufsTer9
XM_017017791.1:c.2304_2305insTT	XP_016873280.1:p.Glu769LeufsTer9
XM_017017792.2:c.2304_2305insTT	XP_016873281.1:p.Glu769LeufsTer9
XR_002957150.1:n.3037_3038insTT
NM_001351834.2:c.2304_2305insTT	NP_001338763.1:p.Glu769LeufsTer9
NM_000051.4:c.2304_2305insTT MANE Select	NP_000042.3:p.Glu769LeufsTer9