Canonical Allele Identifier: CA915947637

Gene: ATM

Linked Data

• ClinVar Variation Id: 825919
• ClinVar RCV Id: RCV001024446
• dbSNP Id: rs1591732123

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307941_108307944del , CM000673.2:g.108307941_108307944del	GRCh38
NC_000011.9:g.108178668_108178671del , CM000673.1:g.108178668_108178671del	GRCh37
NC_000011.8:g.107683878_107683881del	NCBI36
NG_009830.1:g.90110_90113del , LRG_135:g.90110_90113del
NG_054724.1:g.166891_166894del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5719_5722del	ENSP00000388058.2:p.Arg1907GlnfsTer9
ENST00000713593.1:c.*5190_*5193del	ENSP00000518889.1:n.*5190_*5193del
ENST00000278616.9:c.5719_5722del	ENSP00000278616.4:p.Arg1907GlnfsTer9
ENST00000525056.2:n.138_141del
ENST00000682286.1:n.476_479del
ENST00000682302.1:n.137_140del
ENST00000683174.1:n.7203_7206del
ENST00000683524.1:n.943_946del
ENST00000684152.1:n.1433_1436del
ENST00000527805.6:c.*783_*786del	ENSP00000435747.2:n.*783_*786del
ENST00000675595.1:c.*783_*786del	ENSP00000502563.1:n.*783_*786del
ENST00000675843.1:c.5719_5722del MANE Select	ENSP00000501606.1:p.Arg1907GlnfsTer9
ENST00000278616.8:c.5719_5722del	ENSP00000278616.4:p.Arg1907GlnfsTer9
ENST00000452508.6:c.5719_5722del	ENSP00000388058.2:p.Arg1907GlnfsTer9
ENST00000524792.5:n.1934_1937del
ENST00000529588.5:c.187-2219_187-2216del
ENST00000533690.5:n.1123_1126del
NM_000051.3:c.5719_5722del , LRG_135t1:c.5719_5722del	NP_000042.3:p.Arg1907GlnfsTer9
XM_005271561.3:c.5719_5722del	XP_005271618.2:p.Arg1907GlnfsTer9
XM_005271562.3:c.5719_5722del	XP_005271619.2:p.Arg1907GlnfsTer9
XM_006718843.2:c.5719_5722del	XP_006718906.1:p.Arg1907GlnfsTer9
XM_006718845.1:c.1675_1678del	XP_006718908.1:p.Arg559GlnfsTer9
XM_011542840.1:c.5719_5722del	XP_011541142.1:p.Arg1907GlnfsTer9
XM_011542841.1:c.5719_5722del	XP_011541143.1:p.Arg1907GlnfsTer9
XM_011542842.1:c.5554_5557del	XP_011541144.1:p.Arg1852GlnfsTer9
XM_011542843.1:c.5719_5722del	XP_011541145.1:p.Arg1907GlnfsTer9
XM_011542844.1:c.4675_4678del	XP_011541146.1:p.Arg1559GlnfsTer9
XM_011542845.1:c.4411_4414del	XP_011541147.1:p.Arg1471GlnfsTer9
XM_011542847.1:c.790_793del	XP_011541149.1:p.Arg264GlnfsTer9
NM_001351834.1:c.5719_5722del	NP_001338763.1:p.Arg1907GlnfsTer9
XM_005271562.5:c.5719_5722del	XP_005271619.2:p.Arg1907GlnfsTer9
XM_006718843.4:c.5719_5722del	XP_006718906.1:p.Arg1907GlnfsTer9
XM_006718845.2:c.1675_1678del	XP_006718908.1:p.Arg559GlnfsTer9
XM_011542840.3:c.5719_5722del	XP_011541142.1:p.Arg1907GlnfsTer9
XM_011542842.3:c.5554_5557del	XP_011541144.1:p.Arg1852GlnfsTer9
XM_011542843.2:c.5719_5722del	XP_011541145.1:p.Arg1907GlnfsTer9
XM_011542844.3:c.4675_4678del	XP_011541146.1:p.Arg1559GlnfsTer9
XM_011542845.2:c.4411_4414del	XP_011541147.1:p.Arg1471GlnfsTer9
XM_017017789.2:c.5719_5722del	XP_016873278.1:p.Arg1907GlnfsTer9
XM_017017790.2:c.5719_5722del	XP_016873279.1:p.Arg1907GlnfsTer9
XM_017017791.1:c.5719_5722del	XP_016873280.1:p.Arg1907GlnfsTer9
XR_002957150.1:n.6319_6322del
NM_001351834.2:c.5719_5722del	NP_001338763.1:p.Arg1907GlnfsTer9
NM_000051.4:c.5719_5722del MANE Select	NP_000042.3:p.Arg1907GlnfsTer9