Canonical Allele Identifier: CA658656268

Gene: ATM

Linked Data

• ClinVar Variation Id: 453598
• ClinVar RCV Id: RCV000526456 ; RCV001024443
• dbSNP Id: rs1555109102
• MyVariant Identifiers: chr11:g.108178667_108178668del (hg19) ; chr11:g.108307940_108307941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307940_108307941del , CM000673.2:g.108307940_108307941del	GRCh38
NC_000011.9:g.108178667_108178668del , CM000673.1:g.108178667_108178668del	GRCh37
NC_000011.8:g.107683877_107683878del	NCBI36
NG_009830.1:g.90109_90110del , LRG_135:g.90109_90110del
NG_054724.1:g.166893_166894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5718_5719del	ENSP00000388058.2:p.Arg1907AsnfsTer22
ENST00000713593.1:c.*5189_*5190del	ENSP00000518889.1:n.*5189_*5190del
ENST00000278616.9:c.5718_5719del	ENSP00000278616.4:p.Arg1907AsnfsTer22
ENST00000525056.2:n.137_138del
ENST00000682286.1:n.475_476del
ENST00000682302.1:n.136_137del
ENST00000683174.1:n.7202_7203del
ENST00000683524.1:n.942_943del
ENST00000684152.1:n.1432_1433del
ENST00000527805.6:c.*782_*783del	ENSP00000435747.2:n.*782_*783del
ENST00000675595.1:c.*782_*783del	ENSP00000502563.1:n.*782_*783del
ENST00000675843.1:c.5718_5719del MANE Select	ENSP00000501606.1:p.Arg1907AsnfsTer22
ENST00000278616.8:c.5718_5719del	ENSP00000278616.4:p.Arg1907AsnfsTer22
ENST00000452508.6:c.5718_5719del	ENSP00000388058.2:p.Arg1907AsnfsTer22
ENST00000524792.5:n.1933_1934del
ENST00000529588.5:c.187-2220_187-2219del
ENST00000533690.5:n.1122_1123del
NM_000051.3:c.5718_5719del , LRG_135t1:c.5718_5719del	NP_000042.3:p.Arg1907AsnfsTer22
XM_005271561.3:c.5718_5719del	XP_005271618.2:p.Arg1907AsnfsTer22
XM_005271562.3:c.5718_5719del	XP_005271619.2:p.Arg1907AsnfsTer22
XM_006718843.2:c.5718_5719del	XP_006718906.1:p.Arg1907AsnfsTer22
XM_006718845.1:c.1674_1675del	XP_006718908.1:p.Arg559AsnfsTer22
XM_011542840.1:c.5718_5719del	XP_011541142.1:p.Arg1907AsnfsTer22
XM_011542841.1:c.5718_5719del	XP_011541143.1:p.Arg1907AsnfsTer22
XM_011542842.1:c.5553_5554del	XP_011541144.1:p.Arg1852AsnfsTer22
XM_011542843.1:c.5718_5719del	XP_011541145.1:p.Arg1907AsnfsTer22
XM_011542844.1:c.4674_4675del	XP_011541146.1:p.Arg1559AsnfsTer22
XM_011542845.1:c.4410_4411del	XP_011541147.1:p.Arg1471AsnfsTer22
XM_011542847.1:c.789_790del	XP_011541149.1:p.Arg264AsnfsTer22
NM_001351834.1:c.5718_5719del	NP_001338763.1:p.Arg1907AsnfsTer22
XM_005271562.5:c.5718_5719del	XP_005271619.2:p.Arg1907AsnfsTer22
XM_006718843.4:c.5718_5719del	XP_006718906.1:p.Arg1907AsnfsTer22
XM_006718845.2:c.1674_1675del	XP_006718908.1:p.Arg559AsnfsTer22
XM_011542840.3:c.5718_5719del	XP_011541142.1:p.Arg1907AsnfsTer22
XM_011542842.3:c.5553_5554del	XP_011541144.1:p.Arg1852AsnfsTer22
XM_011542843.2:c.5718_5719del	XP_011541145.1:p.Arg1907AsnfsTer22
XM_011542844.3:c.4674_4675del	XP_011541146.1:p.Arg1559AsnfsTer22
XM_011542845.2:c.4410_4411del	XP_011541147.1:p.Arg1471AsnfsTer22
XM_017017789.2:c.5718_5719del	XP_016873278.1:p.Arg1907AsnfsTer22
XM_017017790.2:c.5718_5719del	XP_016873279.1:p.Arg1907AsnfsTer22
XM_017017791.1:c.5718_5719del	XP_016873280.1:p.Arg1907AsnfsTer22
XR_002957150.1:n.6318_6319del
NM_001351834.2:c.5718_5719del	NP_001338763.1:p.Arg1907AsnfsTer22
NM_000051.4:c.5718_5719del MANE Select	NP_000042.3:p.Arg1907AsnfsTer22