Canonical Allele Identifier: CA658797734

Gene: ATM

Linked Data

• ClinVar Variation Id: 524255
• ClinVar RCV Id: RCV000627891
• dbSNP Id: rs1555104529
• MyVariant Identifiers: chr11:g.108170463_108170471del (hg19) ; chr11:g.108299736_108299744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299736_108299744del , CM000673.2:g.108299736_108299744del	GRCh38
NC_000011.9:g.108170463_108170471del , CM000673.1:g.108170463_108170471del	GRCh37
NC_000011.8:g.107675673_107675681del	NCBI36
NG_009830.1:g.81905_81913del , LRG_135:g.81905_81913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5028_5036del	ENSP00000388058.2:p.Glu1677_Gly1679del
ENST00000713593.1:c.*4499_*4507del	ENSP00000518889.1:n.*4499_*4507del
ENST00000278616.9:c.5028_5036del	ENSP00000278616.4:p.Glu1677_Gly1679del
ENST00000683174.1:n.6512_6520del
ENST00000683524.1:n.252_260del
ENST00000684152.1:n.742_750del
ENST00000527805.6:c.*92_*100del	ENSP00000435747.2:n.*92_*100del
ENST00000675595.1:c.*92_*100del	ENSP00000502563.1:n.*92_*100del
ENST00000675843.1:c.5028_5036del MANE Select	ENSP00000501606.1:p.Glu1677_Gly1679del
ENST00000278616.8:c.5028_5036del	ENSP00000278616.4:p.Glu1677_Gly1679del
ENST00000452508.6:c.5028_5036del	ENSP00000388058.2:p.Glu1677_Gly1679del
ENST00000524792.5:n.1243_1251del
ENST00000533690.5:n.432_440del
ENST00000534625.1:n.257_265del
NM_000051.3:c.5028_5036del , LRG_135t1:c.5028_5036del	NP_000042.3:p.Glu1677_Gly1679del
XM_005271561.3:c.5028_5036del	XP_005271618.2:p.Glu1677_Gly1679del
XM_005271562.3:c.5028_5036del	XP_005271619.2:p.Glu1677_Gly1679del
XM_006718843.2:c.5028_5036del	XP_006718906.1:p.Glu1677_Gly1679del
XM_006718845.1:c.984_992del	XP_006718908.1:p.Glu329_Gly331del
XM_011542840.1:c.5028_5036del	XP_011541142.1:p.Glu1677_Gly1679del
XM_011542841.1:c.5028_5036del	XP_011541143.1:p.Glu1677_Gly1679del
XM_011542842.1:c.4863_4871del	XP_011541144.1:p.Glu1622_Gly1624del
XM_011542843.1:c.5028_5036del	XP_011541145.1:p.Glu1677_Gly1679del
XM_011542844.1:c.3984_3992del	XP_011541146.1:p.Glu1329_Gly1331del
XM_011542845.1:c.3720_3728del	XP_011541147.1:p.Glu1241_Gly1243del
XM_011542846.1:c.5028_5036del	XP_011541148.1:p.Glu1677_Gly1679del
XM_011542847.1:c.99_107del	XP_011541149.1:p.Glu34_Gly36del
NM_001351834.1:c.5028_5036del	NP_001338763.1:p.Glu1677_Gly1679del
XM_005271562.5:c.5028_5036del	XP_005271619.2:p.Glu1677_Gly1679del
XM_006718843.4:c.5028_5036del	XP_006718906.1:p.Glu1677_Gly1679del
XM_006718845.2:c.984_992del	XP_006718908.1:p.Glu329_Gly331del
XM_011542840.3:c.5028_5036del	XP_011541142.1:p.Glu1677_Gly1679del
XM_011542842.3:c.4863_4871del	XP_011541144.1:p.Glu1622_Gly1624del
XM_011542843.2:c.5028_5036del	XP_011541145.1:p.Glu1677_Gly1679del
XM_011542844.3:c.3984_3992del	XP_011541146.1:p.Glu1329_Gly1331del
XM_011542845.2:c.3720_3728del	XP_011541147.1:p.Glu1241_Gly1243del
XM_017017789.2:c.5028_5036del	XP_016873278.1:p.Glu1677_Gly1679del
XM_017017790.2:c.5028_5036del	XP_016873279.1:p.Glu1677_Gly1679del
XM_017017791.1:c.5028_5036del	XP_016873280.1:p.Glu1677_Gly1679del
XM_017017792.2:c.5028_5036del	XP_016873281.1:p.Glu1677_Gly1679del
XR_002957150.1:n.5628_5636del
NM_001351834.2:c.5028_5036del	NP_001338763.1:p.Glu1677_Gly1679del
NM_000051.4:c.5028_5036del MANE Select	NP_000042.3:p.Glu1677_Gly1679del