Canonical Allele Identifier: CA658656280

Gene: ATM

Linked Data

• ClinVar Variation Id: 453499
• ClinVar RCV Id: RCV000560088 ; RCV002323895 ; RCV004023642
• dbSNP Id: rs1555095955
• gnomAD v4: 11-108287659-ACATGAGCCAG-A
• MyVariant Identifiers: chr11:g.108158389_108158398del (hg19) ; chr11:g.108287662_108287671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287662_108287671del , CM000673.2:g.108287662_108287671del	GRCh38
NC_000011.9:g.108158389_108158398del , CM000673.1:g.108158389_108158398del	GRCh37
NC_000011.8:g.107663599_107663608del	NCBI36
NG_009830.1:g.69831_69840del , LRG_135:g.69831_69840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4056_4065del	ENSP00000388058.2:p.His1352GlnfsTer?
ENST00000713593.1:c.*3527_*3536del	ENSP00000518889.1:n.*3527_*3536del
ENST00000278616.9:c.4056_4065del	ENSP00000278616.4:p.His1352GlnfsTer?
ENST00000533733.6:n.1319_1328del
ENST00000683174.1:n.4206_4215del
ENST00000527805.6:c.4056_4065del	ENSP00000435747.2:p.His1352GlnfsTer?
ENST00000675595.1:c.3891_3900del	ENSP00000502563.1:p.His1297GlnfsTer?
ENST00000675843.1:c.4056_4065del MANE Select	ENSP00000501606.1:p.His1352GlnfsTer?
ENST00000278616.8:c.4056_4065del	ENSP00000278616.4:p.His1352GlnfsTer?
ENST00000452508.6:c.4056_4065del	ENSP00000388058.2:p.His1352GlnfsTer?
ENST00000524792.5:n.271_280del
ENST00000527805.5:c.4056_4065del	ENSP00000435747.1:p.His1352GlnfsTer?
ENST00000531525.2:c.63_72del	ENSP00000434327.2:p.His21GlnfsTer?
ENST00000533733.5:n.485_494del
NM_000051.3:c.4056_4065del , LRG_135t1:c.4056_4065del	NP_000042.3:p.His1352GlnfsTer?
XM_005271561.3:c.4056_4065del	XP_005271618.2:p.His1352GlnfsTer?
XM_005271562.3:c.4056_4065del	XP_005271619.2:p.His1352GlnfsTer?
XM_006718843.2:c.4056_4065del	XP_006718906.1:p.His1352GlnfsTer?
XM_006718845.1:c.12_21del	XP_006718908.1:p.His4GlnfsTer?
XM_011542840.1:c.4056_4065del	XP_011541142.1:p.His1352GlnfsTer?
XM_011542841.1:c.4056_4065del	XP_011541143.1:p.His1352GlnfsTer?
XM_011542842.1:c.3891_3900del	XP_011541144.1:p.His1297GlnfsTer?
XM_011542843.1:c.4056_4065del	XP_011541145.1:p.His1352GlnfsTer?
XM_011542844.1:c.3012_3021del	XP_011541146.1:p.His1004GlnfsTer?
XM_011542845.1:c.2748_2757del	XP_011541147.1:p.His916GlnfsTer?
XM_011542846.1:c.4056_4065del	XP_011541148.1:p.His1352GlnfsTer?
NM_001351834.1:c.4056_4065del	NP_001338763.1:p.His1352GlnfsTer?
XM_005271562.5:c.4056_4065del	XP_005271619.2:p.His1352GlnfsTer?
XM_006718843.4:c.4056_4065del	XP_006718906.1:p.His1352GlnfsTer?
XM_006718845.2:c.12_21del	XP_006718908.1:p.His4GlnfsTer?
XM_011542840.3:c.4056_4065del	XP_011541142.1:p.His1352GlnfsTer?
XM_011542842.3:c.3891_3900del	XP_011541144.1:p.His1297GlnfsTer?
XM_011542843.2:c.4056_4065del	XP_011541145.1:p.His1352GlnfsTer?
XM_011542844.3:c.3012_3021del	XP_011541146.1:p.His1004GlnfsTer?
XM_011542845.2:c.2748_2757del	XP_011541147.1:p.His916GlnfsTer?
XM_017017789.2:c.4056_4065del	XP_016873278.1:p.His1352GlnfsTer?
XM_017017790.2:c.4056_4065del	XP_016873279.1:p.His1352GlnfsTer?
XM_017017791.1:c.4056_4065del	XP_016873280.1:p.His1352GlnfsTer?
XM_017017792.2:c.4056_4065del	XP_016873281.1:p.His1352GlnfsTer?
XR_002957150.1:n.4789_4798del
NM_001351834.2:c.4056_4065del	NP_001338763.1:p.His1352GlnfsTer?
NM_000051.4:c.4056_4065del MANE Select	NP_000042.3:p.His1352GlnfsTer?