Canonical Allele Identifier: CA276028

Gene: ATM

Linked Data

• ClinVar Variation Id: 208636
• ClinVar RCV Id: RCV000190639 ; RCV000213987 ; RCV004553043 ; RCV003468877
• dbSNP Id: rs797045114
• MyVariant Identifiers: chr11:g.108159705del (hg19) ; chr11:g.108288978del (hg38)
• PubMed: PMID:17376192 ; PMID:26296701

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108288978del , CM000673.2:g.108288978del	GRCh38
NC_000011.9:g.108159705del , CM000673.1:g.108159705del	GRCh37
NC_000011.8:g.107664915del	NCBI36
NG_009830.1:g.71147del , LRG_135:g.71147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4111del
ENST00000713593.1:c.*3582del
ENST00000278616.9:c.4111del
ENST00000533733.6:n.1374del
ENST00000683174.1:n.4261del
ENST00000527805.6:c.4111del
ENST00000675595.1:c.3946del
ENST00000675843.1:c.4111del
ENST00000278616.8:c.4111del
ENST00000452508.6:c.4111del
ENST00000524792.5:n.326del
ENST00000531525.2:c.118del
ENST00000533733.5:n.540del
NM_000051.3:c.4111del , LRG_135t1:c.4111del
XM_005271561.3:c.4111del
XM_005271562.3:c.4111del
XM_006718843.2:c.4111del
XM_006718845.1:c.67del
XM_011542840.1:c.4111del
XM_011542841.1:c.4111del
XM_011542842.1:c.3946del
XM_011542843.1:c.4111del
XM_011542844.1:c.3067del
XM_011542845.1:c.2803del
XM_011542846.1:c.4111del
NM_001351834.1:c.4111del
XM_005271562.5:c.4111del
XM_006718843.4:c.4111del
XM_006718845.2:c.67del
XM_011542840.3:c.4111del
XM_011542842.3:c.3946del
XM_011542843.2:c.4111del
XM_011542844.3:c.3067del
XM_011542845.2:c.2803del
XM_017017789.2:c.4111del
XM_017017790.2:c.4111del
XM_017017791.1:c.4111del
XM_017017792.2:c.4111del
XR_002957150.1:n.4844del
NM_001351834.2:c.4111del
NM_000051.4:c.4111del