Canonical Allele Identifier: CA645369499

Gene: ATM

Linked Data

• ClinVar Variation Id: 429068
• ClinVar RCV Id: RCV000493230
• dbSNP Id: rs1131691153
• MyVariant Identifiers: chr11:g.108138070del (hg19) ; chr11:g.108267343del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267343del , CM000673.2:g.108267343del	GRCh38
NC_000011.9:g.108138070del , CM000673.1:g.108138070del	GRCh37
NC_000011.8:g.107643280del	NCBI36
NG_009830.1:g.49512del , LRG_135:g.49512del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2638+1del
ENST00000713593.1:c.*2109+1del
ENST00000278616.9:c.2638+1del
ENST00000682516.1:n.2772+1del
ENST00000683174.1:n.2788+1del
ENST00000683605.1:n.2134del
ENST00000684037.1:c.*1573+1del
ENST00000527805.6:c.2638+1del
ENST00000675595.1:c.2473+1del
ENST00000675843.1:c.2638+1del
ENST00000278616.8:c.2638+1del
ENST00000452508.6:c.2638+1del
ENST00000527805.5:c.2638+1del
NM_000051.3:c.2638+1del , LRG_135t1:c.2638+1del
XM_005271561.3:c.2638+1del
XM_005271562.3:c.2638+1del
XM_006718843.2:c.2638+1del
XM_011542840.1:c.2638+1del
XM_011542841.1:c.2638+1del
XM_011542842.1:c.2473+1del
XM_011542843.1:c.2638+1del
XM_011542844.1:c.1594+1del
XM_011542845.1:c.1330+1del
XM_011542846.1:c.2638+1del
NM_001351834.1:c.2638+1del
XM_005271562.5:c.2638+1del
XM_006718843.4:c.2638+1del
XM_011542840.3:c.2638+1del
XM_011542842.3:c.2473+1del
XM_011542843.2:c.2638+1del
XM_011542844.3:c.1594+1del
XM_011542845.2:c.1330+1del
XM_017017789.2:c.2638+1del
XM_017017790.2:c.2638+1del
XM_017017791.1:c.2638+1del
XM_017017792.2:c.2638+1del
XR_002957150.1:n.3371+1del
NM_001351834.2:c.2638+1del
NM_000051.4:c.2638+1del