Canonical Allele Identifier: CA2825001905
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 3148594
ClinVar RCV Id: RCV004442488

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108304675del , CM000673.2:g.108304675del GRCh38
NC_000011.9:g.108175402del , CM000673.1:g.108175402del GRCh37
NC_000011.8:g.107680612del NCBI36
NG_009830.1:g.86844del , LRG_135:g.86844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5497del
ENST00000713593.1:c.*4968del
ENST00000278616.9:c.5497del
ENST00000683174.1:n.6981del
ENST00000683524.1:n.721del
ENST00000684152.1:n.1211del
ENST00000527805.6:c.*561del
ENST00000675595.1:c.*561del
ENST00000675843.1:c.5497del
ENST00000278616.8:c.5497del
ENST00000452508.6:c.5497del
ENST00000524792.5:n.1712del
ENST00000529588.5:c.9del
ENST00000533690.5:n.901del
NM_000051.3:c.5497del , LRG_135t1:c.5497del
XM_005271561.3:c.5497del
XM_005271562.3:c.5497del
XM_006718843.2:c.5497del
XM_006718845.1:c.1453del
XM_011542840.1:c.5497del
XM_011542841.1:c.5497del
XM_011542842.1:c.5332del
XM_011542843.1:c.5497del
XM_011542844.1:c.4453del
XM_011542845.1:c.4189del
XM_011542847.1:c.568del
NM_001351834.1:c.5497del
XM_005271562.5:c.5497del
XM_006718843.4:c.5497del
XM_006718845.2:c.1453del
XM_011542840.3:c.5497del
XM_011542842.3:c.5332del
XM_011542843.2:c.5497del
XM_011542844.3:c.4453del
XM_011542845.2:c.4189del
XM_017017789.2:c.5497del
XM_017017790.2:c.5497del
XM_017017791.1:c.5497del
XR_002957150.1:n.6097del
NM_001351834.2:c.5497del
NM_000051.4:c.5497del