Canonical Allele Identifier: CA915947621
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 665350
ClinVar RCV Id: RCV000823614

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108299837_108309100del , CM000673.2:g.108299837_108309100del GRCh38
NC_000011.9:g.108170564_108179827del , CM000673.1:g.108170564_108179827del GRCh37
NC_000011.8:g.107675774_107685037del NCBI36
NG_009830.1:g.82006_91269del , LRG_135:g.82006_91269del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5129_5763-1060del
ENST00000713593.1:c.*4600_*5234-1060del
ENST00000278616.9:c.5129_5763-1060del
ENST00000683174.1:n.6613_7247-1060del
ENST00000683524.1:n.353_987-1060del
ENST00000684152.1:n.843_1477-1060del
ENST00000527805.6:c.*193_*827-1060del
ENST00000675595.1:c.*193_*827-1060del
ENST00000675843.1:c.5129_5763-1060del
ENST00000278616.8:c.5129_5763-1060del
ENST00000452508.6:c.5129_5763-1060del
ENST00000524792.5:n.1344_1978-1060del
ENST00000533690.5:n.533_1167-1060del
NM_000051.3:c.5129_5763-1060del , LRG_135t1:c.5129_5763-1060del
XM_005271561.3:c.5129_5763-1060del
XM_005271562.3:c.5129_5763-1060del
XM_006718843.2:c.5129_5763-1060del
XM_006718845.1:c.1085_1719-1060del
XM_011542840.1:c.5129_5763-1060del
XM_011542841.1:c.5129_5763-1060del
XM_011542842.1:c.4964_5598-1060del
XM_011542843.1:c.5129_5763-1060del
XM_011542844.1:c.4085_4719-1060del
XM_011542845.1:c.3821_4455-1060del
XM_011542847.1:c.200_834-1060del
NM_001351834.1:c.5129_5763-1060del
XM_005271562.5:c.5129_5763-1060del
XM_006718843.4:c.5129_5763-1060del
XM_006718845.2:c.1085_1719-1060del
XM_011542840.3:c.5129_5763-1060del
XM_011542842.3:c.4964_5598-1060del
XM_011542843.2:c.5129_5763-1060del
XM_011542844.3:c.4085_4719-1060del
XM_011542845.2:c.3821_4455-1060del
XM_017017789.2:c.5129_5763-1060del
XM_017017790.2:c.5129_5763-1060del
XM_017017791.1:c.5129_5763-1060del
XR_002957150.1:n.5729_6363-1060del
NM_001351834.2:c.5129_5763-1060del
NM_000051.4:c.5129_5763-1060del