Canonical Allele Identifier: CA16613363

Gene: ATM

Linked Data

• ClinVar Variation Id: 407562
• ClinVar RCV Id: RCV000463540
• dbSNP Id: rs1064792940
• MyVariant Identifiers: chr11:g.108126927_108126945del (hg19) ; chr11:g.108256200_108256218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256200_108256218del , CM000673.2:g.108256200_108256218del	GRCh38
NC_000011.9:g.108126927_108126945del , CM000673.1:g.108126927_108126945del	GRCh37
NC_000011.8:g.107632137_107632155del	NCBI36
NG_009830.1:g.38369_38387del , LRG_135:g.38369_38387del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2125-15_2128del
ENST00000713593.1:c.*1596-15_*1599del
ENST00000278616.9:c.2125-15_2128del
ENST00000682516.1:n.2259-15_2262del
ENST00000683174.1:n.2275-15_2278del
ENST00000683605.1:n.1620-15_1623del
ENST00000684037.1:c.*1060-15_*1063del
ENST00000684061.1:n.2259-15_2262del
ENST00000527805.6:c.2125-15_2128del
ENST00000675595.1:c.1960-15_1963del
ENST00000675843.1:c.2125-15_2128del
ENST00000278616.8:c.2125-15_2128del
ENST00000452508.6:c.2125-15_2128del
ENST00000527805.5:c.2125-15_2128del
NM_000051.3:c.2125-15_2128del , LRG_135t1:c.2125-15_2128del
XM_005271561.3:c.2125-15_2128del
XM_005271562.3:c.2125-15_2128del
XM_006718843.2:c.2125-15_2128del
XM_011542840.1:c.2125-15_2128del
XM_011542841.1:c.2125-15_2128del
XM_011542842.1:c.1960-15_1963del
XM_011542843.1:c.2125-15_2128del
XM_011542844.1:c.1081-15_1084del
XM_011542845.1:c.817-15_820del
XM_011542846.1:c.2125-15_2128del
NM_001351834.1:c.2125-15_2128del
XM_005271562.5:c.2125-15_2128del
XM_006718843.4:c.2125-15_2128del
XM_011542840.3:c.2125-15_2128del
XM_011542842.3:c.1960-15_1963del
XM_011542843.2:c.2125-15_2128del
XM_011542844.3:c.1081-15_1084del
XM_011542845.2:c.817-15_820del
XM_017017789.2:c.2125-15_2128del
XM_017017790.2:c.2125-15_2128del
XM_017017791.1:c.2125-15_2128del
XM_017017792.2:c.2125-15_2128del
XR_002957150.1:n.2858-15_2861del
NM_001351834.2:c.2125-15_2128del
NM_000051.4:c.2125-15_2128del