Canonical Allele Identifier: CA916079932

Gene: ATM

Linked Data

• ClinVar Variation Id: 860530
• ClinVar RCV Id: RCV001066847
• dbSNP Id: rs2081313995

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267342_108267349dup , CM000673.2:g.108267342_108267349dup	GRCh38
NC_000011.9:g.108138069_108138076dup , CM000673.1:g.108138069_108138076dup	GRCh37
NC_000011.8:g.107643279_107643286dup	NCBI36
NG_009830.1:g.49511_49518dup , LRG_135:g.49511_49518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2638_2638+7dup
ENST00000713593.1:c.*2109_*2109+7dup
ENST00000278616.9:c.2638_2638+7dup
ENST00000682516.1:n.2772_2772+7dup
ENST00000683174.1:n.2788_2788+7dup
ENST00000683605.1:n.2133_2140dup
ENST00000684037.1:c.*1573_*1573+7dup
ENST00000527805.6:c.2638_2638+7dup
ENST00000675595.1:c.2473_2473+7dup
ENST00000675843.1:c.2638_2638+7dup
ENST00000278616.8:c.2638_2638+7dup
ENST00000452508.6:c.2638_2638+7dup
ENST00000527805.5:c.2638_2638+7dup
NM_000051.3:c.2638_2638+7dup , LRG_135t1:c.2638_2638+7dup
XM_005271561.3:c.2638_2638+7dup
XM_005271562.3:c.2638_2638+7dup
XM_006718843.2:c.2638_2638+7dup
XM_011542840.1:c.2638_2638+7dup
XM_011542841.1:c.2638_2638+7dup
XM_011542842.1:c.2473_2473+7dup
XM_011542843.1:c.2638_2638+7dup
XM_011542844.1:c.1594_1594+7dup
XM_011542845.1:c.1330_1330+7dup
XM_011542846.1:c.2638_2638+7dup
NM_001351834.1:c.2638_2638+7dup
XM_005271562.5:c.2638_2638+7dup
XM_006718843.4:c.2638_2638+7dup
XM_011542840.3:c.2638_2638+7dup
XM_011542842.3:c.2473_2473+7dup
XM_011542843.2:c.2638_2638+7dup
XM_011542844.3:c.1594_1594+7dup
XM_011542845.2:c.1330_1330+7dup
XM_017017789.2:c.2638_2638+7dup
XM_017017790.2:c.2638_2638+7dup
XM_017017791.1:c.2638_2638+7dup
XM_017017792.2:c.2638_2638+7dup
XR_002957150.1:n.3371_3371+7dup
NM_001351834.2:c.2638_2638+7dup
NM_000051.4:c.2638_2638+7dup