Canonical Allele Identifier: CA891842960

Gene: ATM

Linked Data

• ClinVar Variation Id: 584462
• ClinVar RCV Id: RCV000708601 ; RCV003465642
• dbSNP Id: rs1565420196

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268600_108268625delinsA , CM000673.2:g.108268600_108268625delinsA	GRCh38
NC_000011.9:g.108139327_108139352delinsA , CM000673.1:g.108139327_108139352delinsA	GRCh37
NC_000011.8:g.107644537_107644562delinsA	NCBI36
NG_009830.1:g.50769_50794delinsA , LRG_135:g.50769_50794delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2829_2838+16delinsA
ENST00000713593.1:c.*2300_*2309+16delinsA
ENST00000278616.9:c.2829_2838+16delinsA
ENST00000682516.1:n.2772+1258_2772+1283delinsA
ENST00000683174.1:n.2979_2988+16delinsA
ENST00000684037.1:c.*1573+1258_*1573+1283delinsA	ENSP00000508245.1:n.*1573+1258_*1573+1283delinsA
ENST00000527805.6:c.2829_2838+16delinsA
ENST00000675595.1:c.2664_2673+16delinsA
ENST00000675843.1:c.2829_2838+16delinsA
ENST00000278616.8:c.2829_2838+16delinsA
ENST00000419286.2:n.191_200+16delinsA
ENST00000452508.6:c.2829_2838+16delinsA
ENST00000527805.5:c.2829_2838+16delinsA
NM_000051.3:c.2829_2838+16delinsA , LRG_135t1:c.2829_2838+16delinsA
XM_005271561.3:c.2829_2838+16delinsA
XM_005271562.3:c.2829_2838+16delinsA
XM_006718843.2:c.2829_2838+16delinsA
XM_011542840.1:c.2829_2838+16delinsA
XM_011542841.1:c.2829_2838+16delinsA
XM_011542842.1:c.2664_2673+16delinsA
XM_011542843.1:c.2829_2838+16delinsA
XM_011542844.1:c.1785_1794+16delinsA
XM_011542845.1:c.1521_1530+16delinsA
XM_011542846.1:c.2829_2838+16delinsA
NM_001351834.1:c.2829_2838+16delinsA
XM_005271562.5:c.2829_2838+16delinsA
XM_006718843.4:c.2829_2838+16delinsA
XM_011542840.3:c.2829_2838+16delinsA
XM_011542842.3:c.2664_2673+16delinsA
XM_011542843.2:c.2829_2838+16delinsA
XM_011542844.3:c.1785_1794+16delinsA
XM_011542845.2:c.1521_1530+16delinsA
XM_017017789.2:c.2829_2838+16delinsA
XM_017017790.2:c.2829_2838+16delinsA
XM_017017791.1:c.2829_2838+16delinsA
XM_017017792.2:c.2829_2838+16delinsA
XR_002957150.1:n.3562_3571+16delinsA
NM_001351834.2:c.2829_2838+16delinsA
NM_000051.4:c.2829_2838+16delinsA