Canonical Allele Identifier: CA1998774858
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108256214_108256215delinsGA , CM000673.2:g.108256214_108256215delinsGA GRCh38
NC_000011.9:g.108126941_108126942delinsGA , CM000673.1:g.108126941_108126942delinsGA GRCh37
NC_000011.8:g.107632151_107632152delinsGA NCBI36
NG_009830.1:g.38383_38384delinsGA , LRG_135:g.38383_38384delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.2125-1_2125delinsGA
ENST00000713593.1:c.*1596-1_*1596delinsGA
ENST00000278616.9:c.2125-1_2125delinsGA
ENST00000682516.1:n.2259-1_2259delinsGA
ENST00000683174.1:n.2275-1_2275delinsGA
ENST00000683605.1:n.1620-1_1620delinsGA
ENST00000684037.1:c.*1060-1_*1060delinsGA
ENST00000684061.1:n.2259-1_2259delinsGA
ENST00000527805.6:c.2125-1_2125delinsGA
ENST00000675595.1:c.1960-1_1960delinsGA
ENST00000675843.1:c.2125-1_2125delinsGA
ENST00000278616.8:c.2125-1_2125delinsGA
ENST00000452508.6:c.2125-1_2125delinsGA
ENST00000527805.5:c.2125-1_2125delinsGA
NM_000051.3:c.2125-1_2125delinsGA , LRG_135t1:c.2125-1_2125delinsGA
XM_005271561.3:c.2125-1_2125delinsGA
XM_005271562.3:c.2125-1_2125delinsGA
XM_006718843.2:c.2125-1_2125delinsGA
XM_011542840.1:c.2125-1_2125delinsGA
XM_011542841.1:c.2125-1_2125delinsGA
XM_011542842.1:c.1960-1_1960delinsGA
XM_011542843.1:c.2125-1_2125delinsGA
XM_011542844.1:c.1081-1_1081delinsGA
XM_011542845.1:c.817-1_817delinsGA
XM_011542846.1:c.2125-1_2125delinsGA
NM_001351834.1:c.2125-1_2125delinsGA
XM_005271562.5:c.2125-1_2125delinsGA
XM_006718843.4:c.2125-1_2125delinsGA
XM_011542840.3:c.2125-1_2125delinsGA
XM_011542842.3:c.1960-1_1960delinsGA
XM_011542843.2:c.2125-1_2125delinsGA
XM_011542844.3:c.1081-1_1081delinsGA
XM_011542845.2:c.817-1_817delinsGA
XM_017017789.2:c.2125-1_2125delinsGA
XM_017017790.2:c.2125-1_2125delinsGA
XM_017017791.1:c.2125-1_2125delinsGA
XM_017017792.2:c.2125-1_2125delinsGA
XR_002957150.1:n.2858-1_2858delinsGA
NM_001351834.2:c.2125-1_2125delinsGA
NM_000051.4:c.2125-1_2125delinsGA