Canonical Allele Identifier: CA1998799593
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302852_108302853delinsGT , CM000673.2:g.108302852_108302853delinsGT GRCh38
NC_000011.9:g.108173579_108173580delinsGT , CM000673.1:g.108173579_108173580delinsGT GRCh37
NC_000011.8:g.107678789_107678790delinsGT NCBI36
NG_009830.1:g.85021_85022delinsGT , LRG_135:g.85021_85022delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5320-1_5320delinsGT
ENST00000713593.1:c.*4791-1_*4791delinsGT
ENST00000278616.9:c.5320-1_5320delinsGT
ENST00000683174.1:n.6804-1_6804delinsGT
ENST00000683524.1:n.544-1_544delinsGT
ENST00000684152.1:n.1034-1_1034delinsGT
ENST00000527805.6:c.*384-1_*384delinsGT
ENST00000675595.1:c.*384-1_*384delinsGT
ENST00000675843.1:c.5320-1_5320delinsGT
ENST00000278616.8:c.5320-1_5320delinsGT
ENST00000452508.6:c.5320-1_5320delinsGT
ENST00000524792.5:n.1535-1_1535delinsGT
ENST00000533690.5:n.724-1_724delinsGT
ENST00000534625.1:n.549-1_549delinsGT
NM_000051.3:c.5320-1_5320delinsGT , LRG_135t1:c.5320-1_5320delinsGT
XM_005271561.3:c.5320-1_5320delinsGT
XM_005271562.3:c.5320-1_5320delinsGT
XM_006718843.2:c.5320-1_5320delinsGT
XM_006718845.1:c.1276-1_1276delinsGT
XM_011542840.1:c.5320-1_5320delinsGT
XM_011542841.1:c.5320-1_5320delinsGT
XM_011542842.1:c.5155-1_5155delinsGT
XM_011542843.1:c.5320-1_5320delinsGT
XM_011542844.1:c.4276-1_4276delinsGT
XM_011542845.1:c.4012-1_4012delinsGT
XM_011542846.1:c.5320_5321delinsGT XP_011541148.1:p.Val1774=
XM_011542847.1:c.391-1_391delinsGT
NM_001351834.1:c.5320-1_5320delinsGT
XM_005271562.5:c.5320-1_5320delinsGT
XM_006718843.4:c.5320-1_5320delinsGT
XM_006718845.2:c.1276-1_1276delinsGT
XM_011542840.3:c.5320-1_5320delinsGT
XM_011542842.3:c.5155-1_5155delinsGT
XM_011542843.2:c.5320-1_5320delinsGT
XM_011542844.3:c.4276-1_4276delinsGT
XM_011542845.2:c.4012-1_4012delinsGT
XM_017017789.2:c.5320-1_5320delinsGT
XM_017017790.2:c.5320-1_5320delinsGT
XM_017017791.1:c.5320-1_5320delinsGT
XM_017017792.2:c.*1-1_*1delinsGT
XR_002957150.1:n.5920-1_5920delinsGT
NM_001351834.2:c.5320-1_5320delinsGT
NM_000051.4:c.5320-1_5320delinsGT