Canonical Allele Identifier: CA913188448
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 919014
ClinVar RCV Id: RCV001176938
dbSNP Id: rs2083494233

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302835T>G , CM000673.2:g.108302835T>G GRCh38
NC_000011.9:g.108173562T>G , CM000673.1:g.108173562T>G GRCh37
NC_000011.8:g.107678772T>G NCBI36
NG_009830.1:g.85004T>G , LRG_135:g.85004T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5320-18T>G ENSP00000388058.2:n.5320-18T>G
ENST00000713593.1:c.*4791-18T>G ENSP00000518889.1:n.*4791-18T>G
ENST00000278616.9:c.5320-18T>G ENSP00000278616.4:n.5320-18T>G
ENST00000683174.1:n.6804-18T>G
ENST00000683524.1:n.544-18T>G
ENST00000684152.1:n.1034-18T>G
ENST00000527805.6:c.*384-18T>G ENSP00000435747.2:n.*384-18T>G
ENST00000675595.1:c.*384-18T>G ENSP00000502563.1:n.*384-18T>G
ENST00000675843.1:c.5320-18T>G MANE Select ENSP00000501606.1:n.5320-18T>G
ENST00000278616.8:c.5320-18T>G ENSP00000278616.4:n.5320-18T>G
ENST00000452508.6:c.5320-18T>G ENSP00000388058.2:n.5320-18T>G
ENST00000524792.5:n.1535-18T>G
ENST00000533690.5:n.724-18T>G
ENST00000534625.1:n.549-18T>G
NM_000051.3:c.5320-18T>G , LRG_135t1:c.5320-18T>G NP_000042.3:n.5320-18T>G
XM_005271561.3:c.5320-18T>G XP_005271618.2:n.5320-18T>G
XM_005271562.3:c.5320-18T>G XP_005271619.2:n.5320-18T>G
XM_006718843.2:c.5320-18T>G XP_006718906.1:n.5320-18T>G
XM_006718845.1:c.1276-18T>G XP_006718908.1:n.1276-18T>G
XM_011542840.1:c.5320-18T>G XP_011541142.1:n.5320-18T>G
XM_011542841.1:c.5320-18T>G XP_011541143.1:n.5320-18T>G
XM_011542842.1:c.5155-18T>G XP_011541144.1:n.5155-18T>G
XM_011542843.1:c.5320-18T>G XP_011541145.1:n.5320-18T>G
XM_011542844.1:c.4276-18T>G XP_011541146.1:n.4276-18T>G
XM_011542845.1:c.4012-18T>G XP_011541147.1:n.4012-18T>G
XM_011542846.1:c.5319-16T>G XP_011541148.1:n.5319-16T>G
XM_011542847.1:c.391-18T>G XP_011541149.1:n.391-18T>G
NM_001351834.1:c.5320-18T>G NP_001338763.1:n.5320-18T>G
XM_005271562.5:c.5320-18T>G XP_005271619.2:n.5320-18T>G
XM_006718843.4:c.5320-18T>G XP_006718906.1:n.5320-18T>G
XM_006718845.2:c.1276-18T>G XP_006718908.1:n.1276-18T>G
XM_011542840.3:c.5320-18T>G XP_011541142.1:n.5320-18T>G
XM_011542842.3:c.5155-18T>G XP_011541144.1:n.5155-18T>G
XM_011542843.2:c.5320-18T>G XP_011541145.1:n.5320-18T>G
XM_011542844.3:c.4276-18T>G XP_011541146.1:n.4276-18T>G
XM_011542845.2:c.4012-18T>G XP_011541147.1:n.4012-18T>G
XM_017017789.2:c.5320-18T>G XP_016873278.1:n.5320-18T>G
XM_017017790.2:c.5320-18T>G XP_016873279.1:n.5320-18T>G
XM_017017791.1:c.5320-18T>G XP_016873280.1:n.5320-18T>G
XM_017017792.2:c.*1-18T>G XP_016873281.1:n.*1-18T>G
XR_002957150.1:n.5920-18T>G
NM_001351834.2:c.5320-18T>G NP_001338763.1:n.5320-18T>G
NM_000051.4:c.5320-18T>G MANE Select NP_000042.3:n.5320-18T>G