Canonical Allele Identifier: CA2574726413
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287734del , CM000673.2:g.108287734del GRCh38
NC_000011.9:g.108158461del , CM000673.1:g.108158461del GRCh37
NC_000011.8:g.107663671del NCBI36
NG_009830.1:g.69903del , LRG_135:g.69903del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4109+19del ENSP00000388058.2:n.4109+19del
ENST00000713593.1:c.*3580+19del ENSP00000518889.1:n.*3580+19del
ENST00000278616.9:c.4109+19del ENSP00000278616.4:n.4109+19del
ENST00000533733.6:n.1372+19del
ENST00000683174.1:n.4259+19del
ENST00000527805.6:c.4109+19del ENSP00000435747.2:n.4109+19del
ENST00000675595.1:c.3944+19del ENSP00000502563.1:n.3944+19del
ENST00000675843.1:c.4109+19del MANE Select ENSP00000501606.1:n.4109+19del
ENST00000278616.8:c.4109+19del ENSP00000278616.4:n.4109+19del
ENST00000452508.6:c.4109+19del ENSP00000388058.2:n.4109+19del
ENST00000524792.5:n.324+19del
ENST00000531525.2:c.116+19del ENSP00000434327.2:n.116+19del
ENST00000533733.5:n.538+19del
NM_000051.3:c.4109+19del , LRG_135t1:c.4109+19del NP_000042.3:n.4109+19del
XM_005271561.3:c.4109+19del XP_005271618.2:n.4109+19del
XM_005271562.3:c.4109+19del XP_005271619.2:n.4109+19del
XM_006718843.2:c.4109+19del XP_006718906.1:n.4109+19del
XM_006718845.1:c.65+19del XP_006718908.1:n.65+19del
XM_011542840.1:c.4109+19del XP_011541142.1:n.4109+19del
XM_011542841.1:c.4109+19del XP_011541143.1:n.4109+19del
XM_011542842.1:c.3944+19del XP_011541144.1:n.3944+19del
XM_011542843.1:c.4109+19del XP_011541145.1:n.4109+19del
XM_011542844.1:c.3065+19del XP_011541146.1:n.3065+19del
XM_011542845.1:c.2801+19del XP_011541147.1:n.2801+19del
XM_011542846.1:c.4109+19del XP_011541148.1:n.4109+19del
NM_001351834.1:c.4109+19del NP_001338763.1:n.4109+19del
XM_005271562.5:c.4109+19del XP_005271619.2:n.4109+19del
XM_006718843.4:c.4109+19del XP_006718906.1:n.4109+19del
XM_006718845.2:c.65+19del XP_006718908.1:n.65+19del
XM_011542840.3:c.4109+19del XP_011541142.1:n.4109+19del
XM_011542842.3:c.3944+19del XP_011541144.1:n.3944+19del
XM_011542843.2:c.4109+19del XP_011541145.1:n.4109+19del
XM_011542844.3:c.3065+19del XP_011541146.1:n.3065+19del
XM_011542845.2:c.2801+19del XP_011541147.1:n.2801+19del
XM_017017789.2:c.4109+19del XP_016873278.1:n.4109+19del
XM_017017790.2:c.4109+19del XP_016873279.1:n.4109+19del
XM_017017791.1:c.4109+19del XP_016873280.1:n.4109+19del
XM_017017792.2:c.4109+19del XP_016873281.1:n.4109+19del
XR_002957150.1:n.4842+19del
NM_001351834.2:c.4109+19del NP_001338763.1:n.4109+19del
NM_000051.4:c.4109+19del MANE Select NP_000042.3:n.4109+19del