Canonical Allele Identifier: CA1998795515
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287795_108287796delinsTC , CM000673.2:g.108287795_108287796delinsTC GRCh38
NC_000011.9:g.108158522_108158523delinsTC , CM000673.1:g.108158522_108158523delinsTC GRCh37
NC_000011.8:g.107663732_107663733delinsTC NCBI36
NG_009830.1:g.69964_69965delinsTC , LRG_135:g.69964_69965delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4109+80_4109+81delinsTC ENSP00000388058.2:n.4109+80_4109+81delinsTC
ENST00000713593.1:c.*3580+80_*3580+81delinsTC ENSP00000518889.1:n.*3580+80_*3580+81delinsTC
ENST00000278616.9:c.4109+80_4109+81delinsTC ENSP00000278616.4:n.4109+80_4109+81delinsTC
ENST00000533733.6:n.1372+80_1372+81delinsTC
ENST00000683174.1:n.4259+80_4259+81delinsTC
ENST00000527805.6:c.4109+80_4109+81delinsTC ENSP00000435747.2:n.4109+80_4109+81delinsTC
ENST00000675595.1:c.3944+80_3944+81delinsTC ENSP00000502563.1:n.3944+80_3944+81delinsTC
ENST00000675843.1:c.4109+80_4109+81delinsTC MANE Select ENSP00000501606.1:n.4109+80_4109+81delinsTC
ENST00000278616.8:c.4109+80_4109+81delinsTC ENSP00000278616.4:n.4109+80_4109+81delinsTC
ENST00000452508.6:c.4109+80_4109+81delinsTC ENSP00000388058.2:n.4109+80_4109+81delinsTC
ENST00000524792.5:n.324+80_324+81delinsTC
ENST00000531525.2:c.116+80_116+81delinsTC ENSP00000434327.2:n.116+80_116+81delinsTC
ENST00000533733.5:n.538+80_538+81delinsTC
NM_000051.3:c.4109+80_4109+81delinsTC , LRG_135t1:c.4109+80_4109+81delinsTC NP_000042.3:n.4109+80_4109+81delinsTC
XM_005271561.3:c.4109+80_4109+81delinsTC XP_005271618.2:n.4109+80_4109+81delinsTC
XM_005271562.3:c.4109+80_4109+81delinsTC XP_005271619.2:n.4109+80_4109+81delinsTC
XM_006718843.2:c.4109+80_4109+81delinsTC XP_006718906.1:n.4109+80_4109+81delinsTC
XM_006718845.1:c.65+80_65+81delinsTC XP_006718908.1:n.65+80_65+81delinsTC
XM_011542840.1:c.4109+80_4109+81delinsTC XP_011541142.1:n.4109+80_4109+81delinsTC
XM_011542841.1:c.4109+80_4109+81delinsTC XP_011541143.1:n.4109+80_4109+81delinsTC
XM_011542842.1:c.3944+80_3944+81delinsTC XP_011541144.1:n.3944+80_3944+81delinsTC
XM_011542843.1:c.4109+80_4109+81delinsTC XP_011541145.1:n.4109+80_4109+81delinsTC
XM_011542844.1:c.3065+80_3065+81delinsTC XP_011541146.1:n.3065+80_3065+81delinsTC
XM_011542845.1:c.2801+80_2801+81delinsTC XP_011541147.1:n.2801+80_2801+81delinsTC
XM_011542846.1:c.4109+80_4109+81delinsTC XP_011541148.1:n.4109+80_4109+81delinsTC
NM_001351834.1:c.4109+80_4109+81delinsTC NP_001338763.1:n.4109+80_4109+81delinsTC
XM_005271562.5:c.4109+80_4109+81delinsTC XP_005271619.2:n.4109+80_4109+81delinsTC
XM_006718843.4:c.4109+80_4109+81delinsTC XP_006718906.1:n.4109+80_4109+81delinsTC
XM_006718845.2:c.65+80_65+81delinsTC XP_006718908.1:n.65+80_65+81delinsTC
XM_011542840.3:c.4109+80_4109+81delinsTC XP_011541142.1:n.4109+80_4109+81delinsTC
XM_011542842.3:c.3944+80_3944+81delinsTC XP_011541144.1:n.3944+80_3944+81delinsTC
XM_011542843.2:c.4109+80_4109+81delinsTC XP_011541145.1:n.4109+80_4109+81delinsTC
XM_011542844.3:c.3065+80_3065+81delinsTC XP_011541146.1:n.3065+80_3065+81delinsTC
XM_011542845.2:c.2801+80_2801+81delinsTC XP_011541147.1:n.2801+80_2801+81delinsTC
XM_017017789.2:c.4109+80_4109+81delinsTC XP_016873278.1:n.4109+80_4109+81delinsTC
XM_017017790.2:c.4109+80_4109+81delinsTC XP_016873279.1:n.4109+80_4109+81delinsTC
XM_017017791.1:c.4109+80_4109+81delinsTC XP_016873280.1:n.4109+80_4109+81delinsTC
XM_017017792.2:c.4109+80_4109+81delinsTC XP_016873281.1:n.4109+80_4109+81delinsTC
XR_002957150.1:n.4842+80_4842+81delinsTC
NM_001351834.2:c.4109+80_4109+81delinsTC NP_001338763.1:n.4109+80_4109+81delinsTC
NM_000051.4:c.4109+80_4109+81delinsTC MANE Select NP_000042.3:n.4109+80_4109+81delinsTC