Canonical Allele Identifier: CA1998799745
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302890T= , CM000673.2:g.108302890T= GRCh38
NC_000011.9:g.108173617T= , CM000673.1:g.108173617T= GRCh37
NC_000011.8:g.107678827T= NCBI36
NG_009830.1:g.85059T= , LRG_135:g.85059T=

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5357T= ENSP00000388058.2:p.Phe1786=
ENST00000713593.1:c.*4828T= ENSP00000518889.1:n.*4828T=
ENST00000278616.9:c.5357T= ENSP00000278616.4:p.Phe1786=
ENST00000683174.1:n.6841T=
ENST00000683524.1:n.581T=
ENST00000684152.1:n.1071T=
ENST00000527805.6:c.*421T= ENSP00000435747.2:n.*421T=
ENST00000675595.1:c.*421T= ENSP00000502563.1:n.*421T=
ENST00000675843.1:c.5357T= MANE Select ENSP00000501606.1:p.Phe1786=
ENST00000278616.8:c.5357T= ENSP00000278616.4:p.Phe1786=
ENST00000452508.6:c.5357T= ENSP00000388058.2:p.Phe1786=
ENST00000524792.5:n.1572T=
ENST00000533690.5:n.761T=
ENST00000534625.1:n.586T=
NM_000051.3:c.5357T= , LRG_135t1:c.5357T= NP_000042.3:p.Phe1786=
XM_005271561.3:c.5357T= XP_005271618.2:p.Phe1786=
XM_005271562.3:c.5357T= XP_005271619.2:p.Phe1786=
XM_006718843.2:c.5357T= XP_006718906.1:p.Phe1786=
XM_006718845.1:c.1313T= XP_006718908.1:p.Phe438=
XM_011542840.1:c.5357T= XP_011541142.1:p.Phe1786=
XM_011542841.1:c.5357T= XP_011541143.1:p.Phe1786=
XM_011542842.1:c.5192T= XP_011541144.1:p.Phe1731=
XM_011542843.1:c.5357T= XP_011541145.1:p.Phe1786=
XM_011542844.1:c.4313T= XP_011541146.1:p.Phe1438=
XM_011542845.1:c.4049T= XP_011541147.1:p.Phe1350=
XM_011542846.1:c.*15T= XP_011541148.1:n.*15T=
XM_011542847.1:c.428T= XP_011541149.1:p.Phe143=
NM_001351834.1:c.5357T= NP_001338763.1:p.Phe1786=
XM_005271562.5:c.5357T= XP_005271619.2:p.Phe1786=
XM_006718843.4:c.5357T= XP_006718906.1:p.Phe1786=
XM_006718845.2:c.1313T= XP_006718908.1:p.Phe438=
XM_011542840.3:c.5357T= XP_011541142.1:p.Phe1786=
XM_011542842.3:c.5192T= XP_011541144.1:p.Phe1731=
XM_011542843.2:c.5357T= XP_011541145.1:p.Phe1786=
XM_011542844.3:c.4313T= XP_011541146.1:p.Phe1438=
XM_011542845.2:c.4049T= XP_011541147.1:p.Phe1350=
XM_017017789.2:c.5357T= XP_016873278.1:p.Phe1786=
XM_017017790.2:c.5357T= XP_016873279.1:p.Phe1786=
XM_017017791.1:c.5357T= XP_016873280.1:p.Phe1786=
XM_017017792.2:c.*38T= XP_016873281.1:n.*38T=
XR_002957150.1:n.5957T=
NM_001351834.2:c.5357T= NP_001338763.1:p.Phe1786=
NM_000051.4:c.5357T= MANE Select NP_000042.3:p.Phe1786=