Canonical Allele Identifier: CA1998758182
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223198G= , CM000673.2:g.108223198G= GRCh38
NC_000011.9:g.108093925G= , CM000673.1:g.108093925G= GRCh37
NC_000011.8:g.107599135G= NCBI36
NG_009830.1:g.5367G= , LRG_135:g.5367G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-119+12G= ENSP00000388058.2:n.-119+12G=
ENST00000683914.2:c.-31+12G= ENSP00000507649.1:n.-31+12G=
ENST00000713593.1:c.-31+12G= ENSP00000518889.1:n.-31+12G=
ENST00000683150.1:c.-182+12G= ENSP00000507125.1:n.-182+12G=
ENST00000683174.1:n.120+12G=
ENST00000683468.1:c.-4427G= ENSP00000508178.1:n.-4427G=
ENST00000683488.1:n.155G=
ENST00000683914.1:c.-31+12G= ENSP00000507649.1:n.-31+12G=
ENST00000527805.6:c.-31+12G= ENSP00000435747.2:n.-31+12G=
ENST00000639240.1:c.-115+12G= ENSP00000491585.1:n.-115+12G=
ENST00000639953.1:c.-203+12G= ENSP00000492487.1:n.-203+12G=
ENST00000640388.1:c.-193+12G= ENSP00000492354.1:n.-193+12G=
ENST00000675595.1:c.-31+12G= ENSP00000502563.1:n.-31+12G=
ENST00000675843.1:c.-31+12G= MANE Select ENSP00000501606.1:n.-31+12G=
ENST00000278616.8:c.-31+12G= ENSP00000278616.4:n.-31+12G=
ENST00000452508.6:c.-119+12G= ENSP00000388058.2:n.-119+12G=
ENST00000527805.5:c.-31+12G= ENSP00000435747.1:n.-31+12G=
ENST00000527891.5:c.-31+12G= ENSP00000433955.1:n.-31+12G=
ENST00000530958.5:c.-4427G= ENSP00000483338.1:n.-4427G=
ENST00000532931.5:c.-105+12G= ENSP00000432318.1:n.-105+12G=
NM_000051.3:c.-31+12G= , LRG_135t1:c.-31+12G= NP_000042.3:n.-31+12G=
XM_005271561.3:c.-119+12G= XP_005271618.2:n.-119+12G=
XM_011542841.1:c.-822+12G= XP_011541143.1:n.-822+12G=
XM_011542842.1:c.-31+12G= XP_011541144.1:n.-31+12G=
XM_011542843.1:c.-31+12G= XP_011541145.1:n.-31+12G=
XM_011542846.1:c.-31+12G= XP_011541148.1:n.-31+12G=
NM_001351834.1:c.-119+12G= NP_001338763.1:n.-119+12G=
NM_001351835.1:c.-31+12G= NP_001338764.1:n.-31+12G=
XM_005271562.5:c.-519G= XP_005271619.2:n.-519G=
XM_011542842.3:c.-31+12G= XP_011541144.1:n.-31+12G=
XM_011542843.2:c.-31+12G= XP_011541145.1:n.-31+12G=
XM_011542844.3:c.-1053+12G= XP_011541146.1:n.-1053+12G=
XM_017017791.1:c.-31+12G= XP_016873280.1:n.-31+12G=
XM_017017792.2:c.-31+12G= XP_016873281.1:n.-31+12G=
XR_002957150.1:n.703+12G=
NM_001351834.2:c.-119+12G= NP_001338763.1:n.-119+12G=
NM_000051.4:c.-31+12G= MANE Select NP_000042.3:n.-31+12G=
NM_001351835.2:c.-31+12G= NP_001338764.1:n.-31+12G=