Canonical Allele Identifier: CA1998791871
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108284301_108284302delinsAG , CM000673.2:g.108284301_108284302delinsAG GRCh38
NC_000011.9:g.108155028_108155029delinsAG , CM000673.1:g.108155028_108155029delinsAG GRCh37
NC_000011.8:g.107660238_107660239delinsAG NCBI36
NG_009830.1:g.66470_66471delinsAG , LRG_135:g.66470_66471delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3821_3822delinsAG ENSP00000388058.2:p.Gln1274=
ENST00000713593.1:c.*3292_*3293delinsAG ENSP00000518889.1:n.*3292_*3293delinsAG
ENST00000278616.9:c.3821_3822delinsAG ENSP00000278616.4:p.Gln1274=
ENST00000682289.1:n.168_169delinsAG
ENST00000683174.1:n.3971_3972delinsAG
ENST00000527805.6:c.3821_3822delinsAG ENSP00000435747.2:p.Gln1274=
ENST00000675595.1:c.3656_3657delinsAG ENSP00000502563.1:p.Gln1219=
ENST00000675843.1:c.3821_3822delinsAG MANE Select ENSP00000501606.1:p.Gln1274=
ENST00000278616.8:c.3821_3822delinsAG ENSP00000278616.4:p.Gln1274=
ENST00000452508.6:c.3821_3822delinsAG ENSP00000388058.2:p.Gln1274=
ENST00000527805.5:c.3821_3822delinsAG ENSP00000435747.1:p.Gln1274=
NM_000051.3:c.3821_3822delinsAG , LRG_135t1:c.3821_3822delinsAG NP_000042.3:p.Gln1274=
XM_005271561.3:c.3821_3822delinsAG XP_005271618.2:p.Gln1274=
XM_005271562.3:c.3821_3822delinsAG XP_005271619.2:p.Gln1274=
XM_006718843.2:c.3821_3822delinsAG XP_006718906.1:p.Gln1274=
XM_011542840.1:c.3821_3822delinsAG XP_011541142.1:p.Gln1274=
XM_011542841.1:c.3821_3822delinsAG XP_011541143.1:p.Gln1274=
XM_011542842.1:c.3656_3657delinsAG XP_011541144.1:p.Gln1219=
XM_011542843.1:c.3821_3822delinsAG XP_011541145.1:p.Gln1274=
XM_011542844.1:c.2777_2778delinsAG XP_011541146.1:p.Gln926=
XM_011542845.1:c.2513_2514delinsAG XP_011541147.1:p.Gln838=
XM_011542846.1:c.3821_3822delinsAG XP_011541148.1:p.Gln1274=
NM_001351834.1:c.3821_3822delinsAG NP_001338763.1:p.Gln1274=
XM_005271562.5:c.3821_3822delinsAG XP_005271619.2:p.Gln1274=
XM_006718843.4:c.3821_3822delinsAG XP_006718906.1:p.Gln1274=
XM_011542840.3:c.3821_3822delinsAG XP_011541142.1:p.Gln1274=
XM_011542842.3:c.3656_3657delinsAG XP_011541144.1:p.Gln1219=
XM_011542843.2:c.3821_3822delinsAG XP_011541145.1:p.Gln1274=
XM_011542844.3:c.2777_2778delinsAG XP_011541146.1:p.Gln926=
XM_011542845.2:c.2513_2514delinsAG XP_011541147.1:p.Gln838=
XM_017017789.2:c.3821_3822delinsAG XP_016873278.1:p.Gln1274=
XM_017017790.2:c.3821_3822delinsAG XP_016873279.1:p.Gln1274=
XM_017017791.1:c.3821_3822delinsAG XP_016873280.1:p.Gln1274=
XM_017017792.2:c.3821_3822delinsAG XP_016873281.1:p.Gln1274=
XR_002957150.1:n.4554_4555delinsAG
NM_001351834.2:c.3821_3822delinsAG NP_001338763.1:p.Gln1274=
NM_000051.4:c.3821_3822delinsAG MANE Select NP_000042.3:p.Gln1274=