Canonical Allele Identifier: CA1998783909
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108268315_108268316delinsCT , CM000673.2:g.108268315_108268316delinsCT GRCh38
NC_000011.9:g.108139042_108139043delinsCT , CM000673.1:g.108139042_108139043delinsCT GRCh37
NC_000011.8:g.107644252_107644253delinsCT NCBI36
NG_009830.1:g.50484_50485delinsCT , LRG_135:g.50484_50485delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2639-95_2639-94delinsCT ENSP00000388058.2:n.2639-95_2639-94delinsCT
ENST00000713593.1:c.*2110-95_*2110-94delinsCT ENSP00000518889.1:n.*2110-95_*2110-94delinsCT
ENST00000278616.9:c.2639-95_2639-94delinsCT ENSP00000278616.4:n.2639-95_2639-94delinsCT
ENST00000682516.1:n.2772+973_2772+974delinsCT
ENST00000683174.1:n.2789-95_2789-94delinsCT
ENST00000684037.1:c.*1573+973_*1573+974delinsCT ENSP00000508245.1:n.*1573+973_*1573+974delinsCT
ENST00000527805.6:c.2639-95_2639-94delinsCT ENSP00000435747.2:n.2639-95_2639-94delinsCT
ENST00000675595.1:c.2474-95_2474-94delinsCT ENSP00000502563.1:n.2474-95_2474-94delinsCT
ENST00000675843.1:c.2639-95_2639-94delinsCT MANE Select ENSP00000501606.1:n.2639-95_2639-94delinsCT
ENST00000278616.8:c.2639-95_2639-94delinsCT ENSP00000278616.4:n.2639-95_2639-94delinsCT
ENST00000452508.6:c.2639-95_2639-94delinsCT ENSP00000388058.2:n.2639-95_2639-94delinsCT
ENST00000527805.5:c.2639-95_2639-94delinsCT ENSP00000435747.1:n.2639-95_2639-94delinsCT
NM_000051.3:c.2639-95_2639-94delinsCT , LRG_135t1:c.2639-95_2639-94delinsCT NP_000042.3:n.2639-95_2639-94delinsCT
XM_005271561.3:c.2639-95_2639-94delinsCT XP_005271618.2:n.2639-95_2639-94delinsCT
XM_005271562.3:c.2639-95_2639-94delinsCT XP_005271619.2:n.2639-95_2639-94delinsCT
XM_006718843.2:c.2639-95_2639-94delinsCT XP_006718906.1:n.2639-95_2639-94delinsCT
XM_011542840.1:c.2639-95_2639-94delinsCT XP_011541142.1:n.2639-95_2639-94delinsCT
XM_011542841.1:c.2639-95_2639-94delinsCT XP_011541143.1:n.2639-95_2639-94delinsCT
XM_011542842.1:c.2474-95_2474-94delinsCT XP_011541144.1:n.2474-95_2474-94delinsCT
XM_011542843.1:c.2639-95_2639-94delinsCT XP_011541145.1:n.2639-95_2639-94delinsCT
XM_011542844.1:c.1595-95_1595-94delinsCT XP_011541146.1:n.1595-95_1595-94delinsCT
XM_011542845.1:c.1331-95_1331-94delinsCT XP_011541147.1:n.1331-95_1331-94delinsCT
XM_011542846.1:c.2639-95_2639-94delinsCT XP_011541148.1:n.2639-95_2639-94delinsCT
NM_001351834.1:c.2639-95_2639-94delinsCT NP_001338763.1:n.2639-95_2639-94delinsCT
XM_005271562.5:c.2639-95_2639-94delinsCT XP_005271619.2:n.2639-95_2639-94delinsCT
XM_006718843.4:c.2639-95_2639-94delinsCT XP_006718906.1:n.2639-95_2639-94delinsCT
XM_011542840.3:c.2639-95_2639-94delinsCT XP_011541142.1:n.2639-95_2639-94delinsCT
XM_011542842.3:c.2474-95_2474-94delinsCT XP_011541144.1:n.2474-95_2474-94delinsCT
XM_011542843.2:c.2639-95_2639-94delinsCT XP_011541145.1:n.2639-95_2639-94delinsCT
XM_011542844.3:c.1595-95_1595-94delinsCT XP_011541146.1:n.1595-95_1595-94delinsCT
XM_011542845.2:c.1331-95_1331-94delinsCT XP_011541147.1:n.1331-95_1331-94delinsCT
XM_017017789.2:c.2639-95_2639-94delinsCT XP_016873278.1:n.2639-95_2639-94delinsCT
XM_017017790.2:c.2639-95_2639-94delinsCT XP_016873279.1:n.2639-95_2639-94delinsCT
XM_017017791.1:c.2639-95_2639-94delinsCT XP_016873280.1:n.2639-95_2639-94delinsCT
XM_017017792.2:c.2639-95_2639-94delinsCT XP_016873281.1:n.2639-95_2639-94delinsCT
XR_002957150.1:n.3372-95_3372-94delinsCT
NM_001351834.2:c.2639-95_2639-94delinsCT NP_001338763.1:n.2639-95_2639-94delinsCT
NM_000051.4:c.2639-95_2639-94delinsCT MANE Select NP_000042.3:n.2639-95_2639-94delinsCT