Canonical Allele Identifier: CA1998783942
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108268379_108268381delinsCTT , CM000673.2:g.108268379_108268381delinsCTT GRCh38
NC_000011.9:g.108139106_108139108delinsCTT , CM000673.1:g.108139106_108139108delinsCTT GRCh37
NC_000011.8:g.107644316_107644318delinsCTT NCBI36
NG_009830.1:g.50548_50550delinsCTT , LRG_135:g.50548_50550delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2639-31_2639-29delinsCTT ENSP00000388058.2:n.2639-31_2639-29delinsCTT
ENST00000713593.1:c.*2110-31_*2110-29delinsCTT ENSP00000518889.1:n.*2110-31_*2110-29delinsCTT
ENST00000278616.9:c.2639-31_2639-29delinsCTT ENSP00000278616.4:n.2639-31_2639-29delinsCTT
ENST00000682516.1:n.2772+1037_2772+1039delinsCTT
ENST00000683174.1:n.2789-31_2789-29delinsCTT
ENST00000684037.1:c.*1573+1037_*1573+1039delinsCTT ENSP00000508245.1:n.*1573+1037_*1573+1039delinsCTT
ENST00000527805.6:c.2639-31_2639-29delinsCTT ENSP00000435747.2:n.2639-31_2639-29delinsCTT
ENST00000675595.1:c.2474-31_2474-29delinsCTT ENSP00000502563.1:n.2474-31_2474-29delinsCTT
ENST00000675843.1:c.2639-31_2639-29delinsCTT MANE Select ENSP00000501606.1:n.2639-31_2639-29delinsCTT
ENST00000278616.8:c.2639-31_2639-29delinsCTT ENSP00000278616.4:n.2639-31_2639-29delinsCTT
ENST00000452508.6:c.2639-31_2639-29delinsCTT ENSP00000388058.2:n.2639-31_2639-29delinsCTT
ENST00000527805.5:c.2639-31_2639-29delinsCTT ENSP00000435747.1:n.2639-31_2639-29delinsCTT
NM_000051.3:c.2639-31_2639-29delinsCTT , LRG_135t1:c.2639-31_2639-29delinsCTT NP_000042.3:n.2639-31_2639-29delinsCTT
XM_005271561.3:c.2639-31_2639-29delinsCTT XP_005271618.2:n.2639-31_2639-29delinsCTT
XM_005271562.3:c.2639-31_2639-29delinsCTT XP_005271619.2:n.2639-31_2639-29delinsCTT
XM_006718843.2:c.2639-31_2639-29delinsCTT XP_006718906.1:n.2639-31_2639-29delinsCTT
XM_011542840.1:c.2639-31_2639-29delinsCTT XP_011541142.1:n.2639-31_2639-29delinsCTT
XM_011542841.1:c.2639-31_2639-29delinsCTT XP_011541143.1:n.2639-31_2639-29delinsCTT
XM_011542842.1:c.2474-31_2474-29delinsCTT XP_011541144.1:n.2474-31_2474-29delinsCTT
XM_011542843.1:c.2639-31_2639-29delinsCTT XP_011541145.1:n.2639-31_2639-29delinsCTT
XM_011542844.1:c.1595-31_1595-29delinsCTT XP_011541146.1:n.1595-31_1595-29delinsCTT
XM_011542845.1:c.1331-31_1331-29delinsCTT XP_011541147.1:n.1331-31_1331-29delinsCTT
XM_011542846.1:c.2639-31_2639-29delinsCTT XP_011541148.1:n.2639-31_2639-29delinsCTT
NM_001351834.1:c.2639-31_2639-29delinsCTT NP_001338763.1:n.2639-31_2639-29delinsCTT
XM_005271562.5:c.2639-31_2639-29delinsCTT XP_005271619.2:n.2639-31_2639-29delinsCTT
XM_006718843.4:c.2639-31_2639-29delinsCTT XP_006718906.1:n.2639-31_2639-29delinsCTT
XM_011542840.3:c.2639-31_2639-29delinsCTT XP_011541142.1:n.2639-31_2639-29delinsCTT
XM_011542842.3:c.2474-31_2474-29delinsCTT XP_011541144.1:n.2474-31_2474-29delinsCTT
XM_011542843.2:c.2639-31_2639-29delinsCTT XP_011541145.1:n.2639-31_2639-29delinsCTT
XM_011542844.3:c.1595-31_1595-29delinsCTT XP_011541146.1:n.1595-31_1595-29delinsCTT
XM_011542845.2:c.1331-31_1331-29delinsCTT XP_011541147.1:n.1331-31_1331-29delinsCTT
XM_017017789.2:c.2639-31_2639-29delinsCTT XP_016873278.1:n.2639-31_2639-29delinsCTT
XM_017017790.2:c.2639-31_2639-29delinsCTT XP_016873279.1:n.2639-31_2639-29delinsCTT
XM_017017791.1:c.2639-31_2639-29delinsCTT XP_016873280.1:n.2639-31_2639-29delinsCTT
XM_017017792.2:c.2639-31_2639-29delinsCTT XP_016873281.1:n.2639-31_2639-29delinsCTT
XR_002957150.1:n.3372-31_3372-29delinsCTT
NM_001351834.2:c.2639-31_2639-29delinsCTT NP_001338763.1:n.2639-31_2639-29delinsCTT
NM_000051.4:c.2639-31_2639-29delinsCTT MANE Select NP_000042.3:n.2639-31_2639-29delinsCTT