Canonical Allele Identifier: CA1998783855
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108268208_108268210delinsCAT , CM000673.2:g.108268208_108268210delinsCAT GRCh38
NC_000011.9:g.108138935_108138937delinsCAT , CM000673.1:g.108138935_108138937delinsCAT GRCh37
NC_000011.8:g.107644145_107644147delinsCAT NCBI36
NG_009830.1:g.50377_50379delinsCAT , LRG_135:g.50377_50379delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2639-202_2639-200delinsCAT ENSP00000388058.2:n.2639-202_2639-200delinsCAT
ENST00000713593.1:c.*2110-202_*2110-200delinsCAT ENSP00000518889.1:n.*2110-202_*2110-200delinsCAT
ENST00000278616.9:c.2639-202_2639-200delinsCAT ENSP00000278616.4:n.2639-202_2639-200delinsCAT
ENST00000682516.1:n.2772+866_2772+868delinsCAT
ENST00000683174.1:n.2789-202_2789-200delinsCAT
ENST00000684037.1:c.*1573+866_*1573+868delinsCAT ENSP00000508245.1:n.*1573+866_*1573+868delinsCAT
ENST00000527805.6:c.2639-202_2639-200delinsCAT ENSP00000435747.2:n.2639-202_2639-200delinsCAT
ENST00000675595.1:c.2474-202_2474-200delinsCAT ENSP00000502563.1:n.2474-202_2474-200delinsCAT
ENST00000675843.1:c.2639-202_2639-200delinsCAT MANE Select ENSP00000501606.1:n.2639-202_2639-200delinsCAT
ENST00000278616.8:c.2639-202_2639-200delinsCAT ENSP00000278616.4:n.2639-202_2639-200delinsCAT
ENST00000452508.6:c.2639-202_2639-200delinsCAT ENSP00000388058.2:n.2639-202_2639-200delinsCAT
ENST00000527805.5:c.2639-202_2639-200delinsCAT ENSP00000435747.1:n.2639-202_2639-200delinsCAT
NM_000051.3:c.2639-202_2639-200delinsCAT , LRG_135t1:c.2639-202_2639-200delinsCAT NP_000042.3:n.2639-202_2639-200delinsCAT
XM_005271561.3:c.2639-202_2639-200delinsCAT XP_005271618.2:n.2639-202_2639-200delinsCAT
XM_005271562.3:c.2639-202_2639-200delinsCAT XP_005271619.2:n.2639-202_2639-200delinsCAT
XM_006718843.2:c.2639-202_2639-200delinsCAT XP_006718906.1:n.2639-202_2639-200delinsCAT
XM_011542840.1:c.2639-202_2639-200delinsCAT XP_011541142.1:n.2639-202_2639-200delinsCAT
XM_011542841.1:c.2639-202_2639-200delinsCAT XP_011541143.1:n.2639-202_2639-200delinsCAT
XM_011542842.1:c.2474-202_2474-200delinsCAT XP_011541144.1:n.2474-202_2474-200delinsCAT
XM_011542843.1:c.2639-202_2639-200delinsCAT XP_011541145.1:n.2639-202_2639-200delinsCAT
XM_011542844.1:c.1595-202_1595-200delinsCAT XP_011541146.1:n.1595-202_1595-200delinsCAT
XM_011542845.1:c.1331-202_1331-200delinsCAT XP_011541147.1:n.1331-202_1331-200delinsCAT
XM_011542846.1:c.2639-202_2639-200delinsCAT XP_011541148.1:n.2639-202_2639-200delinsCAT
NM_001351834.1:c.2639-202_2639-200delinsCAT NP_001338763.1:n.2639-202_2639-200delinsCAT
XM_005271562.5:c.2639-202_2639-200delinsCAT XP_005271619.2:n.2639-202_2639-200delinsCAT
XM_006718843.4:c.2639-202_2639-200delinsCAT XP_006718906.1:n.2639-202_2639-200delinsCAT
XM_011542840.3:c.2639-202_2639-200delinsCAT XP_011541142.1:n.2639-202_2639-200delinsCAT
XM_011542842.3:c.2474-202_2474-200delinsCAT XP_011541144.1:n.2474-202_2474-200delinsCAT
XM_011542843.2:c.2639-202_2639-200delinsCAT XP_011541145.1:n.2639-202_2639-200delinsCAT
XM_011542844.3:c.1595-202_1595-200delinsCAT XP_011541146.1:n.1595-202_1595-200delinsCAT
XM_011542845.2:c.1331-202_1331-200delinsCAT XP_011541147.1:n.1331-202_1331-200delinsCAT
XM_017017789.2:c.2639-202_2639-200delinsCAT XP_016873278.1:n.2639-202_2639-200delinsCAT
XM_017017790.2:c.2639-202_2639-200delinsCAT XP_016873279.1:n.2639-202_2639-200delinsCAT
XM_017017791.1:c.2639-202_2639-200delinsCAT XP_016873280.1:n.2639-202_2639-200delinsCAT
XM_017017792.2:c.2639-202_2639-200delinsCAT XP_016873281.1:n.2639-202_2639-200delinsCAT
XR_002957150.1:n.3372-202_3372-200delinsCAT
NM_001351834.2:c.2639-202_2639-200delinsCAT NP_001338763.1:n.2639-202_2639-200delinsCAT
NM_000051.4:c.2639-202_2639-200delinsCAT MANE Select NP_000042.3:n.2639-202_2639-200delinsCAT