Canonical Allele Identifier: CA1998783952
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108268386_108268389delinsTTAA , CM000673.2:g.108268386_108268389delinsTTAA GRCh38
NC_000011.9:g.108139113_108139116delinsTTAA , CM000673.1:g.108139113_108139116delinsTTAA GRCh37
NC_000011.8:g.107644323_107644326delinsTTAA NCBI36
NG_009830.1:g.50555_50558delinsTTAA , LRG_135:g.50555_50558delinsTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2639-24_2639-21delinsTTAA ENSP00000388058.2:n.2639-24_2639-21delinsTTAA
ENST00000713593.1:c.*2110-24_*2110-21delinsTTAA ENSP00000518889.1:n.*2110-24_*2110-21delinsTTAA
ENST00000278616.9:c.2639-24_2639-21delinsTTAA ENSP00000278616.4:n.2639-24_2639-21delinsTTAA
ENST00000682516.1:n.2772+1044_2772+1047delinsTTAA
ENST00000683174.1:n.2789-24_2789-21delinsTTAA
ENST00000684037.1:c.*1573+1044_*1573+1047delinsTTAA ENSP00000508245.1:n.*1573+1044_*1573+1047delinsTTAA
ENST00000527805.6:c.2639-24_2639-21delinsTTAA ENSP00000435747.2:n.2639-24_2639-21delinsTTAA
ENST00000675595.1:c.2474-24_2474-21delinsTTAA ENSP00000502563.1:n.2474-24_2474-21delinsTTAA
ENST00000675843.1:c.2639-24_2639-21delinsTTAA MANE Select ENSP00000501606.1:n.2639-24_2639-21delinsTTAA
ENST00000278616.8:c.2639-24_2639-21delinsTTAA ENSP00000278616.4:n.2639-24_2639-21delinsTTAA
ENST00000452508.6:c.2639-24_2639-21delinsTTAA ENSP00000388058.2:n.2639-24_2639-21delinsTTAA
ENST00000527805.5:c.2639-24_2639-21delinsTTAA ENSP00000435747.1:n.2639-24_2639-21delinsTTAA
NM_000051.3:c.2639-24_2639-21delinsTTAA , LRG_135t1:c.2639-24_2639-21delinsTTAA NP_000042.3:n.2639-24_2639-21delinsTTAA
XM_005271561.3:c.2639-24_2639-21delinsTTAA XP_005271618.2:n.2639-24_2639-21delinsTTAA
XM_005271562.3:c.2639-24_2639-21delinsTTAA XP_005271619.2:n.2639-24_2639-21delinsTTAA
XM_006718843.2:c.2639-24_2639-21delinsTTAA XP_006718906.1:n.2639-24_2639-21delinsTTAA
XM_011542840.1:c.2639-24_2639-21delinsTTAA XP_011541142.1:n.2639-24_2639-21delinsTTAA
XM_011542841.1:c.2639-24_2639-21delinsTTAA XP_011541143.1:n.2639-24_2639-21delinsTTAA
XM_011542842.1:c.2474-24_2474-21delinsTTAA XP_011541144.1:n.2474-24_2474-21delinsTTAA
XM_011542843.1:c.2639-24_2639-21delinsTTAA XP_011541145.1:n.2639-24_2639-21delinsTTAA
XM_011542844.1:c.1595-24_1595-21delinsTTAA XP_011541146.1:n.1595-24_1595-21delinsTTAA
XM_011542845.1:c.1331-24_1331-21delinsTTAA XP_011541147.1:n.1331-24_1331-21delinsTTAA
XM_011542846.1:c.2639-24_2639-21delinsTTAA XP_011541148.1:n.2639-24_2639-21delinsTTAA
NM_001351834.1:c.2639-24_2639-21delinsTTAA NP_001338763.1:n.2639-24_2639-21delinsTTAA
XM_005271562.5:c.2639-24_2639-21delinsTTAA XP_005271619.2:n.2639-24_2639-21delinsTTAA
XM_006718843.4:c.2639-24_2639-21delinsTTAA XP_006718906.1:n.2639-24_2639-21delinsTTAA
XM_011542840.3:c.2639-24_2639-21delinsTTAA XP_011541142.1:n.2639-24_2639-21delinsTTAA
XM_011542842.3:c.2474-24_2474-21delinsTTAA XP_011541144.1:n.2474-24_2474-21delinsTTAA
XM_011542843.2:c.2639-24_2639-21delinsTTAA XP_011541145.1:n.2639-24_2639-21delinsTTAA
XM_011542844.3:c.1595-24_1595-21delinsTTAA XP_011541146.1:n.1595-24_1595-21delinsTTAA
XM_011542845.2:c.1331-24_1331-21delinsTTAA XP_011541147.1:n.1331-24_1331-21delinsTTAA
XM_017017789.2:c.2639-24_2639-21delinsTTAA XP_016873278.1:n.2639-24_2639-21delinsTTAA
XM_017017790.2:c.2639-24_2639-21delinsTTAA XP_016873279.1:n.2639-24_2639-21delinsTTAA
XM_017017791.1:c.2639-24_2639-21delinsTTAA XP_016873280.1:n.2639-24_2639-21delinsTTAA
XM_017017792.2:c.2639-24_2639-21delinsTTAA XP_016873281.1:n.2639-24_2639-21delinsTTAA
XR_002957150.1:n.3372-24_3372-21delinsTTAA
NM_001351834.2:c.2639-24_2639-21delinsTTAA NP_001338763.1:n.2639-24_2639-21delinsTTAA
NM_000051.4:c.2639-24_2639-21delinsTTAA MANE Select NP_000042.3:n.2639-24_2639-21delinsTTAA