Canonical Allele Identifier: CA1998783836
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108268176_108268177delinsCA , CM000673.2:g.108268176_108268177delinsCA GRCh38
NC_000011.9:g.108138903_108138904delinsCA , CM000673.1:g.108138903_108138904delinsCA GRCh37
NC_000011.8:g.107644113_107644114delinsCA NCBI36
NG_009830.1:g.50345_50346delinsCA , LRG_135:g.50345_50346delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2639-234_2639-233delinsCA ENSP00000388058.2:n.2639-234_2639-233delinsCA
ENST00000713593.1:c.*2110-234_*2110-233delinsCA ENSP00000518889.1:n.*2110-234_*2110-233delinsCA
ENST00000278616.9:c.2639-234_2639-233delinsCA ENSP00000278616.4:n.2639-234_2639-233delinsCA
ENST00000682516.1:n.2772+834_2772+835delinsCA
ENST00000683174.1:n.2789-234_2789-233delinsCA
ENST00000684037.1:c.*1573+834_*1573+835delinsCA ENSP00000508245.1:n.*1573+834_*1573+835delinsCA
ENST00000527805.6:c.2639-234_2639-233delinsCA ENSP00000435747.2:n.2639-234_2639-233delinsCA
ENST00000675595.1:c.2474-234_2474-233delinsCA ENSP00000502563.1:n.2474-234_2474-233delinsCA
ENST00000675843.1:c.2639-234_2639-233delinsCA MANE Select ENSP00000501606.1:n.2639-234_2639-233delinsCA
ENST00000278616.8:c.2639-234_2639-233delinsCA ENSP00000278616.4:n.2639-234_2639-233delinsCA
ENST00000452508.6:c.2639-234_2639-233delinsCA ENSP00000388058.2:n.2639-234_2639-233delinsCA
ENST00000527805.5:c.2639-234_2639-233delinsCA ENSP00000435747.1:n.2639-234_2639-233delinsCA
NM_000051.3:c.2639-234_2639-233delinsCA , LRG_135t1:c.2639-234_2639-233delinsCA NP_000042.3:n.2639-234_2639-233delinsCA
XM_005271561.3:c.2639-234_2639-233delinsCA XP_005271618.2:n.2639-234_2639-233delinsCA
XM_005271562.3:c.2639-234_2639-233delinsCA XP_005271619.2:n.2639-234_2639-233delinsCA
XM_006718843.2:c.2639-234_2639-233delinsCA XP_006718906.1:n.2639-234_2639-233delinsCA
XM_011542840.1:c.2639-234_2639-233delinsCA XP_011541142.1:n.2639-234_2639-233delinsCA
XM_011542841.1:c.2639-234_2639-233delinsCA XP_011541143.1:n.2639-234_2639-233delinsCA
XM_011542842.1:c.2474-234_2474-233delinsCA XP_011541144.1:n.2474-234_2474-233delinsCA
XM_011542843.1:c.2639-234_2639-233delinsCA XP_011541145.1:n.2639-234_2639-233delinsCA
XM_011542844.1:c.1595-234_1595-233delinsCA XP_011541146.1:n.1595-234_1595-233delinsCA
XM_011542845.1:c.1331-234_1331-233delinsCA XP_011541147.1:n.1331-234_1331-233delinsCA
XM_011542846.1:c.2639-234_2639-233delinsCA XP_011541148.1:n.2639-234_2639-233delinsCA
NM_001351834.1:c.2639-234_2639-233delinsCA NP_001338763.1:n.2639-234_2639-233delinsCA
XM_005271562.5:c.2639-234_2639-233delinsCA XP_005271619.2:n.2639-234_2639-233delinsCA
XM_006718843.4:c.2639-234_2639-233delinsCA XP_006718906.1:n.2639-234_2639-233delinsCA
XM_011542840.3:c.2639-234_2639-233delinsCA XP_011541142.1:n.2639-234_2639-233delinsCA
XM_011542842.3:c.2474-234_2474-233delinsCA XP_011541144.1:n.2474-234_2474-233delinsCA
XM_011542843.2:c.2639-234_2639-233delinsCA XP_011541145.1:n.2639-234_2639-233delinsCA
XM_011542844.3:c.1595-234_1595-233delinsCA XP_011541146.1:n.1595-234_1595-233delinsCA
XM_011542845.2:c.1331-234_1331-233delinsCA XP_011541147.1:n.1331-234_1331-233delinsCA
XM_017017789.2:c.2639-234_2639-233delinsCA XP_016873278.1:n.2639-234_2639-233delinsCA
XM_017017790.2:c.2639-234_2639-233delinsCA XP_016873279.1:n.2639-234_2639-233delinsCA
XM_017017791.1:c.2639-234_2639-233delinsCA XP_016873280.1:n.2639-234_2639-233delinsCA
XM_017017792.2:c.2639-234_2639-233delinsCA XP_016873281.1:n.2639-234_2639-233delinsCA
XR_002957150.1:n.3372-234_3372-233delinsCA
NM_001351834.2:c.2639-234_2639-233delinsCA NP_001338763.1:n.2639-234_2639-233delinsCA
NM_000051.4:c.2639-234_2639-233delinsCA MANE Select NP_000042.3:n.2639-234_2639-233delinsCA