Canonical Allele Identifier: CA1998785353
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108279444_108279445delinsGA , CM000673.2:g.108279444_108279445delinsGA GRCh38
NC_000011.9:g.108150171_108150172delinsGA , CM000673.1:g.108150171_108150172delinsGA GRCh37
NC_000011.8:g.107655381_107655382delinsGA NCBI36
NG_009830.1:g.61613_61614delinsGA , LRG_135:g.61613_61614delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3285-47_3285-46delinsGA ENSP00000388058.2:n.3285-47_3285-46delinsGA
ENST00000713593.1:c.*2756-47_*2756-46delinsGA ENSP00000518889.1:n.*2756-47_*2756-46delinsGA
ENST00000278616.9:c.3285-47_3285-46delinsGA ENSP00000278616.4:n.3285-47_3285-46delinsGA
ENST00000683174.1:n.3435-47_3435-46delinsGA
ENST00000527805.6:c.3285-47_3285-46delinsGA ENSP00000435747.2:n.3285-47_3285-46delinsGA
ENST00000675595.1:c.3120-47_3120-46delinsGA ENSP00000502563.1:n.3120-47_3120-46delinsGA
ENST00000675843.1:c.3285-47_3285-46delinsGA MANE Select ENSP00000501606.1:n.3285-47_3285-46delinsGA
ENST00000278616.8:c.3285-47_3285-46delinsGA ENSP00000278616.4:n.3285-47_3285-46delinsGA
ENST00000452508.6:c.3285-47_3285-46delinsGA ENSP00000388058.2:n.3285-47_3285-46delinsGA
ENST00000527805.5:c.3285-47_3285-46delinsGA ENSP00000435747.1:n.3285-47_3285-46delinsGA
NM_000051.3:c.3285-47_3285-46delinsGA , LRG_135t1:c.3285-47_3285-46delinsGA NP_000042.3:n.3285-47_3285-46delinsGA
XM_005271561.3:c.3285-47_3285-46delinsGA XP_005271618.2:n.3285-47_3285-46delinsGA
XM_005271562.3:c.3285-47_3285-46delinsGA XP_005271619.2:n.3285-47_3285-46delinsGA
XM_006718843.2:c.3285-47_3285-46delinsGA XP_006718906.1:n.3285-47_3285-46delinsGA
XM_011542840.1:c.3285-47_3285-46delinsGA XP_011541142.1:n.3285-47_3285-46delinsGA
XM_011542841.1:c.3285-47_3285-46delinsGA XP_011541143.1:n.3285-47_3285-46delinsGA
XM_011542842.1:c.3120-47_3120-46delinsGA XP_011541144.1:n.3120-47_3120-46delinsGA
XM_011542843.1:c.3285-47_3285-46delinsGA XP_011541145.1:n.3285-47_3285-46delinsGA
XM_011542844.1:c.2241-47_2241-46delinsGA XP_011541146.1:n.2241-47_2241-46delinsGA
XM_011542845.1:c.1977-47_1977-46delinsGA XP_011541147.1:n.1977-47_1977-46delinsGA
XM_011542846.1:c.3285-47_3285-46delinsGA XP_011541148.1:n.3285-47_3285-46delinsGA
NM_001351834.1:c.3285-47_3285-46delinsGA NP_001338763.1:n.3285-47_3285-46delinsGA
XM_005271562.5:c.3285-47_3285-46delinsGA XP_005271619.2:n.3285-47_3285-46delinsGA
XM_006718843.4:c.3285-47_3285-46delinsGA XP_006718906.1:n.3285-47_3285-46delinsGA
XM_011542840.3:c.3285-47_3285-46delinsGA XP_011541142.1:n.3285-47_3285-46delinsGA
XM_011542842.3:c.3120-47_3120-46delinsGA XP_011541144.1:n.3120-47_3120-46delinsGA
XM_011542843.2:c.3285-47_3285-46delinsGA XP_011541145.1:n.3285-47_3285-46delinsGA
XM_011542844.3:c.2241-47_2241-46delinsGA XP_011541146.1:n.2241-47_2241-46delinsGA
XM_011542845.2:c.1977-47_1977-46delinsGA XP_011541147.1:n.1977-47_1977-46delinsGA
XM_017017789.2:c.3285-47_3285-46delinsGA XP_016873278.1:n.3285-47_3285-46delinsGA
XM_017017790.2:c.3285-47_3285-46delinsGA XP_016873279.1:n.3285-47_3285-46delinsGA
XM_017017791.1:c.3285-47_3285-46delinsGA XP_016873280.1:n.3285-47_3285-46delinsGA
XM_017017792.2:c.3285-47_3285-46delinsGA XP_016873281.1:n.3285-47_3285-46delinsGA
XR_002957150.1:n.4018-47_4018-46delinsGA
NM_001351834.2:c.3285-47_3285-46delinsGA NP_001338763.1:n.3285-47_3285-46delinsGA
NM_000051.4:c.3285-47_3285-46delinsGA MANE Select NP_000042.3:n.3285-47_3285-46delinsGA