Canonical Allele Identifier: CA1998785575
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108279502_108279503delinsAC , CM000673.2:g.108279502_108279503delinsAC GRCh38
NC_000011.9:g.108150229_108150230delinsAC , CM000673.1:g.108150229_108150230delinsAC GRCh37
NC_000011.8:g.107655439_107655440delinsAC NCBI36
NG_009830.1:g.61671_61672delinsAC , LRG_135:g.61671_61672delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3296_3297delinsAC ENSP00000388058.2:p.Asp1099=
ENST00000713593.1:c.*2767_*2768delinsAC ENSP00000518889.1:n.*2767_*2768delinsAC
ENST00000278616.9:c.3296_3297delinsAC ENSP00000278616.4:p.Asp1099=
ENST00000683174.1:n.3446_3447delinsAC
ENST00000527805.6:c.3296_3297delinsAC ENSP00000435747.2:p.Asp1099=
ENST00000675595.1:c.3131_3132delinsAC ENSP00000502563.1:p.Asp1044=
ENST00000675843.1:c.3296_3297delinsAC MANE Select ENSP00000501606.1:p.Asp1099=
ENST00000278616.8:c.3296_3297delinsAC ENSP00000278616.4:p.Asp1099=
ENST00000452508.6:c.3296_3297delinsAC ENSP00000388058.2:p.Asp1099=
ENST00000527805.5:c.3296_3297delinsAC ENSP00000435747.1:p.Asp1099=
NM_000051.3:c.3296_3297delinsAC , LRG_135t1:c.3296_3297delinsAC NP_000042.3:p.Asp1099=
XM_005271561.3:c.3296_3297delinsAC XP_005271618.2:p.Asp1099=
XM_005271562.3:c.3296_3297delinsAC XP_005271619.2:p.Asp1099=
XM_006718843.2:c.3296_3297delinsAC XP_006718906.1:p.Asp1099=
XM_011542840.1:c.3296_3297delinsAC XP_011541142.1:p.Asp1099=
XM_011542841.1:c.3296_3297delinsAC XP_011541143.1:p.Asp1099=
XM_011542842.1:c.3131_3132delinsAC XP_011541144.1:p.Asp1044=
XM_011542843.1:c.3296_3297delinsAC XP_011541145.1:p.Asp1099=
XM_011542844.1:c.2252_2253delinsAC XP_011541146.1:p.Asp751=
XM_011542845.1:c.1988_1989delinsAC XP_011541147.1:p.Asp663=
XM_011542846.1:c.3296_3297delinsAC XP_011541148.1:p.Asp1099=
NM_001351834.1:c.3296_3297delinsAC NP_001338763.1:p.Asp1099=
XM_005271562.5:c.3296_3297delinsAC XP_005271619.2:p.Asp1099=
XM_006718843.4:c.3296_3297delinsAC XP_006718906.1:p.Asp1099=
XM_011542840.3:c.3296_3297delinsAC XP_011541142.1:p.Asp1099=
XM_011542842.3:c.3131_3132delinsAC XP_011541144.1:p.Asp1044=
XM_011542843.2:c.3296_3297delinsAC XP_011541145.1:p.Asp1099=
XM_011542844.3:c.2252_2253delinsAC XP_011541146.1:p.Asp751=
XM_011542845.2:c.1988_1989delinsAC XP_011541147.1:p.Asp663=
XM_017017789.2:c.3296_3297delinsAC XP_016873278.1:p.Asp1099=
XM_017017790.2:c.3296_3297delinsAC XP_016873279.1:p.Asp1099=
XM_017017791.1:c.3296_3297delinsAC XP_016873280.1:p.Asp1099=
XM_017017792.2:c.3296_3297delinsAC XP_016873281.1:p.Asp1099=
XR_002957150.1:n.4029_4030delinsAC
NM_001351834.2:c.3296_3297delinsAC NP_001338763.1:p.Asp1099=
NM_000051.4:c.3296_3297delinsAC MANE Select NP_000042.3:p.Asp1099=