Canonical Allele Identifier: CA228397173
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs879286803

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108256148del , CM000673.2:g.108256148del GRCh38
NC_000011.9:g.108126875del , CM000673.1:g.108126875del GRCh37
NC_000011.8:g.107632085del NCBI36
NG_009830.1:g.38317del , LRG_135:g.38317del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.2125-67del ENSP00000388058.2:n.2125-67del
ENST00000713593.1:c.*1596-67del ENSP00000518889.1:n.*1596-67del
ENST00000278616.9:c.2125-67del ENSP00000278616.4:n.2125-67del
ENST00000682516.1:n.2259-67del
ENST00000683174.1:n.2275-67del
ENST00000683605.1:n.1620-67del
ENST00000684037.1:c.*1060-67del ENSP00000508245.1:n.*1060-67del
ENST00000684061.1:n.2259-67del
ENST00000527805.6:c.2125-67del ENSP00000435747.2:n.2125-67del
ENST00000675595.1:c.1960-67del ENSP00000502563.1:n.1960-67del
ENST00000675843.1:c.2125-67del MANE Select ENSP00000501606.1:n.2125-67del
ENST00000278616.8:c.2125-67del ENSP00000278616.4:n.2125-67del
ENST00000452508.6:c.2125-67del ENSP00000388058.2:n.2125-67del
ENST00000527805.5:c.2125-67del ENSP00000435747.1:n.2125-67del
NM_000051.3:c.2125-67del , LRG_135t1:c.2125-67del NP_000042.3:n.2125-67del
XM_005271561.3:c.2125-67del XP_005271618.2:n.2125-67del
XM_005271562.3:c.2125-67del XP_005271619.2:n.2125-67del
XM_006718843.2:c.2125-67del XP_006718906.1:n.2125-67del
XM_011542840.1:c.2125-67del XP_011541142.1:n.2125-67del
XM_011542841.1:c.2125-67del XP_011541143.1:n.2125-67del
XM_011542842.1:c.1960-67del XP_011541144.1:n.1960-67del
XM_011542843.1:c.2125-67del XP_011541145.1:n.2125-67del
XM_011542844.1:c.1081-67del XP_011541146.1:n.1081-67del
XM_011542845.1:c.817-67del XP_011541147.1:n.817-67del
XM_011542846.1:c.2125-67del XP_011541148.1:n.2125-67del
NM_001351834.1:c.2125-67del NP_001338763.1:n.2125-67del
XM_005271562.5:c.2125-67del XP_005271619.2:n.2125-67del
XM_006718843.4:c.2125-67del XP_006718906.1:n.2125-67del
XM_011542840.3:c.2125-67del XP_011541142.1:n.2125-67del
XM_011542842.3:c.1960-67del XP_011541144.1:n.1960-67del
XM_011542843.2:c.2125-67del XP_011541145.1:n.2125-67del
XM_011542844.3:c.1081-67del XP_011541146.1:n.1081-67del
XM_011542845.2:c.817-67del XP_011541147.1:n.817-67del
XM_017017789.2:c.2125-67del XP_016873278.1:n.2125-67del
XM_017017790.2:c.2125-67del XP_016873279.1:n.2125-67del
XM_017017791.1:c.2125-67del XP_016873280.1:n.2125-67del
XM_017017792.2:c.2125-67del XP_016873281.1:n.2125-67del
XR_002957150.1:n.2858-67del
NM_001351834.2:c.2125-67del NP_001338763.1:n.2125-67del
NM_000051.4:c.2125-67del MANE Select NP_000042.3:n.2125-67del