Canonical Allele Identifier: CA1998771355
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs2080158481

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108251781_108251782del , CM000673.2:g.108251781_108251782del GRCh38
NC_000011.9:g.108122508_108122509del , CM000673.1:g.108122508_108122509del GRCh37
NC_000011.8:g.107627718_107627719del NCBI36
NG_009830.1:g.33950_33951del , LRG_135:g.33950_33951del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.1608-56_1608-55del ENSP00000388058.2:n.1608-56_1608-55del
ENST00000713593.1:c.*1079-56_*1079-55del ENSP00000518889.1:n.*1079-56_*1079-55del
ENST00000278616.9:c.1608-56_1608-55del ENSP00000278616.4:n.1608-56_1608-55del
ENST00000682516.1:n.1742-56_1742-55del
ENST00000683174.1:n.1758-56_1758-55del
ENST00000683605.1:n.1103-56_1103-55del
ENST00000684037.1:c.*543-56_*543-55del ENSP00000508245.1:n.*543-56_*543-55del
ENST00000684061.1:n.1742-56_1742-55del
ENST00000527805.6:c.1608-56_1608-55del ENSP00000435747.2:n.1608-56_1608-55del
ENST00000675595.1:c.1443-56_1443-55del ENSP00000502563.1:n.1443-56_1443-55del
ENST00000675843.1:c.1608-56_1608-55del MANE Select ENSP00000501606.1:n.1608-56_1608-55del
ENST00000278616.8:c.1608-56_1608-55del ENSP00000278616.4:n.1608-56_1608-55del
ENST00000452508.6:c.1608-56_1608-55del ENSP00000388058.2:n.1608-56_1608-55del
ENST00000527805.5:c.1608-56_1608-55del ENSP00000435747.1:n.1608-56_1608-55del
NM_000051.3:c.1608-56_1608-55del , LRG_135t1:c.1608-56_1608-55del NP_000042.3:n.1608-56_1608-55del
XM_005271561.3:c.1608-56_1608-55del XP_005271618.2:n.1608-56_1608-55del
XM_005271562.3:c.1608-56_1608-55del XP_005271619.2:n.1608-56_1608-55del
XM_006718843.2:c.1608-56_1608-55del XP_006718906.1:n.1608-56_1608-55del
XM_011542840.1:c.1608-56_1608-55del XP_011541142.1:n.1608-56_1608-55del
XM_011542841.1:c.1608-56_1608-55del XP_011541143.1:n.1608-56_1608-55del
XM_011542842.1:c.1443-56_1443-55del XP_011541144.1:n.1443-56_1443-55del
XM_011542843.1:c.1608-56_1608-55del XP_011541145.1:n.1608-56_1608-55del
XM_011542844.1:c.564-56_564-55del XP_011541146.1:n.564-56_564-55del
XM_011542845.1:c.300-56_300-55del XP_011541147.1:n.300-56_300-55del
XM_011542846.1:c.1608-56_1608-55del XP_011541148.1:n.1608-56_1608-55del
NM_001351834.1:c.1608-56_1608-55del NP_001338763.1:n.1608-56_1608-55del
XM_005271562.5:c.1608-56_1608-55del XP_005271619.2:n.1608-56_1608-55del
XM_006718843.4:c.1608-56_1608-55del XP_006718906.1:n.1608-56_1608-55del
XM_011542840.3:c.1608-56_1608-55del XP_011541142.1:n.1608-56_1608-55del
XM_011542842.3:c.1443-56_1443-55del XP_011541144.1:n.1443-56_1443-55del
XM_011542843.2:c.1608-56_1608-55del XP_011541145.1:n.1608-56_1608-55del
XM_011542844.3:c.564-56_564-55del XP_011541146.1:n.564-56_564-55del
XM_011542845.2:c.300-56_300-55del XP_011541147.1:n.300-56_300-55del
XM_017017789.2:c.1608-56_1608-55del XP_016873278.1:n.1608-56_1608-55del
XM_017017790.2:c.1608-56_1608-55del XP_016873279.1:n.1608-56_1608-55del
XM_017017791.1:c.1608-56_1608-55del XP_016873280.1:n.1608-56_1608-55del
XM_017017792.2:c.1608-56_1608-55del XP_016873281.1:n.1608-56_1608-55del
XR_002957150.1:n.2341-56_2341-55del
NM_001351834.2:c.1608-56_1608-55del NP_001338763.1:n.1608-56_1608-55del
NM_000051.4:c.1608-56_1608-55del MANE Select NP_000042.3:n.1608-56_1608-55del