Canonical Allele Identifier: CA1998784871
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289617_108289620delinsATTC , CM000673.2:g.108289617_108289620delinsATTC GRCh38
NC_000011.9:g.108160344_108160347delinsATTC , CM000673.1:g.108160344_108160347delinsATTC GRCh37
NC_000011.8:g.107665554_107665557delinsATTC NCBI36
NG_009830.1:g.71786_71789delinsATTC , LRG_135:g.71786_71789delinsATTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4252_4255delinsATTC ENSP00000388058.2:p.Ile1418=
ENST00000713593.1:c.*3723_*3726delinsATTC ENSP00000518889.1:n.*3723_*3726delinsATTC
ENST00000278616.9:c.4252_4255delinsATTC ENSP00000278616.4:p.Ile1418=
ENST00000533733.6:n.1515_1518delinsATTC
ENST00000683174.1:n.4402_4405delinsATTC
ENST00000527805.6:c.4252_4255delinsATTC ENSP00000435747.2:p.Ile1418=
ENST00000675595.1:c.4087_4090delinsATTC ENSP00000502563.1:p.Ile1363=
ENST00000675843.1:c.4252_4255delinsATTC MANE Select ENSP00000501606.1:p.Ile1418=
ENST00000278616.8:c.4252_4255delinsATTC ENSP00000278616.4:p.Ile1418=
ENST00000452508.6:c.4252_4255delinsATTC ENSP00000388058.2:p.Ile1418=
ENST00000524792.5:n.467_470delinsATTC
ENST00000531525.2:c.259_262delinsATTC ENSP00000434327.2:p.Ile87=
ENST00000533733.5:n.681_684delinsATTC
NM_000051.3:c.4252_4255delinsATTC , LRG_135t1:c.4252_4255delinsATTC NP_000042.3:p.Ile1418=
XM_005271561.3:c.4252_4255delinsATTC XP_005271618.2:p.Ile1418=
XM_005271562.3:c.4252_4255delinsATTC XP_005271619.2:p.Ile1418=
XM_006718843.2:c.4252_4255delinsATTC XP_006718906.1:p.Ile1418=
XM_006718845.1:c.208_211delinsATTC XP_006718908.1:p.Ile70=
XM_011542840.1:c.4252_4255delinsATTC XP_011541142.1:p.Ile1418=
XM_011542841.1:c.4252_4255delinsATTC XP_011541143.1:p.Ile1418=
XM_011542842.1:c.4087_4090delinsATTC XP_011541144.1:p.Ile1363=
XM_011542843.1:c.4252_4255delinsATTC XP_011541145.1:p.Ile1418=
XM_011542844.1:c.3208_3211delinsATTC XP_011541146.1:p.Ile1070=
XM_011542845.1:c.2944_2947delinsATTC XP_011541147.1:p.Ile982=
XM_011542846.1:c.4252_4255delinsATTC XP_011541148.1:p.Ile1418=
NM_001351834.1:c.4252_4255delinsATTC NP_001338763.1:p.Ile1418=
XM_005271562.5:c.4252_4255delinsATTC XP_005271619.2:p.Ile1418=
XM_006718843.4:c.4252_4255delinsATTC XP_006718906.1:p.Ile1418=
XM_006718845.2:c.208_211delinsATTC XP_006718908.1:p.Ile70=
XM_011542840.3:c.4252_4255delinsATTC XP_011541142.1:p.Ile1418=
XM_011542842.3:c.4087_4090delinsATTC XP_011541144.1:p.Ile1363=
XM_011542843.2:c.4252_4255delinsATTC XP_011541145.1:p.Ile1418=
XM_011542844.3:c.3208_3211delinsATTC XP_011541146.1:p.Ile1070=
XM_011542845.2:c.2944_2947delinsATTC XP_011541147.1:p.Ile982=
XM_017017789.2:c.4252_4255delinsATTC XP_016873278.1:p.Ile1418=
XM_017017790.2:c.4252_4255delinsATTC XP_016873279.1:p.Ile1418=
XM_017017791.1:c.4252_4255delinsATTC XP_016873280.1:p.Ile1418=
XM_017017792.2:c.4252_4255delinsATTC XP_016873281.1:p.Ile1418=
XR_002957150.1:n.4985_4988delinsATTC
NM_001351834.2:c.4252_4255delinsATTC NP_001338763.1:p.Ile1418=
NM_000051.4:c.4252_4255delinsATTC MANE Select NP_000042.3:p.Ile1418=