Canonical Allele Identifier: CA1998785442

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289723_108289724delinsTA , CM000673.2:g.108289723_108289724delinsTA	GRCh38
NC_000011.9:g.108160450_108160451delinsTA , CM000673.1:g.108160450_108160451delinsTA	GRCh37
NC_000011.8:g.107665660_107665661delinsTA	NCBI36
NG_009830.1:g.71892_71893delinsTA , LRG_135:g.71892_71893delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4358_4359delinsTA	ENSP00000388058.2:p.Ile1453=
ENST00000713593.1:c.*3829_*3830delinsTA	ENSP00000518889.1:n.*3829_*3830delinsTA
ENST00000278616.9:c.4358_4359delinsTA	ENSP00000278616.4:p.Ile1453=
ENST00000533733.6:n.1621_1622delinsTA
ENST00000683174.1:n.4508_4509delinsTA
ENST00000527805.6:c.4358_4359delinsTA	ENSP00000435747.2:p.Ile1453=
ENST00000675595.1:c.4193_4194delinsTA	ENSP00000502563.1:p.Ile1398=
ENST00000675843.1:c.4358_4359delinsTA MANE Select	ENSP00000501606.1:p.Ile1453=
ENST00000278616.8:c.4358_4359delinsTA	ENSP00000278616.4:p.Ile1453=
ENST00000452508.6:c.4358_4359delinsTA	ENSP00000388058.2:p.Ile1453=
ENST00000524792.5:n.573_574delinsTA
ENST00000531525.2:c.365_366delinsTA	ENSP00000434327.2:p.Ile122=
ENST00000533733.5:n.787_788delinsTA
NM_000051.3:c.4358_4359delinsTA , LRG_135t1:c.4358_4359delinsTA	NP_000042.3:p.Ile1453=
XM_005271561.3:c.4358_4359delinsTA	XP_005271618.2:p.Ile1453=
XM_005271562.3:c.4358_4359delinsTA	XP_005271619.2:p.Ile1453=
XM_006718843.2:c.4358_4359delinsTA	XP_006718906.1:p.Ile1453=
XM_006718845.1:c.314_315delinsTA	XP_006718908.1:p.Ile105=
XM_011542840.1:c.4358_4359delinsTA	XP_011541142.1:p.Ile1453=
XM_011542841.1:c.4358_4359delinsTA	XP_011541143.1:p.Ile1453=
XM_011542842.1:c.4193_4194delinsTA	XP_011541144.1:p.Ile1398=
XM_011542843.1:c.4358_4359delinsTA	XP_011541145.1:p.Ile1453=
XM_011542844.1:c.3314_3315delinsTA	XP_011541146.1:p.Ile1105=
XM_011542845.1:c.3050_3051delinsTA	XP_011541147.1:p.Ile1017=
XM_011542846.1:c.4358_4359delinsTA	XP_011541148.1:p.Ile1453=
NM_001351834.1:c.4358_4359delinsTA	NP_001338763.1:p.Ile1453=
XM_005271562.5:c.4358_4359delinsTA	XP_005271619.2:p.Ile1453=
XM_006718843.4:c.4358_4359delinsTA	XP_006718906.1:p.Ile1453=
XM_006718845.2:c.314_315delinsTA	XP_006718908.1:p.Ile105=
XM_011542840.3:c.4358_4359delinsTA	XP_011541142.1:p.Ile1453=
XM_011542842.3:c.4193_4194delinsTA	XP_011541144.1:p.Ile1398=
XM_011542843.2:c.4358_4359delinsTA	XP_011541145.1:p.Ile1453=
XM_011542844.3:c.3314_3315delinsTA	XP_011541146.1:p.Ile1105=
XM_011542845.2:c.3050_3051delinsTA	XP_011541147.1:p.Ile1017=
XM_017017789.2:c.4358_4359delinsTA	XP_016873278.1:p.Ile1453=
XM_017017790.2:c.4358_4359delinsTA	XP_016873279.1:p.Ile1453=
XM_017017791.1:c.4358_4359delinsTA	XP_016873280.1:p.Ile1453=
XM_017017792.2:c.4358_4359delinsTA	XP_016873281.1:p.Ile1453=
XR_002957150.1:n.5091_5092delinsTA
NM_001351834.2:c.4358_4359delinsTA	NP_001338763.1:p.Ile1453=
NM_000051.4:c.4358_4359delinsTA MANE Select	NP_000042.3:p.Ile1453=