Canonical Allele Identifier: CA1998803732

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307977_108307979delinsCAA , CM000673.2:g.108307977_108307979delinsCAA	GRCh38
NC_000011.9:g.108178704_108178706delinsCAA , CM000673.1:g.108178704_108178706delinsCAA	GRCh37
NC_000011.8:g.107683914_107683916delinsCAA	NCBI36
NG_009830.1:g.90146_90148delinsCAA , LRG_135:g.90146_90148delinsCAA
NG_054724.1:g.166854_166856delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5755_5757delinsCAA	ENSP00000388058.2:p.Gln1919=
ENST00000713593.1:c.*5226_*5228delinsCAA	ENSP00000518889.1:n.*5226_*5228delinsCAA
ENST00000278616.9:c.5755_5757delinsCAA	ENSP00000278616.4:p.Gln1919=
ENST00000525056.2:n.174_176delinsCAA
ENST00000682286.1:n.512_514delinsCAA
ENST00000682302.1:n.173_175delinsCAA
ENST00000683174.1:n.7239_7241delinsCAA
ENST00000683524.1:n.979_981delinsCAA
ENST00000684152.1:n.1469_1471delinsCAA
ENST00000527805.6:c.*819_*821delinsCAA	ENSP00000435747.2:n.*819_*821delinsCAA
ENST00000675595.1:c.*819_*821delinsCAA	ENSP00000502563.1:n.*819_*821delinsCAA
ENST00000675843.1:c.5755_5757delinsCAA MANE Select	ENSP00000501606.1:p.Gln1919=
ENST00000278616.8:c.5755_5757delinsCAA	ENSP00000278616.4:p.Gln1919=
ENST00000452508.6:c.5755_5757delinsCAA	ENSP00000388058.2:p.Gln1919=
ENST00000524792.5:n.1970_1972delinsCAA
ENST00000529588.5:c.187-2183_187-2181delinsCAA
ENST00000533690.5:n.1159_1161delinsCAA
NM_000051.3:c.5755_5757delinsCAA , LRG_135t1:c.5755_5757delinsCAA	NP_000042.3:p.Gln1919=
XM_005271561.3:c.5755_5757delinsCAA	XP_005271618.2:p.Gln1919=
XM_005271562.3:c.5755_5757delinsCAA	XP_005271619.2:p.Gln1919=
XM_006718843.2:c.5755_5757delinsCAA	XP_006718906.1:p.Gln1919=
XM_006718845.1:c.1711_1713delinsCAA	XP_006718908.1:p.Gln571=
XM_011542840.1:c.5755_5757delinsCAA	XP_011541142.1:p.Gln1919=
XM_011542841.1:c.5755_5757delinsCAA	XP_011541143.1:p.Gln1919=
XM_011542842.1:c.5590_5592delinsCAA	XP_011541144.1:p.Gln1864=
XM_011542843.1:c.5755_5757delinsCAA	XP_011541145.1:p.Gln1919=
XM_011542844.1:c.4711_4713delinsCAA	XP_011541146.1:p.Gln1571=
XM_011542845.1:c.4447_4449delinsCAA	XP_011541147.1:p.Gln1483=
XM_011542847.1:c.826_828delinsCAA	XP_011541149.1:p.Gln276=
NM_001351834.1:c.5755_5757delinsCAA	NP_001338763.1:p.Gln1919=
XM_005271562.5:c.5755_5757delinsCAA	XP_005271619.2:p.Gln1919=
XM_006718843.4:c.5755_5757delinsCAA	XP_006718906.1:p.Gln1919=
XM_006718845.2:c.1711_1713delinsCAA	XP_006718908.1:p.Gln571=
XM_011542840.3:c.5755_5757delinsCAA	XP_011541142.1:p.Gln1919=
XM_011542842.3:c.5590_5592delinsCAA	XP_011541144.1:p.Gln1864=
XM_011542843.2:c.5755_5757delinsCAA	XP_011541145.1:p.Gln1919=
XM_011542844.3:c.4711_4713delinsCAA	XP_011541146.1:p.Gln1571=
XM_011542845.2:c.4447_4449delinsCAA	XP_011541147.1:p.Gln1483=
XM_017017789.2:c.5755_5757delinsCAA	XP_016873278.1:p.Gln1919=
XM_017017790.2:c.5755_5757delinsCAA	XP_016873279.1:p.Gln1919=
XM_017017791.1:c.5755_5757delinsCAA	XP_016873280.1:p.Gln1919=
XR_002957150.1:n.6355_6357delinsCAA
NM_001351834.2:c.5755_5757delinsCAA	NP_001338763.1:p.Gln1919=
NM_000051.4:c.5755_5757delinsCAA MANE Select	NP_000042.3:p.Gln1919=