Canonical Allele Identifier: CA1998801281

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304734_108304736delinsAGA , CM000673.2:g.108304734_108304736delinsAGA	GRCh38
NC_000011.9:g.108175461_108175463delinsAGA , CM000673.1:g.108175461_108175463delinsAGA	GRCh37
NC_000011.8:g.107680671_107680673delinsAGA	NCBI36
NG_009830.1:g.86903_86905delinsAGA , LRG_135:g.86903_86905delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5556_5558delinsAGA	ENSP00000388058.2:p.Gln1852=
ENST00000713593.1:c.*5027_*5029delinsAGA	ENSP00000518889.1:n.*5027_*5029delinsAGA
ENST00000278616.9:c.5556_5558delinsAGA	ENSP00000278616.4:p.Gln1852=
ENST00000683174.1:n.7040_7042delinsAGA
ENST00000683524.1:n.780_782delinsAGA
ENST00000684152.1:n.1270_1272delinsAGA
ENST00000527805.6:c.*620_*622delinsAGA	ENSP00000435747.2:n.*620_*622delinsAGA
ENST00000675595.1:c.*620_*622delinsAGA	ENSP00000502563.1:n.*620_*622delinsAGA
ENST00000675843.1:c.5556_5558delinsAGA MANE Select	ENSP00000501606.1:p.Gln1852=
ENST00000278616.8:c.5556_5558delinsAGA	ENSP00000278616.4:p.Gln1852=
ENST00000452508.6:c.5556_5558delinsAGA	ENSP00000388058.2:p.Gln1852=
ENST00000524792.5:n.1771_1773delinsAGA
ENST00000529588.5:c.68_70delinsAGA
ENST00000533690.5:n.960_962delinsAGA
NM_000051.3:c.5556_5558delinsAGA , LRG_135t1:c.5556_5558delinsAGA	NP_000042.3:p.Gln1852=
XM_005271561.3:c.5556_5558delinsAGA	XP_005271618.2:p.Gln1852=
XM_005271562.3:c.5556_5558delinsAGA	XP_005271619.2:p.Gln1852=
XM_006718843.2:c.5556_5558delinsAGA	XP_006718906.1:p.Gln1852=
XM_006718845.1:c.1512_1514delinsAGA	XP_006718908.1:p.Gln504=
XM_011542840.1:c.5556_5558delinsAGA	XP_011541142.1:p.Gln1852=
XM_011542841.1:c.5556_5558delinsAGA	XP_011541143.1:p.Gln1852=
XM_011542842.1:c.5391_5393delinsAGA	XP_011541144.1:p.Gln1797=
XM_011542843.1:c.5556_5558delinsAGA	XP_011541145.1:p.Gln1852=
XM_011542844.1:c.4512_4514delinsAGA	XP_011541146.1:p.Gln1504=
XM_011542845.1:c.4248_4250delinsAGA	XP_011541147.1:p.Gln1416=
XM_011542847.1:c.627_629delinsAGA	XP_011541149.1:p.Gln209=
NM_001351834.1:c.5556_5558delinsAGA	NP_001338763.1:p.Gln1852=
XM_005271562.5:c.5556_5558delinsAGA	XP_005271619.2:p.Gln1852=
XM_006718843.4:c.5556_5558delinsAGA	XP_006718906.1:p.Gln1852=
XM_006718845.2:c.1512_1514delinsAGA	XP_006718908.1:p.Gln504=
XM_011542840.3:c.5556_5558delinsAGA	XP_011541142.1:p.Gln1852=
XM_011542842.3:c.5391_5393delinsAGA	XP_011541144.1:p.Gln1797=
XM_011542843.2:c.5556_5558delinsAGA	XP_011541145.1:p.Gln1852=
XM_011542844.3:c.4512_4514delinsAGA	XP_011541146.1:p.Gln1504=
XM_011542845.2:c.4248_4250delinsAGA	XP_011541147.1:p.Gln1416=
XM_017017789.2:c.5556_5558delinsAGA	XP_016873278.1:p.Gln1852=
XM_017017790.2:c.5556_5558delinsAGA	XP_016873279.1:p.Gln1852=
XM_017017791.1:c.5556_5558delinsAGA	XP_016873280.1:p.Gln1852=
XR_002957150.1:n.6156_6158delinsAGA
NM_001351834.2:c.5556_5558delinsAGA	NP_001338763.1:p.Gln1852=
NM_000051.4:c.5556_5558delinsAGA MANE Select	NP_000042.3:p.Gln1852=