Canonical Allele Identifier: CA1998800100

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302986_108302987delinsGC , CM000673.2:g.108302986_108302987delinsGC	GRCh38
NC_000011.9:g.108173713_108173714delinsGC , CM000673.1:g.108173713_108173714delinsGC	GRCh37
NC_000011.8:g.107678923_107678924delinsGC	NCBI36
NG_009830.1:g.85155_85156delinsGC , LRG_135:g.85155_85156delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5453_5454delinsGC	ENSP00000388058.2:p.Gly1818=
ENST00000713593.1:c.*4924_*4925delinsGC	ENSP00000518889.1:n.*4924_*4925delinsGC
ENST00000278616.9:c.5453_5454delinsGC	ENSP00000278616.4:p.Gly1818=
ENST00000683174.1:n.6937_6938delinsGC
ENST00000683524.1:n.677_678delinsGC
ENST00000684152.1:n.1167_1168delinsGC
ENST00000527805.6:c.*517_*518delinsGC	ENSP00000435747.2:n.*517_*518delinsGC
ENST00000675595.1:c.*517_*518delinsGC	ENSP00000502563.1:n.*517_*518delinsGC
ENST00000675843.1:c.5453_5454delinsGC MANE Select	ENSP00000501606.1:p.Gly1818=
ENST00000278616.8:c.5453_5454delinsGC	ENSP00000278616.4:p.Gly1818=
ENST00000452508.6:c.5453_5454delinsGC	ENSP00000388058.2:p.Gly1818=
ENST00000524792.5:n.1668_1669delinsGC
ENST00000533690.5:n.857_858delinsGC
ENST00000534625.1:n.682_683delinsGC
NM_000051.3:c.5453_5454delinsGC , LRG_135t1:c.5453_5454delinsGC	NP_000042.3:p.Gly1818=
XM_005271561.3:c.5453_5454delinsGC	XP_005271618.2:p.Gly1818=
XM_005271562.3:c.5453_5454delinsGC	XP_005271619.2:p.Gly1818=
XM_006718843.2:c.5453_5454delinsGC	XP_006718906.1:p.Gly1818=
XM_006718845.1:c.1409_1410delinsGC	XP_006718908.1:p.Gly470=
XM_011542840.1:c.5453_5454delinsGC	XP_011541142.1:p.Gly1818=
XM_011542841.1:c.5453_5454delinsGC	XP_011541143.1:p.Gly1818=
XM_011542842.1:c.5288_5289delinsGC	XP_011541144.1:p.Gly1763=
XM_011542843.1:c.5453_5454delinsGC	XP_011541145.1:p.Gly1818=
XM_011542844.1:c.4409_4410delinsGC	XP_011541146.1:p.Gly1470=
XM_011542845.1:c.4145_4146delinsGC	XP_011541147.1:p.Gly1382=
XM_011542847.1:c.524_525delinsGC	XP_011541149.1:p.Gly175=
NM_001351834.1:c.5453_5454delinsGC	NP_001338763.1:p.Gly1818=
XM_005271562.5:c.5453_5454delinsGC	XP_005271619.2:p.Gly1818=
XM_006718843.4:c.5453_5454delinsGC	XP_006718906.1:p.Gly1818=
XM_006718845.2:c.1409_1410delinsGC	XP_006718908.1:p.Gly470=
XM_011542840.3:c.5453_5454delinsGC	XP_011541142.1:p.Gly1818=
XM_011542842.3:c.5288_5289delinsGC	XP_011541144.1:p.Gly1763=
XM_011542843.2:c.5453_5454delinsGC	XP_011541145.1:p.Gly1818=
XM_011542844.3:c.4409_4410delinsGC	XP_011541146.1:p.Gly1470=
XM_011542845.2:c.4145_4146delinsGC	XP_011541147.1:p.Gly1382=
XM_017017789.2:c.5453_5454delinsGC	XP_016873278.1:p.Gly1818=
XM_017017790.2:c.5453_5454delinsGC	XP_016873279.1:p.Gly1818=
XM_017017791.1:c.5453_5454delinsGC	XP_016873280.1:p.Gly1818=
XR_002957150.1:n.6053_6054delinsGC
NM_001351834.2:c.5453_5454delinsGC	NP_001338763.1:p.Gly1818=
NM_000051.4:c.5453_5454delinsGC MANE Select	NP_000042.3:p.Gly1818=