Canonical Allele Identifier: CA1998803650

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307900_108307902delinsCAG , CM000673.2:g.108307900_108307902delinsCAG	GRCh38
NC_000011.9:g.108178627_108178629delinsCAG , CM000673.1:g.108178627_108178629delinsCAG	GRCh37
NC_000011.8:g.107683837_107683839delinsCAG	NCBI36
NG_009830.1:g.90069_90071delinsCAG , LRG_135:g.90069_90071delinsCAG
NG_054724.1:g.166931_166933delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5678_5680delinsCAG	ENSP00000388058.2:p.Ser1893=
ENST00000713593.1:c.*5149_*5151delinsCAG	ENSP00000518889.1:n.*5149_*5151delinsCAG
ENST00000278616.9:c.5678_5680delinsCAG	ENSP00000278616.4:p.Ser1893=
ENST00000525056.2:n.97_99delinsCAG
ENST00000682286.1:n.435_437delinsCAG
ENST00000682302.1:n.96_98delinsCAG
ENST00000683174.1:n.7162_7164delinsCAG
ENST00000683524.1:n.902_904delinsCAG
ENST00000684152.1:n.1392_1394delinsCAG
ENST00000527805.6:c.*742_*744delinsCAG	ENSP00000435747.2:n.*742_*744delinsCAG
ENST00000675595.1:c.*742_*744delinsCAG	ENSP00000502563.1:n.*742_*744delinsCAG
ENST00000675843.1:c.5678_5680delinsCAG MANE Select	ENSP00000501606.1:p.Ser1893=
ENST00000278616.8:c.5678_5680delinsCAG	ENSP00000278616.4:p.Ser1893=
ENST00000452508.6:c.5678_5680delinsCAG	ENSP00000388058.2:p.Ser1893=
ENST00000524792.5:n.1893_1895delinsCAG
ENST00000529588.5:c.187-2260_187-2258delinsCAG
ENST00000533690.5:n.1082_1084delinsCAG
NM_000051.3:c.5678_5680delinsCAG , LRG_135t1:c.5678_5680delinsCAG	NP_000042.3:p.Ser1893=
XM_005271561.3:c.5678_5680delinsCAG	XP_005271618.2:p.Ser1893=
XM_005271562.3:c.5678_5680delinsCAG	XP_005271619.2:p.Ser1893=
XM_006718843.2:c.5678_5680delinsCAG	XP_006718906.1:p.Ser1893=
XM_006718845.1:c.1634_1636delinsCAG	XP_006718908.1:p.Ser545=
XM_011542840.1:c.5678_5680delinsCAG	XP_011541142.1:p.Ser1893=
XM_011542841.1:c.5678_5680delinsCAG	XP_011541143.1:p.Ser1893=
XM_011542842.1:c.5513_5515delinsCAG	XP_011541144.1:p.Ser1838=
XM_011542843.1:c.5678_5680delinsCAG	XP_011541145.1:p.Ser1893=
XM_011542844.1:c.4634_4636delinsCAG	XP_011541146.1:p.Ser1545=
XM_011542845.1:c.4370_4372delinsCAG	XP_011541147.1:p.Ser1457=
XM_011542847.1:c.749_751delinsCAG	XP_011541149.1:p.Ser250=
NM_001351834.1:c.5678_5680delinsCAG	NP_001338763.1:p.Ser1893=
XM_005271562.5:c.5678_5680delinsCAG	XP_005271619.2:p.Ser1893=
XM_006718843.4:c.5678_5680delinsCAG	XP_006718906.1:p.Ser1893=
XM_006718845.2:c.1634_1636delinsCAG	XP_006718908.1:p.Ser545=
XM_011542840.3:c.5678_5680delinsCAG	XP_011541142.1:p.Ser1893=
XM_011542842.3:c.5513_5515delinsCAG	XP_011541144.1:p.Ser1838=
XM_011542843.2:c.5678_5680delinsCAG	XP_011541145.1:p.Ser1893=
XM_011542844.3:c.4634_4636delinsCAG	XP_011541146.1:p.Ser1545=
XM_011542845.2:c.4370_4372delinsCAG	XP_011541147.1:p.Ser1457=
XM_017017789.2:c.5678_5680delinsCAG	XP_016873278.1:p.Ser1893=
XM_017017790.2:c.5678_5680delinsCAG	XP_016873279.1:p.Ser1893=
XM_017017791.1:c.5678_5680delinsCAG	XP_016873280.1:p.Ser1893=
XR_002957150.1:n.6278_6280delinsCAG
NM_001351834.2:c.5678_5680delinsCAG	NP_001338763.1:p.Ser1893=
NM_000051.4:c.5678_5680delinsCAG MANE Select	NP_000042.3:p.Ser1893=