Canonical Allele Identifier: CA1998772449

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268522_108268523delinsCT , CM000673.2:g.108268522_108268523delinsCT	GRCh38
NC_000011.9:g.108139249_108139250delinsCT , CM000673.1:g.108139249_108139250delinsCT	GRCh37
NC_000011.8:g.107644459_107644460delinsCT	NCBI36
NG_009830.1:g.50691_50692delinsCT , LRG_135:g.50691_50692delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2751_2752delinsCT	ENSP00000388058.2:p.Ser917=
ENST00000713593.1:c.*2222_*2223delinsCT	ENSP00000518889.1:n.*2222_*2223delinsCT
ENST00000278616.9:c.2751_2752delinsCT	ENSP00000278616.4:p.Ser917=
ENST00000682516.1:n.2772+1180_2772+1181delinsCT
ENST00000683174.1:n.2901_2902delinsCT
ENST00000684037.1:c.*1573+1180_*1573+1181delinsCT	ENSP00000508245.1:n.*1573+1180_*1573+1181delinsCT
ENST00000527805.6:c.2751_2752delinsCT	ENSP00000435747.2:p.Ser917=
ENST00000675595.1:c.2586_2587delinsCT	ENSP00000502563.1:p.Ser862=
ENST00000675843.1:c.2751_2752delinsCT MANE Select	ENSP00000501606.1:p.Ser917=
ENST00000278616.8:c.2751_2752delinsCT	ENSP00000278616.4:p.Ser917=
ENST00000419286.2:n.113_114delinsCT
ENST00000452508.6:c.2751_2752delinsCT	ENSP00000388058.2:p.Ser917=
ENST00000527805.5:c.2751_2752delinsCT	ENSP00000435747.1:p.Ser917=
NM_000051.3:c.2751_2752delinsCT , LRG_135t1:c.2751_2752delinsCT	NP_000042.3:p.Ser917=
XM_005271561.3:c.2751_2752delinsCT	XP_005271618.2:p.Ser917=
XM_005271562.3:c.2751_2752delinsCT	XP_005271619.2:p.Ser917=
XM_006718843.2:c.2751_2752delinsCT	XP_006718906.1:p.Ser917=
XM_011542840.1:c.2751_2752delinsCT	XP_011541142.1:p.Ser917=
XM_011542841.1:c.2751_2752delinsCT	XP_011541143.1:p.Ser917=
XM_011542842.1:c.2586_2587delinsCT	XP_011541144.1:p.Ser862=
XM_011542843.1:c.2751_2752delinsCT	XP_011541145.1:p.Ser917=
XM_011542844.1:c.1707_1708delinsCT	XP_011541146.1:p.Ser569=
XM_011542845.1:c.1443_1444delinsCT	XP_011541147.1:p.Ser481=
XM_011542846.1:c.2751_2752delinsCT	XP_011541148.1:p.Ser917=
NM_001351834.1:c.2751_2752delinsCT	NP_001338763.1:p.Ser917=
XM_005271562.5:c.2751_2752delinsCT	XP_005271619.2:p.Ser917=
XM_006718843.4:c.2751_2752delinsCT	XP_006718906.1:p.Ser917=
XM_011542840.3:c.2751_2752delinsCT	XP_011541142.1:p.Ser917=
XM_011542842.3:c.2586_2587delinsCT	XP_011541144.1:p.Ser862=
XM_011542843.2:c.2751_2752delinsCT	XP_011541145.1:p.Ser917=
XM_011542844.3:c.1707_1708delinsCT	XP_011541146.1:p.Ser569=
XM_011542845.2:c.1443_1444delinsCT	XP_011541147.1:p.Ser481=
XM_017017789.2:c.2751_2752delinsCT	XP_016873278.1:p.Ser917=
XM_017017790.2:c.2751_2752delinsCT	XP_016873279.1:p.Ser917=
XM_017017791.1:c.2751_2752delinsCT	XP_016873280.1:p.Ser917=
XM_017017792.2:c.2751_2752delinsCT	XP_016873281.1:p.Ser917=
XR_002957150.1:n.3484_3485delinsCT
NM_001351834.2:c.2751_2752delinsCT	NP_001338763.1:p.Ser917=
NM_000051.4:c.2751_2752delinsCT MANE Select	NP_000042.3:p.Ser917=