Canonical Allele Identifier: CA1998775909

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257524_108257525delinsAT , CM000673.2:g.108257524_108257525delinsAT	GRCh38
NC_000011.9:g.108128251_108128252delinsAT , CM000673.1:g.108128251_108128252delinsAT	GRCh37
NC_000011.8:g.107633461_107633462delinsAT	NCBI36
NG_009830.1:g.39693_39694delinsAT , LRG_135:g.39693_39694delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2294_2295delinsAT	ENSP00000388058.2:p.Asn765=
ENST00000713593.1:c.*1765_*1766delinsAT	ENSP00000518889.1:n.*1765_*1766delinsAT
ENST00000278616.9:c.2294_2295delinsAT	ENSP00000278616.4:p.Asn765=
ENST00000682516.1:n.2428_2429delinsAT
ENST00000683174.1:n.2444_2445delinsAT
ENST00000683605.1:n.1789_1790delinsAT
ENST00000684037.1:c.*1229_*1230delinsAT	ENSP00000508245.1:n.*1229_*1230delinsAT
ENST00000527805.6:c.2294_2295delinsAT	ENSP00000435747.2:p.Asn765=
ENST00000675595.1:c.2129_2130delinsAT	ENSP00000502563.1:p.Asn710=
ENST00000675843.1:c.2294_2295delinsAT MANE Select	ENSP00000501606.1:p.Asn765=
ENST00000278616.8:c.2294_2295delinsAT	ENSP00000278616.4:p.Asn765=
ENST00000452508.6:c.2294_2295delinsAT	ENSP00000388058.2:p.Asn765=
ENST00000527805.5:c.2294_2295delinsAT	ENSP00000435747.1:p.Asn765=
NM_000051.3:c.2294_2295delinsAT , LRG_135t1:c.2294_2295delinsAT	NP_000042.3:p.Asn765=
XM_005271561.3:c.2294_2295delinsAT	XP_005271618.2:p.Asn765=
XM_005271562.3:c.2294_2295delinsAT	XP_005271619.2:p.Asn765=
XM_006718843.2:c.2294_2295delinsAT	XP_006718906.1:p.Asn765=
XM_011542840.1:c.2294_2295delinsAT	XP_011541142.1:p.Asn765=
XM_011542841.1:c.2294_2295delinsAT	XP_011541143.1:p.Asn765=
XM_011542842.1:c.2129_2130delinsAT	XP_011541144.1:p.Asn710=
XM_011542843.1:c.2294_2295delinsAT	XP_011541145.1:p.Asn765=
XM_011542844.1:c.1250_1251delinsAT	XP_011541146.1:p.Asn417=
XM_011542845.1:c.986_987delinsAT	XP_011541147.1:p.Asn329=
XM_011542846.1:c.2294_2295delinsAT	XP_011541148.1:p.Asn765=
NM_001351834.1:c.2294_2295delinsAT	NP_001338763.1:p.Asn765=
XM_005271562.5:c.2294_2295delinsAT	XP_005271619.2:p.Asn765=
XM_006718843.4:c.2294_2295delinsAT	XP_006718906.1:p.Asn765=
XM_011542840.3:c.2294_2295delinsAT	XP_011541142.1:p.Asn765=
XM_011542842.3:c.2129_2130delinsAT	XP_011541144.1:p.Asn710=
XM_011542843.2:c.2294_2295delinsAT	XP_011541145.1:p.Asn765=
XM_011542844.3:c.1250_1251delinsAT	XP_011541146.1:p.Asn417=
XM_011542845.2:c.986_987delinsAT	XP_011541147.1:p.Asn329=
XM_017017789.2:c.2294_2295delinsAT	XP_016873278.1:p.Asn765=
XM_017017790.2:c.2294_2295delinsAT	XP_016873279.1:p.Asn765=
XM_017017791.1:c.2294_2295delinsAT	XP_016873280.1:p.Asn765=
XM_017017792.2:c.2294_2295delinsAT	XP_016873281.1:p.Asn765=
XR_002957150.1:n.3027_3028delinsAT
NM_001351834.2:c.2294_2295delinsAT	NP_001338763.1:p.Asn765=
NM_000051.4:c.2294_2295delinsAT MANE Select	NP_000042.3:p.Asn765=