Canonical Allele Identifier: CA2615846579

Gene: ATM

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257518_108257519dup , CM000673.2:g.108257518_108257519dup	GRCh38
NC_000011.9:g.108128245_108128246dup , CM000673.1:g.108128245_108128246dup	GRCh37
NC_000011.8:g.107633455_107633456dup	NCBI36
NG_009830.1:g.39687_39688dup , LRG_135:g.39687_39688dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2288_2289dup	ENSP00000388058.2:p.Lys764LeufsTer14
ENST00000713593.1:c.*1759_*1760dup	ENSP00000518889.1:n.*1759_*1760dup
ENST00000278616.9:c.2288_2289dup	ENSP00000278616.4:p.Lys764LeufsTer14
ENST00000682516.1:n.2422_2423dup
ENST00000683174.1:n.2438_2439dup
ENST00000683605.1:n.1783_1784dup
ENST00000684037.1:c.*1223_*1224dup	ENSP00000508245.1:n.*1223_*1224dup
ENST00000527805.6:c.2288_2289dup	ENSP00000435747.2:p.Lys764LeufsTer14
ENST00000675595.1:c.2123_2124dup	ENSP00000502563.1:p.Lys709LeufsTer14
ENST00000675843.1:c.2288_2289dup MANE Select	ENSP00000501606.1:p.Lys764LeufsTer14
ENST00000278616.8:c.2288_2289dup	ENSP00000278616.4:p.Lys764LeufsTer14
ENST00000452508.6:c.2288_2289dup	ENSP00000388058.2:p.Lys764LeufsTer14
ENST00000527805.5:c.2288_2289dup	ENSP00000435747.1:p.Lys764LeufsTer14
NM_000051.3:c.2288_2289dup , LRG_135t1:c.2288_2289dup	NP_000042.3:p.Lys764LeufsTer14
XM_005271561.3:c.2288_2289dup	XP_005271618.2:p.Lys764LeufsTer14
XM_005271562.3:c.2288_2289dup	XP_005271619.2:p.Lys764LeufsTer14
XM_006718843.2:c.2288_2289dup	XP_006718906.1:p.Lys764LeufsTer14
XM_011542840.1:c.2288_2289dup	XP_011541142.1:p.Lys764LeufsTer14
XM_011542841.1:c.2288_2289dup	XP_011541143.1:p.Lys764LeufsTer14
XM_011542842.1:c.2123_2124dup	XP_011541144.1:p.Lys709LeufsTer14
XM_011542843.1:c.2288_2289dup	XP_011541145.1:p.Lys764LeufsTer14
XM_011542844.1:c.1244_1245dup	XP_011541146.1:p.Lys416LeufsTer14
XM_011542845.1:c.980_981dup	XP_011541147.1:p.Lys328LeufsTer14
XM_011542846.1:c.2288_2289dup	XP_011541148.1:p.Lys764LeufsTer14
NM_001351834.1:c.2288_2289dup	NP_001338763.1:p.Lys764LeufsTer14
XM_005271562.5:c.2288_2289dup	XP_005271619.2:p.Lys764LeufsTer14
XM_006718843.4:c.2288_2289dup	XP_006718906.1:p.Lys764LeufsTer14
XM_011542840.3:c.2288_2289dup	XP_011541142.1:p.Lys764LeufsTer14
XM_011542842.3:c.2123_2124dup	XP_011541144.1:p.Lys709LeufsTer14
XM_011542843.2:c.2288_2289dup	XP_011541145.1:p.Lys764LeufsTer14
XM_011542844.3:c.1244_1245dup	XP_011541146.1:p.Lys416LeufsTer14
XM_011542845.2:c.980_981dup	XP_011541147.1:p.Lys328LeufsTer14
XM_017017789.2:c.2288_2289dup	XP_016873278.1:p.Lys764LeufsTer14
XM_017017790.2:c.2288_2289dup	XP_016873279.1:p.Lys764LeufsTer14
XM_017017791.1:c.2288_2289dup	XP_016873280.1:p.Lys764LeufsTer14
XM_017017792.2:c.2288_2289dup	XP_016873281.1:p.Lys764LeufsTer14
XR_002957150.1:n.3021_3022dup
NM_001351834.2:c.2288_2289dup	NP_001338763.1:p.Lys764LeufsTer14
NM_000051.4:c.2288_2289dup MANE Select	NP_000042.3:p.Lys764LeufsTer14