Canonical Allele Identifier: CA645569733

Gene: ATM

Linked Data

• COSMIC: COSM5837741 ; COSM5837742

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302859_108302860del , CM000673.2:g.108302859_108302860del	GRCh38
NC_000011.9:g.108173586_108173587del , CM000673.1:g.108173586_108173587del	GRCh37
NC_000011.8:g.107678796_107678797del	NCBI36
NG_009830.1:g.85028_85029del , LRG_135:g.85028_85029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5326_5327del	ENSP00000388058.2:p.Glu1776SerfsTer5
ENST00000713593.1:c.*4797_*4798del	ENSP00000518889.1:n.*4797_*4798del
ENST00000278616.9:c.5326_5327del	ENSP00000278616.4:p.Glu1776SerfsTer5
ENST00000683174.1:n.6810_6811del
ENST00000683524.1:n.550_551del
ENST00000684152.1:n.1040_1041del
ENST00000527805.6:c.*390_*391del	ENSP00000435747.2:n.*390_*391del
ENST00000675595.1:c.*390_*391del	ENSP00000502563.1:n.*390_*391del
ENST00000675843.1:c.5326_5327del MANE Select	ENSP00000501606.1:p.Glu1776SerfsTer5
ENST00000278616.8:c.5326_5327del	ENSP00000278616.4:p.Glu1776SerfsTer5
ENST00000452508.6:c.5326_5327del	ENSP00000388058.2:p.Glu1776SerfsTer5
ENST00000524792.5:n.1541_1542del
ENST00000533690.5:n.730_731del
ENST00000534625.1:n.555_556del
NM_000051.3:c.5326_5327del , LRG_135t1:c.5326_5327del	NP_000042.3:p.Glu1776SerfsTer5
XM_005271561.3:c.5326_5327del	XP_005271618.2:p.Glu1776SerfsTer5
XM_005271562.3:c.5326_5327del	XP_005271619.2:p.Glu1776SerfsTer5
XM_006718843.2:c.5326_5327del	XP_006718906.1:p.Glu1776SerfsTer5
XM_006718845.1:c.1282_1283del	XP_006718908.1:p.Glu428SerfsTer5
XM_011542840.1:c.5326_5327del	XP_011541142.1:p.Glu1776SerfsTer5
XM_011542841.1:c.5326_5327del	XP_011541143.1:p.Glu1776SerfsTer5
XM_011542842.1:c.5161_5162del	XP_011541144.1:p.Glu1721SerfsTer5
XM_011542843.1:c.5326_5327del	XP_011541145.1:p.Glu1776SerfsTer5
XM_011542844.1:c.4282_4283del	XP_011541146.1:p.Glu1428SerfsTer5
XM_011542845.1:c.4018_4019del	XP_011541147.1:p.Glu1340SerfsTer5
XM_011542846.1:c.5327_5328del	XP_011541148.1:p.Arg1776LysfsTer17
XM_011542847.1:c.397_398del	XP_011541149.1:p.Glu133SerfsTer5
NM_001351834.1:c.5326_5327del	NP_001338763.1:p.Glu1776SerfsTer5
XM_005271562.5:c.5326_5327del	XP_005271619.2:p.Glu1776SerfsTer5
XM_006718843.4:c.5326_5327del	XP_006718906.1:p.Glu1776SerfsTer5
XM_006718845.2:c.1282_1283del	XP_006718908.1:p.Glu428SerfsTer5
XM_011542840.3:c.5326_5327del	XP_011541142.1:p.Glu1776SerfsTer5
XM_011542842.3:c.5161_5162del	XP_011541144.1:p.Glu1721SerfsTer5
XM_011542843.2:c.5326_5327del	XP_011541145.1:p.Glu1776SerfsTer5
XM_011542844.3:c.4282_4283del	XP_011541146.1:p.Glu1428SerfsTer5
XM_011542845.2:c.4018_4019del	XP_011541147.1:p.Glu1340SerfsTer5
XM_017017789.2:c.5326_5327del	XP_016873278.1:p.Glu1776SerfsTer5
XM_017017790.2:c.5326_5327del	XP_016873279.1:p.Glu1776SerfsTer5
XM_017017791.1:c.5326_5327del	XP_016873280.1:p.Glu1776SerfsTer5
XM_017017792.2:c.*7_*8del	XP_016873281.1:n.*7_*8del
XR_002957150.1:n.5926_5927del
NM_001351834.2:c.5326_5327del	NP_001338763.1:p.Glu1776SerfsTer5
NM_000051.4:c.5326_5327del MANE Select	NP_000042.3:p.Glu1776SerfsTer5