Canonical Allele Identifier: CA2573146690

Gene: ATM

Linked Data

• ClinVar Variation Id: 1367365
• ClinVar RCV Id: RCV001947261
• dbSNP Id: rs2135977126

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307945del , CM000673.2:g.108307945del	GRCh38
NC_000011.9:g.108178672del , CM000673.1:g.108178672del	GRCh37
NC_000011.8:g.107683882del	NCBI36
NG_009830.1:g.90114del , LRG_135:g.90114del
NG_054724.1:g.166888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5723del	ENSP00000388058.2:p.Thr1908LysfsTer9
ENST00000713593.1:c.*5194del	ENSP00000518889.1:n.*5194del
ENST00000278616.9:c.5723del	ENSP00000278616.4:p.Thr1908LysfsTer9
ENST00000525056.2:n.142del
ENST00000682286.1:n.480del
ENST00000682302.1:n.141del
ENST00000683174.1:n.7207del
ENST00000683524.1:n.947del
ENST00000684152.1:n.1437del
ENST00000527805.6:c.*787del	ENSP00000435747.2:n.*787del
ENST00000675595.1:c.*787del	ENSP00000502563.1:n.*787del
ENST00000675843.1:c.5723del MANE Select	ENSP00000501606.1:p.Thr1908LysfsTer9
ENST00000278616.8:c.5723del	ENSP00000278616.4:p.Thr1908LysfsTer9
ENST00000452508.6:c.5723del	ENSP00000388058.2:p.Thr1908LysfsTer9
ENST00000524792.5:n.1938del
ENST00000529588.5:c.187-2215del
ENST00000533690.5:n.1127del
NM_000051.3:c.5723del , LRG_135t1:c.5723del	NP_000042.3:p.Thr1908LysfsTer9
XM_005271561.3:c.5723del	XP_005271618.2:p.Thr1908LysfsTer9
XM_005271562.3:c.5723del	XP_005271619.2:p.Thr1908LysfsTer9
XM_006718843.2:c.5723del	XP_006718906.1:p.Thr1908LysfsTer9
XM_006718845.1:c.1679del	XP_006718908.1:p.Thr560LysfsTer9
XM_011542840.1:c.5723del	XP_011541142.1:p.Thr1908LysfsTer9
XM_011542841.1:c.5723del	XP_011541143.1:p.Thr1908LysfsTer9
XM_011542842.1:c.5558del	XP_011541144.1:p.Thr1853LysfsTer9
XM_011542843.1:c.5723del	XP_011541145.1:p.Thr1908LysfsTer9
XM_011542844.1:c.4679del	XP_011541146.1:p.Thr1560LysfsTer9
XM_011542845.1:c.4415del	XP_011541147.1:p.Thr1472LysfsTer9
XM_011542847.1:c.794del	XP_011541149.1:p.Thr265LysfsTer9
NM_001351834.1:c.5723del	NP_001338763.1:p.Thr1908LysfsTer9
XM_005271562.5:c.5723del	XP_005271619.2:p.Thr1908LysfsTer9
XM_006718843.4:c.5723del	XP_006718906.1:p.Thr1908LysfsTer9
XM_006718845.2:c.1679del	XP_006718908.1:p.Thr560LysfsTer9
XM_011542840.3:c.5723del	XP_011541142.1:p.Thr1908LysfsTer9
XM_011542842.3:c.5558del	XP_011541144.1:p.Thr1853LysfsTer9
XM_011542843.2:c.5723del	XP_011541145.1:p.Thr1908LysfsTer9
XM_011542844.3:c.4679del	XP_011541146.1:p.Thr1560LysfsTer9
XM_011542845.2:c.4415del	XP_011541147.1:p.Thr1472LysfsTer9
XM_017017789.2:c.5723del	XP_016873278.1:p.Thr1908LysfsTer9
XM_017017790.2:c.5723del	XP_016873279.1:p.Thr1908LysfsTer9
XM_017017791.1:c.5723del	XP_016873280.1:p.Thr1908LysfsTer9
XR_002957150.1:n.6323del
NM_001351834.2:c.5723del	NP_001338763.1:p.Thr1908LysfsTer9
NM_000051.4:c.5723del MANE Select	NP_000042.3:p.Thr1908LysfsTer9