Canonical Allele Identifier: CA2739270920

Gene: ATM

Linked Data

• ClinVar Variation Id: 2818959
• ClinVar RCV Id: RCV003606272

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304720_108304722del , CM000673.2:g.108304720_108304722del	GRCh38
NC_000011.9:g.108175447_108175449del , CM000673.1:g.108175447_108175449del	GRCh37
NC_000011.8:g.107680657_107680659del	NCBI36
NG_009830.1:g.86889_86891del , LRG_135:g.86889_86891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5542_5544del	ENSP00000388058.2:p.Asp1848del
ENST00000713593.1:c.*5013_*5015del	ENSP00000518889.1:n.*5013_*5015del
ENST00000278616.9:c.5542_5544del	ENSP00000278616.4:p.Asp1848del
ENST00000683174.1:n.7026_7028del
ENST00000683524.1:n.766_768del
ENST00000684152.1:n.1256_1258del
ENST00000527805.6:c.*606_*608del	ENSP00000435747.2:n.*606_*608del
ENST00000675595.1:c.*606_*608del	ENSP00000502563.1:n.*606_*608del
ENST00000675843.1:c.5542_5544del MANE Select	ENSP00000501606.1:p.Asp1848del
ENST00000278616.8:c.5542_5544del	ENSP00000278616.4:p.Asp1848del
ENST00000452508.6:c.5542_5544del	ENSP00000388058.2:p.Asp1848del
ENST00000524792.5:n.1757_1759del
ENST00000529588.5:c.54_56del
ENST00000533690.5:n.946_948del
NM_000051.3:c.5542_5544del , LRG_135t1:c.5542_5544del	NP_000042.3:p.Asp1848del
XM_005271561.3:c.5542_5544del	XP_005271618.2:p.Asp1848del
XM_005271562.3:c.5542_5544del	XP_005271619.2:p.Asp1848del
XM_006718843.2:c.5542_5544del	XP_006718906.1:p.Asp1848del
XM_006718845.1:c.1498_1500del	XP_006718908.1:p.Asp500del
XM_011542840.1:c.5542_5544del	XP_011541142.1:p.Asp1848del
XM_011542841.1:c.5542_5544del	XP_011541143.1:p.Asp1848del
XM_011542842.1:c.5377_5379del	XP_011541144.1:p.Asp1793del
XM_011542843.1:c.5542_5544del	XP_011541145.1:p.Asp1848del
XM_011542844.1:c.4498_4500del	XP_011541146.1:p.Asp1500del
XM_011542845.1:c.4234_4236del	XP_011541147.1:p.Asp1412del
XM_011542847.1:c.613_615del	XP_011541149.1:p.Asp205del
NM_001351834.1:c.5542_5544del	NP_001338763.1:p.Asp1848del
XM_005271562.5:c.5542_5544del	XP_005271619.2:p.Asp1848del
XM_006718843.4:c.5542_5544del	XP_006718906.1:p.Asp1848del
XM_006718845.2:c.1498_1500del	XP_006718908.1:p.Asp500del
XM_011542840.3:c.5542_5544del	XP_011541142.1:p.Asp1848del
XM_011542842.3:c.5377_5379del	XP_011541144.1:p.Asp1793del
XM_011542843.2:c.5542_5544del	XP_011541145.1:p.Asp1848del
XM_011542844.3:c.4498_4500del	XP_011541146.1:p.Asp1500del
XM_011542845.2:c.4234_4236del	XP_011541147.1:p.Asp1412del
XM_017017789.2:c.5542_5544del	XP_016873278.1:p.Asp1848del
XM_017017790.2:c.5542_5544del	XP_016873279.1:p.Asp1848del
XM_017017791.1:c.5542_5544del	XP_016873280.1:p.Asp1848del
XR_002957150.1:n.6142_6144del
NM_001351834.2:c.5542_5544del	NP_001338763.1:p.Asp1848del
NM_000051.4:c.5542_5544del MANE Select	NP_000042.3:p.Asp1848del