Canonical Allele Identifier: CA915947636

Gene: ATM

Linked Data

• ClinVar Variation Id: 825899
• ClinVar RCV Id: RCV001024413 ; RCV001384304 ; RCV004030851
• dbSNP Id: rs1591731851

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307912del , CM000673.2:g.108307912del	GRCh38
NC_000011.9:g.108178639del , CM000673.1:g.108178639del	GRCh37
NC_000011.8:g.107683849del	NCBI36
NG_009830.1:g.90081del , LRG_135:g.90081del
NG_054724.1:g.166925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5690del	ENSP00000388058.2:p.Phe1897SerfsTer20
ENST00000713593.1:c.*5161del	ENSP00000518889.1:n.*5161del
ENST00000278616.9:c.5690del	ENSP00000278616.4:p.Phe1897SerfsTer20
ENST00000525056.2:n.109del
ENST00000682286.1:n.447del
ENST00000682302.1:n.108del
ENST00000683174.1:n.7174del
ENST00000683524.1:n.914del
ENST00000684152.1:n.1404del
ENST00000527805.6:c.*754del	ENSP00000435747.2:n.*754del
ENST00000675595.1:c.*754del	ENSP00000502563.1:n.*754del
ENST00000675843.1:c.5690del MANE Select	ENSP00000501606.1:p.Phe1897SerfsTer20
ENST00000278616.8:c.5690del	ENSP00000278616.4:p.Phe1897SerfsTer20
ENST00000452508.6:c.5690del	ENSP00000388058.2:p.Phe1897SerfsTer20
ENST00000524792.5:n.1905del
ENST00000529588.5:c.187-2248del
ENST00000533690.5:n.1094del
NM_000051.3:c.5690del , LRG_135t1:c.5690del	NP_000042.3:p.Phe1897SerfsTer20
XM_005271561.3:c.5690del	XP_005271618.2:p.Phe1897SerfsTer20
XM_005271562.3:c.5690del	XP_005271619.2:p.Phe1897SerfsTer20
XM_006718843.2:c.5690del	XP_006718906.1:p.Phe1897SerfsTer20
XM_006718845.1:c.1646del	XP_006718908.1:p.Phe549SerfsTer20
XM_011542840.1:c.5690del	XP_011541142.1:p.Phe1897SerfsTer20
XM_011542841.1:c.5690del	XP_011541143.1:p.Phe1897SerfsTer20
XM_011542842.1:c.5525del	XP_011541144.1:p.Phe1842SerfsTer20
XM_011542843.1:c.5690del	XP_011541145.1:p.Phe1897SerfsTer20
XM_011542844.1:c.4646del	XP_011541146.1:p.Phe1549SerfsTer20
XM_011542845.1:c.4382del	XP_011541147.1:p.Phe1461SerfsTer20
XM_011542847.1:c.761del	XP_011541149.1:p.Phe254SerfsTer20
NM_001351834.1:c.5690del	NP_001338763.1:p.Phe1897SerfsTer20
XM_005271562.5:c.5690del	XP_005271619.2:p.Phe1897SerfsTer20
XM_006718843.4:c.5690del	XP_006718906.1:p.Phe1897SerfsTer20
XM_006718845.2:c.1646del	XP_006718908.1:p.Phe549SerfsTer20
XM_011542840.3:c.5690del	XP_011541142.1:p.Phe1897SerfsTer20
XM_011542842.3:c.5525del	XP_011541144.1:p.Phe1842SerfsTer20
XM_011542843.2:c.5690del	XP_011541145.1:p.Phe1897SerfsTer20
XM_011542844.3:c.4646del	XP_011541146.1:p.Phe1549SerfsTer20
XM_011542845.2:c.4382del	XP_011541147.1:p.Phe1461SerfsTer20
XM_017017789.2:c.5690del	XP_016873278.1:p.Phe1897SerfsTer20
XM_017017790.2:c.5690del	XP_016873279.1:p.Phe1897SerfsTer20
XM_017017791.1:c.5690del	XP_016873280.1:p.Phe1897SerfsTer20
XR_002957150.1:n.6290del
NM_001351834.2:c.5690del	NP_001338763.1:p.Phe1897SerfsTer20
NM_000051.4:c.5690del MANE Select	NP_000042.3:p.Phe1897SerfsTer20