Canonical Allele Identifier: CA2580615043

Gene: ATM

Linked Data

• ClinVar Variation Id: 2568151
• ClinVar RCV Id: RCV003297564

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304683del , CM000673.2:g.108304683del	GRCh38
NC_000011.9:g.108175410del , CM000673.1:g.108175410del	GRCh37
NC_000011.8:g.107680620del	NCBI36
NG_009830.1:g.86852del , LRG_135:g.86852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5505del	ENSP00000388058.2:p.Asp1836ThrfsTer10
ENST00000713593.1:c.*4976del	ENSP00000518889.1:n.*4976del
ENST00000278616.9:c.5505del	ENSP00000278616.4:p.Asp1836ThrfsTer10
ENST00000683174.1:n.6989del
ENST00000683524.1:n.729del
ENST00000684152.1:n.1219del
ENST00000527805.6:c.*569del	ENSP00000435747.2:n.*569del
ENST00000675595.1:c.*569del	ENSP00000502563.1:n.*569del
ENST00000675843.1:c.5505del MANE Select	ENSP00000501606.1:p.Asp1836ThrfsTer10
ENST00000278616.8:c.5505del	ENSP00000278616.4:p.Asp1836ThrfsTer10
ENST00000452508.6:c.5505del	ENSP00000388058.2:p.Asp1836ThrfsTer10
ENST00000524792.5:n.1720del
ENST00000529588.5:c.17del
ENST00000533690.5:n.909del
NM_000051.3:c.5505del , LRG_135t1:c.5505del	NP_000042.3:p.Asp1836ThrfsTer10
XM_005271561.3:c.5505del	XP_005271618.2:p.Asp1836ThrfsTer10
XM_005271562.3:c.5505del	XP_005271619.2:p.Asp1836ThrfsTer10
XM_006718843.2:c.5505del	XP_006718906.1:p.Asp1836ThrfsTer10
XM_006718845.1:c.1461del	XP_006718908.1:p.Asp488ThrfsTer10
XM_011542840.1:c.5505del	XP_011541142.1:p.Asp1836ThrfsTer10
XM_011542841.1:c.5505del	XP_011541143.1:p.Asp1836ThrfsTer10
XM_011542842.1:c.5340del	XP_011541144.1:p.Asp1781ThrfsTer10
XM_011542843.1:c.5505del	XP_011541145.1:p.Asp1836ThrfsTer10
XM_011542844.1:c.4461del	XP_011541146.1:p.Asp1488ThrfsTer10
XM_011542845.1:c.4197del	XP_011541147.1:p.Asp1400ThrfsTer10
XM_011542847.1:c.576del	XP_011541149.1:p.Asp193ThrfsTer10
NM_001351834.1:c.5505del	NP_001338763.1:p.Asp1836ThrfsTer10
XM_005271562.5:c.5505del	XP_005271619.2:p.Asp1836ThrfsTer10
XM_006718843.4:c.5505del	XP_006718906.1:p.Asp1836ThrfsTer10
XM_006718845.2:c.1461del	XP_006718908.1:p.Asp488ThrfsTer10
XM_011542840.3:c.5505del	XP_011541142.1:p.Asp1836ThrfsTer10
XM_011542842.3:c.5340del	XP_011541144.1:p.Asp1781ThrfsTer10
XM_011542843.2:c.5505del	XP_011541145.1:p.Asp1836ThrfsTer10
XM_011542844.3:c.4461del	XP_011541146.1:p.Asp1488ThrfsTer10
XM_011542845.2:c.4197del	XP_011541147.1:p.Asp1400ThrfsTer10
XM_017017789.2:c.5505del	XP_016873278.1:p.Asp1836ThrfsTer10
XM_017017790.2:c.5505del	XP_016873279.1:p.Asp1836ThrfsTer10
XM_017017791.1:c.5505del	XP_016873280.1:p.Asp1836ThrfsTer10
XR_002957150.1:n.6105del
NM_001351834.2:c.5505del	NP_001338763.1:p.Asp1836ThrfsTer10
NM_000051.4:c.5505del MANE Select	NP_000042.3:p.Asp1836ThrfsTer10