Canonical Allele Identifier: CA915947654

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 654478
• ClinVar RCV Id: RCV000810450 ; RCV004549887 ; RCV004028700 ; RCV002352404
• dbSNP Id: rs1591779373

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316092dup , CM000673.2:g.108316092dup	GRCh38
NC_000011.9:g.108186819dup , CM000673.1:g.108186819dup	GRCh37
NC_000011.8:g.107692029dup	NCBI36
NG_009830.1:g.98261dup , LRG_135:g.98261dup
NG_054724.1:g.158741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6177dup (ATM)	ENSP00000388058.2:p.Arg2060ThrfsTer28
ENST00000713593.1:c.*5648dup (ATM)	ENSP00000518889.1:n.*5648dup
ENST00000278616.9:c.6177dup (ATM)	ENSP00000278616.4:p.Arg2060ThrfsTer28
ENST00000525056.2:n.596dup (ATM)
ENST00000682286.1:n.934dup (ATM)
ENST00000682302.1:n.595dup (ATM)
ENST00000683174.1:n.7661dup (ATM)
ENST00000683524.1:n.1401dup (ATM)
ENST00000684152.1:n.1891dup (ATM)
ENST00000527805.6:c.*1241dup (ATM)	ENSP00000435747.2:n.*1241dup
ENST00000675595.1:c.*1241dup (ATM)	ENSP00000502563.1:n.*1241dup
ENST00000675843.1:c.6177dup (ATM) MANE Select	ENSP00000501606.1:p.Arg2060ThrfsTer28
ENST00000278616.8:c.6177dup (ATM)	ENSP00000278616.4:p.Arg2060ThrfsTer28
ENST00000452508.6:c.6177dup (ATM)	ENSP00000388058.2:p.Arg2060ThrfsTer28
ENST00000524792.5:n.2392dup (ATM)
ENST00000525729.5:c.641-7021dup (C11orf65)	ENSP00000433395.1:n.641-7021dup
ENST00000532765.1:n.494dup (ATM)
ENST00000533690.5:n.1581dup (ATM)
NM_000051.3:c.6177dup , LRG_135t1:c.6177dup (ATM)	NP_000042.3:p.Arg2060ThrfsTer28
XM_005271561.3:c.6177dup (ATM)	XP_005271618.2:p.Arg2060ThrfsTer28
XM_005271562.3:c.6177dup (ATM)	XP_005271619.2:p.Arg2060ThrfsTer28
XM_006718843.2:c.6177dup (ATM)	XP_006718906.1:p.Arg2060ThrfsTer28
XM_006718845.1:c.2133dup (ATM)	XP_006718908.1:p.Arg712ThrfsTer28
XM_011542840.1:c.6177dup (ATM)	XP_011541142.1:p.Arg2060ThrfsTer28
XM_011542841.1:c.6177dup (ATM)	XP_011541143.1:p.Arg2060ThrfsTer28
XM_011542842.1:c.6012dup (ATM)	XP_011541144.1:p.Arg2005ThrfsTer28
XM_011542843.1:c.6177dup (ATM)	XP_011541145.1:p.Arg2060ThrfsTer28
XM_011542844.1:c.5133dup (ATM)	XP_011541146.1:p.Arg1712ThrfsTer28
XM_011542845.1:c.4869dup (ATM)	XP_011541147.1:p.Arg1624ThrfsTer28
XM_011542847.1:c.1248dup (ATM)	XP_011541149.1:p.Arg417ThrfsTer28
NM_001330368.1:c.641-7021dup (C11orf65)	NP_001317297.1:n.641-7021dup
NM_001351110.1:c.*39-7021dup (C11orf65)	NP_001338039.1:n.*39-7021dup
NM_001351834.1:c.6177dup (ATM)	NP_001338763.1:p.Arg2060ThrfsTer28
XM_005271562.5:c.6177dup (ATM)	XP_005271619.2:p.Arg2060ThrfsTer28
XM_006718843.4:c.6177dup (ATM)	XP_006718906.1:p.Arg2060ThrfsTer28
XM_006718845.2:c.2133dup (ATM)	XP_006718908.1:p.Arg712ThrfsTer28
XM_011542840.3:c.6177dup (ATM)	XP_011541142.1:p.Arg2060ThrfsTer28
XM_011542842.3:c.6012dup (ATM)	XP_011541144.1:p.Arg2005ThrfsTer28
XM_011542843.2:c.6177dup (ATM)	XP_011541145.1:p.Arg2060ThrfsTer28
XM_011542844.3:c.5133dup (ATM)	XP_011541146.1:p.Arg1712ThrfsTer28
XM_011542845.2:c.4869dup (ATM)	XP_011541147.1:p.Arg1624ThrfsTer28
XM_017017789.2:c.6177dup (ATM)	XP_016873278.1:p.Arg2060ThrfsTer28
XM_017017790.2:c.6177dup (ATM)	XP_016873279.1:p.Arg2060ThrfsTer28
XM_017017791.1:c.6177dup (ATM)	XP_016873280.1:p.Arg2060ThrfsTer28
NM_001330368.2:c.641-7021dup (C11orf65)	NP_001317297.1:n.641-7021dup
NM_001351110.2:c.*39-7021dup (C11orf65)	NP_001338039.1:n.*39-7021dup
NM_001351834.2:c.6177dup (ATM)	NP_001338763.1:p.Arg2060ThrfsTer28
NM_000051.4:c.6177dup (ATM) MANE Select	NP_000042.3:p.Arg2060ThrfsTer28