Canonical Allele Identifier: CA294446

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 135765
• ClinVar RCV Id: RCV000122869 ; RCV000212041 ; RCV000131768 ; RCV000779793
• dbSNP Id: rs376521407
• gnomAD v4: 11-108316094-G-A
• COSMIC: COSM272367 ; COSM6007782
• MyVariant Identifiers: chr11:g.108186821G>A (hg19) ; chr11:g.108316094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316094G>A , CM000673.2:g.108316094G>A	GRCh38
NC_000011.9:g.108186821G>A , CM000673.1:g.108186821G>A	GRCh37
NC_000011.8:g.107692031G>A	NCBI36
NG_009830.1:g.98263G>A , LRG_135:g.98263G>A
NG_054724.1:g.158739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6179G>A (ATM)	ENSP00000388058.2:p.Arg2060His
ENST00000713593.1:c.*5650G>A (ATM)	ENSP00000518889.1:n.*5650G>A
ENST00000278616.9:c.6179G>A (ATM)	ENSP00000278616.4:p.Arg2060His
ENST00000525056.2:n.598G>A (ATM)
ENST00000682286.1:n.936G>A (ATM)
ENST00000682302.1:n.597G>A (ATM)
ENST00000683174.1:n.7663G>A (ATM)
ENST00000683524.1:n.1403G>A (ATM)
ENST00000684152.1:n.1893G>A (ATM)
ENST00000527805.6:c.*1243G>A (ATM)	ENSP00000435747.2:n.*1243G>A
ENST00000675595.1:c.*1243G>A (ATM)	ENSP00000502563.1:n.*1243G>A
ENST00000675843.1:c.6179G>A (ATM) MANE Select	ENSP00000501606.1:p.Arg2060His
ENST00000278616.8:c.6179G>A (ATM)	ENSP00000278616.4:p.Arg2060His
ENST00000452508.6:c.6179G>A (ATM)	ENSP00000388058.2:p.Arg2060His
ENST00000524792.5:n.2394G>A (ATM)
ENST00000525729.5:c.641-7023C>T (C11orf65)	ENSP00000433395.1:n.641-7023C>T
ENST00000532765.1:n.496G>A (ATM)
ENST00000533690.5:n.1583G>A (ATM)
NM_000051.3:c.6179G>A , LRG_135t1:c.6179G>A (ATM)	NP_000042.3:p.Arg2060His
XM_005271561.3:c.6179G>A (ATM)	XP_005271618.2:p.Arg2060His
XM_005271562.3:c.6179G>A (ATM)	XP_005271619.2:p.Arg2060His
XM_006718843.2:c.6179G>A (ATM)	XP_006718906.1:p.Arg2060His
XM_006718845.1:c.2135G>A (ATM)	XP_006718908.1:p.Arg712His
XM_011542840.1:c.6179G>A (ATM)	XP_011541142.1:p.Arg2060His
XM_011542841.1:c.6179G>A (ATM)	XP_011541143.1:p.Arg2060His
XM_011542842.1:c.6014G>A (ATM)	XP_011541144.1:p.Arg2005His
XM_011542843.1:c.6179G>A (ATM)	XP_011541145.1:p.Arg2060His
XM_011542844.1:c.5135G>A (ATM)	XP_011541146.1:p.Arg1712His
XM_011542845.1:c.4871G>A (ATM)	XP_011541147.1:p.Arg1624His
XM_011542847.1:c.1250G>A (ATM)	XP_011541149.1:p.Arg417His
NM_001330368.1:c.641-7023C>T (C11orf65)	NP_001317297.1:n.641-7023C>T
NM_001351110.1:c.*39-7023C>T (C11orf65)	NP_001338039.1:n.*39-7023C>T
NM_001351834.1:c.6179G>A (ATM)	NP_001338763.1:p.Arg2060His
XM_005271562.5:c.6179G>A (ATM)	XP_005271619.2:p.Arg2060His
XM_006718843.4:c.6179G>A (ATM)	XP_006718906.1:p.Arg2060His
XM_006718845.2:c.2135G>A (ATM)	XP_006718908.1:p.Arg712His
XM_011542840.3:c.6179G>A (ATM)	XP_011541142.1:p.Arg2060His
XM_011542842.3:c.6014G>A (ATM)	XP_011541144.1:p.Arg2005His
XM_011542843.2:c.6179G>A (ATM)	XP_011541145.1:p.Arg2060His
XM_011542844.3:c.5135G>A (ATM)	XP_011541146.1:p.Arg1712His
XM_011542845.2:c.4871G>A (ATM)	XP_011541147.1:p.Arg1624His
XM_017017789.2:c.6179G>A (ATM)	XP_016873278.1:p.Arg2060His
XM_017017790.2:c.6179G>A (ATM)	XP_016873279.1:p.Arg2060His
XM_017017791.1:c.6179G>A (ATM)	XP_016873280.1:p.Arg2060His
NM_001330368.2:c.641-7023C>T (C11orf65)	NP_001317297.1:n.641-7023C>T
NM_001351110.2:c.*39-7023C>T (C11orf65)	NP_001338039.1:n.*39-7023C>T
NM_001351834.2:c.6179G>A (ATM)	NP_001338763.1:p.Arg2060His
NM_000051.4:c.6179G>A (ATM) MANE Select	NP_000042.3:p.Arg2060His