Canonical Allele Identifier: CA10579271

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 229805
• ClinVar RCV Id: RCV000221185 ; RCV000542754
• dbSNP Id: rs876658208
• gnomAD v4: 11-108332819-A-G
• MyVariant Identifiers: chr11:g.108203546A>G (hg19) ; chr11:g.108332819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332819A>G , CM000673.2:g.108332819A>G	GRCh38
NC_000011.9:g.108203546A>G , CM000673.1:g.108203546A>G	GRCh37
NC_000011.8:g.107708756A>G	NCBI36
NG_009830.1:g.114988A>G , LRG_135:g.114988A>G
NG_054724.1:g.142014T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7846A>G (ATM)	ENSP00000388058.2:p.Met2616Val
ENST00000713593.1:c.*7317A>G (ATM)	ENSP00000518889.1:n.*7317A>G
ENST00000278616.9:c.7846A>G (ATM)	ENSP00000278616.4:p.Met2616Val
ENST00000525056.2:n.2265A>G (ATM)
ENST00000525537.3:n.1527A>G (ATM)
ENST00000638786.2:n.625+782A>G (ATM)
ENST00000682286.1:n.2603A>G (ATM)
ENST00000682302.1:n.2264A>G (ATM)
ENST00000683174.1:n.9330A>G (ATM)
ENST00000683524.1:n.3070A>G (ATM)
ENST00000684152.1:n.3344-1067A>G (ATM)
ENST00000684180.1:n.320A>G (ATM)
ENST00000684447.1:n.3354A>G (ATM)
ENST00000527805.6:c.*2910A>G (ATM)	ENSP00000435747.2:n.*2910A>G
ENST00000675595.1:c.*2981A>G (ATM)	ENSP00000502563.1:n.*2981A>G
ENST00000675843.1:c.7846A>G (ATM) MANE Select	ENSP00000501606.1:p.Met2616Val
ENST00000278616.8:c.7846A>G (ATM)	ENSP00000278616.4:p.Met2616Val
ENST00000452508.6:c.7846A>G (ATM)	ENSP00000388058.2:p.Met2616Val
ENST00000524755.5:c.300-1252T>C (C11orf65)
ENST00000524792.5:n.4061A>G (ATM)
ENST00000525056.1:n.43A>G (ATM)
ENST00000525729.5:c.641-23748T>C (C11orf65)	ENSP00000433395.1:n.641-23748T>C
ENST00000527531.5:c.*1270-1252T>C (C11orf65)	ENSP00000431706.1:n.*1270-1252T>C
ENST00000533690.5:n.3250A>G (ATM)
ENST00000533979.5:n.58A>G (ATM)
ENST00000615746.4:c.*1270-1252T>C (C11orf65)	ENSP00000483537.1:n.*1270-1252T>C
NM_000051.3:c.7846A>G , LRG_135t1:c.7846A>G (ATM)	NP_000042.3:p.Met2616Val
XM_005271414.3:c.*39-1252T>C (C11orf65)	XP_005271471.1:n.*39-1252T>C
XM_005271415.3:c.805-1252T>C (C11orf65)	XP_005271472.1:n.805-1252T>C
XM_005271561.3:c.7846A>G (ATM)	XP_005271618.2:p.Met2616Val
XM_005271562.3:c.7846A>G (ATM)	XP_005271619.2:p.Met2616Val
XM_006718843.2:c.7846A>G (ATM)	XP_006718906.1:p.Met2616Val
XM_006718845.1:c.3802A>G (ATM)	XP_006718908.1:p.Met1268Val
XM_011542840.1:c.7846A>G (ATM)	XP_011541142.1:p.Met2616Val
XM_011542841.1:c.7846A>G (ATM)	XP_011541143.1:p.Met2616Val
XM_011542842.1:c.7681A>G (ATM)	XP_011541144.1:p.Met2561Val
XM_011542843.1:c.7846A>G (ATM)	XP_011541145.1:p.Met2616Val
XM_011542844.1:c.6802A>G (ATM)	XP_011541146.1:p.Met2268Val
XM_011542845.1:c.6538A>G (ATM)	XP_011541147.1:p.Met2180Val
XM_011542847.1:c.2917A>G (ATM)	XP_011541149.1:p.Met973Val
NM_001330368.1:c.641-23748T>C (C11orf65)	NP_001317297.1:n.641-23748T>C
NM_001351110.1:c.*38+2401T>C (C11orf65)	NP_001338039.1:n.*38+2401T>C
NM_001351834.1:c.7846A>G (ATM)	NP_001338763.1:p.Met2616Val
NR_147053.2:n.2375-1252T>C (C11orf65)
XM_005271414.4:c.*39-1252T>C (C11orf65)	XP_005271471.1:n.*39-1252T>C
XM_005271415.4:c.805-1252T>C (C11orf65)	XP_005271472.1:n.805-1252T>C
XM_005271562.5:c.7846A>G (ATM)	XP_005271619.2:p.Met2616Val
XM_006718843.4:c.7846A>G (ATM)	XP_006718906.1:p.Met2616Val
XM_006718845.2:c.3802A>G (ATM)	XP_006718908.1:p.Met1268Val
XM_011542840.3:c.7846A>G (ATM)	XP_011541142.1:p.Met2616Val
XM_011542842.3:c.7681A>G (ATM)	XP_011541144.1:p.Met2561Val
XM_011542843.2:c.7846A>G (ATM)	XP_011541145.1:p.Met2616Val
XM_011542844.3:c.6802A>G (ATM)	XP_011541146.1:p.Met2268Val
XM_011542845.2:c.6538A>G (ATM)	XP_011541147.1:p.Met2180Val
XM_017017789.2:c.7846A>G (ATM)	XP_016873278.1:p.Met2616Val
XM_017017790.2:c.7846A>G (ATM)	XP_016873279.1:p.Met2616Val
NM_001330368.2:c.641-23748T>C (C11orf65)	NP_001317297.1:n.641-23748T>C
NM_001351110.2:c.*38+2401T>C (C11orf65)	NP_001338039.1:n.*38+2401T>C
NM_001351834.2:c.7846A>G (ATM)	NP_001338763.1:p.Met2616Val
NM_000051.4:c.7846A>G (ATM) MANE Select	NP_000042.3:p.Met2616Val
NR_147053.3:n.2373-1252T>C (C11orf65)