Canonical Allele Identifier: CA382548258

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108309067-T-C
• MyVariant Identifiers: chr11:g.108179794T>C (hg19) ; chr11:g.108309067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108309067T>C , CM000673.2:g.108309067T>C	GRCh38
NC_000011.9:g.108179794T>C , CM000673.1:g.108179794T>C	GRCh37
NC_000011.8:g.107685004T>C	NCBI36
NG_009830.1:g.91236T>C , LRG_135:g.91236T>C
NG_054724.1:g.165766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5762+1083T>C (ATM)	ENSP00000388058.2:n.5762+1083T>C
ENST00000713593.1:c.*5233+1083T>C (ATM)	ENSP00000518889.1:n.*5233+1083T>C
ENST00000278616.9:c.5762+1083T>C (ATM)	ENSP00000278616.4:n.5762+1083T>C
ENST00000525056.2:n.181+1083T>C (ATM)
ENST00000682286.1:n.519+1083T>C (ATM)
ENST00000682302.1:n.180+1083T>C (ATM)
ENST00000683174.1:n.7246+1083T>C (ATM)
ENST00000683524.1:n.986+1083T>C (ATM)
ENST00000684152.1:n.1476+1083T>C (ATM)
ENST00000527805.6:c.*826+1083T>C (ATM)	ENSP00000435747.2:n.*826+1083T>C
ENST00000675595.1:c.*826+1083T>C (ATM)	ENSP00000502563.1:n.*826+1083T>C
ENST00000675843.1:c.5762+1083T>C (ATM) MANE Select	ENSP00000501606.1:n.5762+1083T>C
ENST00000278616.8:c.5762+1083T>C (ATM)	ENSP00000278616.4:n.5762+1083T>C
ENST00000452508.6:c.5762+1083T>C (ATM)	ENSP00000388058.2:n.5762+1083T>C
ENST00000524792.5:n.1977+1083T>C (ATM)
ENST00000525729.5:c.645A>G (C11orf65)	ENSP00000433395.1:p.Ile215Met
ENST00000529588.5:c.187-1093T>C (ATM)
ENST00000532765.1:n.79+997T>C (ATM)
ENST00000533690.5:n.1166+1083T>C (ATM)
NM_000051.3:c.5762+1083T>C , LRG_135t1:c.5762+1083T>C (ATM)	NP_000042.3:n.5762+1083T>C
XM_005271561.3:c.5762+1083T>C (ATM)	XP_005271618.2:n.5762+1083T>C
XM_005271562.3:c.5762+1083T>C (ATM)	XP_005271619.2:n.5762+1083T>C
XM_006718843.2:c.5762+1083T>C (ATM)	XP_006718906.1:n.5762+1083T>C
XM_006718845.1:c.1718+1083T>C (ATM)	XP_006718908.1:n.1718+1083T>C
XM_011542840.1:c.5762+1083T>C (ATM)	XP_011541142.1:n.5762+1083T>C
XM_011542841.1:c.5762+1083T>C (ATM)	XP_011541143.1:n.5762+1083T>C
XM_011542842.1:c.5597+1083T>C (ATM)	XP_011541144.1:n.5597+1083T>C
XM_011542843.1:c.5762+1083T>C (ATM)	XP_011541145.1:n.5762+1083T>C
XM_011542844.1:c.4718+1083T>C (ATM)	XP_011541146.1:n.4718+1083T>C
XM_011542845.1:c.4454+1083T>C (ATM)	XP_011541147.1:n.4454+1083T>C
XM_011542847.1:c.833+1083T>C (ATM)	XP_011541149.1:n.833+1083T>C
NM_001330368.1:c.645A>G (C11orf65)	NP_001317297.1:p.Ile215Met
NM_001351110.1:c.*43A>G (C11orf65)	NP_001338039.1:n.*43A>G
NM_001351834.1:c.5762+1083T>C (ATM)	NP_001338763.1:n.5762+1083T>C
XM_005271562.5:c.5762+1083T>C (ATM)	XP_005271619.2:n.5762+1083T>C
XM_006718843.4:c.5762+1083T>C (ATM)	XP_006718906.1:n.5762+1083T>C
XM_006718845.2:c.1718+1083T>C (ATM)	XP_006718908.1:n.1718+1083T>C
XM_011542840.3:c.5762+1083T>C (ATM)	XP_011541142.1:n.5762+1083T>C
XM_011542842.3:c.5597+1083T>C (ATM)	XP_011541144.1:n.5597+1083T>C
XM_011542843.2:c.5762+1083T>C (ATM)	XP_011541145.1:n.5762+1083T>C
XM_011542844.3:c.4718+1083T>C (ATM)	XP_011541146.1:n.4718+1083T>C
XM_011542845.2:c.4454+1083T>C (ATM)	XP_011541147.1:n.4454+1083T>C
XM_017017789.2:c.5762+1083T>C (ATM)	XP_016873278.1:n.5762+1083T>C
XM_017017790.2:c.5762+1083T>C (ATM)	XP_016873279.1:n.5762+1083T>C
XM_017017791.1:c.5762+1083T>C (ATM)	XP_016873280.1:n.5762+1083T>C
XR_002957150.1:n.6362+1083T>C (ATM)
NM_001330368.2:c.645A>G (C11orf65)	NP_001317297.1:p.Ile215Met
NM_001351110.2:c.*43A>G (C11orf65)	NP_001338039.1:n.*43A>G
NM_001351834.2:c.5762+1083T>C (ATM)	NP_001338763.1:n.5762+1083T>C
NM_000051.4:c.5762+1083T>C (ATM) MANE Select	NP_000042.3:n.5762+1083T>C