Canonical Allele Identifier: CA2574971218

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1591738184
• gnomAD v4: 11-108308912-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108308912G>T , CM000673.2:g.108308912G>T	GRCh38
NC_000011.9:g.108179639G>T , CM000673.1:g.108179639G>T	GRCh37
NC_000011.8:g.107684849G>T	NCBI36
NG_009830.1:g.91081G>T , LRG_135:g.91081G>T
NG_054724.1:g.165921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5762+928G>T (ATM)	ENSP00000388058.2:n.5762+928G>T
ENST00000713593.1:c.*5233+928G>T (ATM)	ENSP00000518889.1:n.*5233+928G>T
ENST00000278616.9:c.5762+928G>T (ATM)	ENSP00000278616.4:n.5762+928G>T
ENST00000525056.2:n.181+928G>T (ATM)
ENST00000682286.1:n.519+928G>T (ATM)
ENST00000682302.1:n.180+928G>T (ATM)
ENST00000683174.1:n.7246+928G>T (ATM)
ENST00000683524.1:n.986+928G>T (ATM)
ENST00000684152.1:n.1476+928G>T (ATM)
ENST00000527805.6:c.*826+928G>T (ATM)	ENSP00000435747.2:n.*826+928G>T
ENST00000675595.1:c.*826+928G>T (ATM)	ENSP00000502563.1:n.*826+928G>T
ENST00000675843.1:c.5762+928G>T (ATM) MANE Select	ENSP00000501606.1:n.5762+928G>T
ENST00000278616.8:c.5762+928G>T (ATM)	ENSP00000278616.4:n.5762+928G>T
ENST00000452508.6:c.5762+928G>T (ATM)	ENSP00000388058.2:n.5762+928G>T
ENST00000524792.5:n.1977+928G>T (ATM)
ENST00000525729.5:c.*59C>A (C11orf65)	ENSP00000433395.1:n.*59C>A
ENST00000529588.5:c.187-1248G>T (ATM)
ENST00000532765.1:n.79+842G>T (ATM)
ENST00000533690.5:n.1166+928G>T (ATM)
NM_000051.3:c.5762+928G>T , LRG_135t1:c.5762+928G>T (ATM)	NP_000042.3:n.5762+928G>T
XM_005271561.3:c.5762+928G>T (ATM)	XP_005271618.2:n.5762+928G>T
XM_005271562.3:c.5762+928G>T (ATM)	XP_005271619.2:n.5762+928G>T
XM_006718843.2:c.5762+928G>T (ATM)	XP_006718906.1:n.5762+928G>T
XM_006718845.1:c.1718+928G>T (ATM)	XP_006718908.1:n.1718+928G>T
XM_011542840.1:c.5762+928G>T (ATM)	XP_011541142.1:n.5762+928G>T
XM_011542841.1:c.5762+928G>T (ATM)	XP_011541143.1:n.5762+928G>T
XM_011542842.1:c.5597+928G>T (ATM)	XP_011541144.1:n.5597+928G>T
XM_011542843.1:c.5762+928G>T (ATM)	XP_011541145.1:n.5762+928G>T
XM_011542844.1:c.4718+928G>T (ATM)	XP_011541146.1:n.4718+928G>T
XM_011542845.1:c.4454+928G>T (ATM)	XP_011541147.1:n.4454+928G>T
XM_011542847.1:c.833+928G>T (ATM)	XP_011541149.1:n.833+928G>T
NM_001330368.1:c.*59C>A (C11orf65)	NP_001317297.1:n.*59C>A
NM_001351110.1:c.*198C>A (C11orf65)	NP_001338039.1:n.*198C>A
NM_001351834.1:c.5762+928G>T (ATM)	NP_001338763.1:n.5762+928G>T
XM_005271562.5:c.5762+928G>T (ATM)	XP_005271619.2:n.5762+928G>T
XM_006718843.4:c.5762+928G>T (ATM)	XP_006718906.1:n.5762+928G>T
XM_006718845.2:c.1718+928G>T (ATM)	XP_006718908.1:n.1718+928G>T
XM_011542840.3:c.5762+928G>T (ATM)	XP_011541142.1:n.5762+928G>T
XM_011542842.3:c.5597+928G>T (ATM)	XP_011541144.1:n.5597+928G>T
XM_011542843.2:c.5762+928G>T (ATM)	XP_011541145.1:n.5762+928G>T
XM_011542844.3:c.4718+928G>T (ATM)	XP_011541146.1:n.4718+928G>T
XM_011542845.2:c.4454+928G>T (ATM)	XP_011541147.1:n.4454+928G>T
XM_017017789.2:c.5762+928G>T (ATM)	XP_016873278.1:n.5762+928G>T
XM_017017790.2:c.5762+928G>T (ATM)	XP_016873279.1:n.5762+928G>T
XM_017017791.1:c.5762+928G>T (ATM)	XP_016873280.1:n.5762+928G>T
XR_002957150.1:n.6362+928G>T (ATM)
NM_001330368.2:c.*59C>A (C11orf65)	NP_001317297.1:n.*59C>A
NM_001351110.2:c.*198C>A (C11orf65)	NP_001338039.1:n.*198C>A
NM_001351834.2:c.5762+928G>T (ATM)	NP_001338763.1:n.5762+928G>T
NM_000051.4:c.5762+928G>T (ATM) MANE Select	NP_000042.3:n.5762+928G>T