Canonical Allele Identifier: CA1998811140

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332785A= , CM000673.2:g.108332785A=	GRCh38
NC_000011.9:g.108203512A= , CM000673.1:g.108203512A=	GRCh37
NC_000011.8:g.107708722A=	NCBI36
NG_009830.1:g.114954A= , LRG_135:g.114954A=
NG_054724.1:g.142048T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7812A= (ATM)	ENSP00000388058.2:p.Arg2604=
ENST00000713593.1:c.*7283A= (ATM)	ENSP00000518889.1:n.*7283A=
ENST00000278616.9:c.7812A= (ATM)	ENSP00000278616.4:p.Arg2604=
ENST00000525056.2:n.2231A= (ATM)
ENST00000525537.3:n.1493A= (ATM)
ENST00000638786.2:n.625+748A= (ATM)
ENST00000682286.1:n.2569A= (ATM)
ENST00000682302.1:n.2230A= (ATM)
ENST00000683174.1:n.9296A= (ATM)
ENST00000683524.1:n.3036A= (ATM)
ENST00000684152.1:n.3344-1101A= (ATM)
ENST00000684180.1:n.286A= (ATM)
ENST00000684447.1:n.3320A= (ATM)
ENST00000527805.6:c.*2876A= (ATM)	ENSP00000435747.2:n.*2876A=
ENST00000675595.1:c.*2947A= (ATM)	ENSP00000502563.1:n.*2947A=
ENST00000675843.1:c.7812A= (ATM) MANE Select	ENSP00000501606.1:p.Arg2604=
ENST00000278616.8:c.7812A= (ATM)	ENSP00000278616.4:p.Arg2604=
ENST00000452508.6:c.7812A= (ATM)	ENSP00000388058.2:p.Arg2604=
ENST00000524755.5:c.300-1218T= (C11orf65)
ENST00000524792.5:n.4027A= (ATM)
ENST00000525056.1:n.9A= (ATM)
ENST00000525729.5:c.641-23714T= (C11orf65)	ENSP00000433395.1:n.641-23714T=
ENST00000527531.5:c.*1270-1218T= (C11orf65)	ENSP00000431706.1:n.*1270-1218T=
ENST00000533690.5:n.3216A= (ATM)
ENST00000533979.5:n.24A= (ATM)
ENST00000615746.4:c.*1270-1218T= (C11orf65)	ENSP00000483537.1:n.*1270-1218T=
NM_000051.3:c.7812A= , LRG_135t1:c.7812A= (ATM)	NP_000042.3:p.Arg2604=
XM_005271414.3:c.*39-1218T= (C11orf65)	XP_005271471.1:n.*39-1218T=
XM_005271415.3:c.805-1218T= (C11orf65)	XP_005271472.1:n.805-1218T=
XM_005271561.3:c.7812A= (ATM)	XP_005271618.2:p.Arg2604=
XM_005271562.3:c.7812A= (ATM)	XP_005271619.2:p.Arg2604=
XM_006718843.2:c.7812A= (ATM)	XP_006718906.1:p.Arg2604=
XM_006718845.1:c.3768A= (ATM)	XP_006718908.1:p.Arg1256=
XM_011542840.1:c.7812A= (ATM)	XP_011541142.1:p.Arg2604=
XM_011542841.1:c.7812A= (ATM)	XP_011541143.1:p.Arg2604=
XM_011542842.1:c.7647A= (ATM)	XP_011541144.1:p.Arg2549=
XM_011542843.1:c.7812A= (ATM)	XP_011541145.1:p.Arg2604=
XM_011542844.1:c.6768A= (ATM)	XP_011541146.1:p.Arg2256=
XM_011542845.1:c.6504A= (ATM)	XP_011541147.1:p.Arg2168=
XM_011542847.1:c.2883A= (ATM)	XP_011541149.1:p.Arg961=
NM_001330368.1:c.641-23714T= (C11orf65)	NP_001317297.1:n.641-23714T=
NM_001351110.1:c.*38+2435T= (C11orf65)	NP_001338039.1:n.*38+2435T=
NM_001351834.1:c.7812A= (ATM)	NP_001338763.1:p.Arg2604=
NR_147053.2:n.2375-1218T= (C11orf65)
XM_005271414.4:c.*39-1218T= (C11orf65)	XP_005271471.1:n.*39-1218T=
XM_005271415.4:c.805-1218T= (C11orf65)	XP_005271472.1:n.805-1218T=
XM_005271562.5:c.7812A= (ATM)	XP_005271619.2:p.Arg2604=
XM_006718843.4:c.7812A= (ATM)	XP_006718906.1:p.Arg2604=
XM_006718845.2:c.3768A= (ATM)	XP_006718908.1:p.Arg1256=
XM_011542840.3:c.7812A= (ATM)	XP_011541142.1:p.Arg2604=
XM_011542842.3:c.7647A= (ATM)	XP_011541144.1:p.Arg2549=
XM_011542843.2:c.7812A= (ATM)	XP_011541145.1:p.Arg2604=
XM_011542844.3:c.6768A= (ATM)	XP_011541146.1:p.Arg2256=
XM_011542845.2:c.6504A= (ATM)	XP_011541147.1:p.Arg2168=
XM_017017789.2:c.7812A= (ATM)	XP_016873278.1:p.Arg2604=
XM_017017790.2:c.7812A= (ATM)	XP_016873279.1:p.Arg2604=
NM_001330368.2:c.641-23714T= (C11orf65)	NP_001317297.1:n.641-23714T=
NM_001351110.2:c.*38+2435T= (C11orf65)	NP_001338039.1:n.*38+2435T=
NM_001351834.2:c.7812A= (ATM)	NP_001338763.1:p.Arg2604=
NM_000051.4:c.7812A= (ATM) MANE Select	NP_000042.3:p.Arg2604=
NR_147053.3:n.2373-1218T= (C11orf65)