Canonical Allele Identifier: CA1998812754

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335873T= , CM000673.2:g.108335873T=	GRCh38
NC_000011.9:g.108206600T= , CM000673.1:g.108206600T=	GRCh37
NC_000011.8:g.107711810T=	NCBI36
NG_009830.1:g.118042T= , LRG_135:g.118042T=
NG_054724.1:g.138960A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8180T= (ATM)	ENSP00000388058.2:p.Val2727=
ENST00000713593.1:c.*7651T= (ATM)	ENSP00000518889.1:n.*7651T=
ENST00000278616.9:c.8180T= (ATM)	ENSP00000278616.4:p.Val2727=
ENST00000525056.2:n.2599T= (ATM)
ENST00000638786.2:n.878T= (ATM)
ENST00000682286.1:n.2937T= (ATM)
ENST00000682302.1:n.2598T= (ATM)
ENST00000683174.1:n.9664T= (ATM)
ENST00000683524.1:n.3404T= (ATM)
ENST00000684152.1:n.3596T= (ATM)
ENST00000684180.1:n.654T= (ATM)
ENST00000684447.1:n.4673T= (ATM)
ENST00000527805.6:c.*3244T= (ATM)	ENSP00000435747.2:n.*3244T=
ENST00000675595.1:c.*3315T= (ATM)	ENSP00000502563.1:n.*3315T=
ENST00000675843.1:c.8180T= (ATM) MANE Select	ENSP00000501606.1:p.Val2727=
ENST00000278616.8:c.8180T= (ATM)	ENSP00000278616.4:p.Val2727=
ENST00000452508.6:c.8180T= (ATM)	ENSP00000388058.2:p.Val2727=
ENST00000524755.5:c.227-581A= (C11orf65)
ENST00000524792.5:n.4395T= (ATM)
ENST00000525056.1:n.377T= (ATM)
ENST00000525729.5:c.641-26802A= (C11orf65)	ENSP00000433395.1:n.641-26802A=
ENST00000527531.5:c.*1197-581A= (C11orf65)	ENSP00000431706.1:n.*1197-581A=
ENST00000533979.5:n.392T= (ATM)
ENST00000615746.4:c.*1197-581A= (C11orf65)	ENSP00000483537.1:n.*1197-581A=
NM_000051.3:c.8180T= , LRG_135t1:c.8180T= (ATM)	NP_000042.3:p.Val2727=
XM_005271414.3:c.788-581A= (C11orf65)	XP_005271471.1:n.788-581A=
XM_005271415.3:c.732-581A= (C11orf65)	XP_005271472.1:n.732-581A=
XM_005271561.3:c.8180T= (ATM)	XP_005271618.2:p.Val2727=
XM_005271562.3:c.8180T= (ATM)	XP_005271619.2:p.Val2727=
XM_006718843.2:c.8180T= (ATM)	XP_006718906.1:p.Val2727=
XM_006718845.1:c.4136T= (ATM)	XP_006718908.1:p.Val1379=
XM_011542840.1:c.8180T= (ATM)	XP_011541142.1:p.Val2727=
XM_011542841.1:c.8180T= (ATM)	XP_011541143.1:p.Val2727=
XM_011542842.1:c.8015T= (ATM)	XP_011541144.1:p.Val2672=
XM_011542843.1:c.8180T= (ATM)	XP_011541145.1:p.Val2727=
XM_011542844.1:c.7136T= (ATM)	XP_011541146.1:p.Val2379=
XM_011542845.1:c.6872T= (ATM)	XP_011541147.1:p.Val2291=
XM_011542847.1:c.3251T= (ATM)	XP_011541149.1:p.Val1084=
NM_001330368.1:c.641-26802A= (C11orf65)	NP_001317297.1:n.641-26802A=
NM_001351110.1:c.695-581A= (C11orf65)	NP_001338039.1:n.695-581A=
NM_001351834.1:c.8180T= (ATM)	NP_001338763.1:p.Val2727=
NR_147053.2:n.2302-581A= (C11orf65)
XM_005271414.4:c.788-581A= (C11orf65)	XP_005271471.1:n.788-581A=
XM_005271415.4:c.732-581A= (C11orf65)	XP_005271472.1:n.732-581A=
XM_005271562.5:c.8180T= (ATM)	XP_005271619.2:p.Val2727=
XM_006718843.4:c.8180T= (ATM)	XP_006718906.1:p.Val2727=
XM_006718845.2:c.4136T= (ATM)	XP_006718908.1:p.Val1379=
XM_011542840.3:c.8180T= (ATM)	XP_011541142.1:p.Val2727=
XM_011542842.3:c.8015T= (ATM)	XP_011541144.1:p.Val2672=
XM_011542843.2:c.8180T= (ATM)	XP_011541145.1:p.Val2727=
XM_011542844.3:c.7136T= (ATM)	XP_011541146.1:p.Val2379=
XM_011542845.2:c.6872T= (ATM)	XP_011541147.1:p.Val2291=
XM_017017789.2:c.8180T= (ATM)	XP_016873278.1:p.Val2727=
XM_017017790.2:c.8180T= (ATM)	XP_016873279.1:p.Val2727=
NM_001330368.2:c.641-26802A= (C11orf65)	NP_001317297.1:n.641-26802A=
NM_001351110.2:c.695-581A= (C11orf65)	NP_001338039.1:n.695-581A=
NM_001351834.2:c.8180T= (ATM)	NP_001338763.1:p.Val2727=
NM_000051.4:c.8180T= (ATM) MANE Select	NP_000042.3:p.Val2727=
NR_147053.3:n.2300-581A= (C11orf65)