Canonical Allele Identifier: CA1998812331

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335021C= , CM000673.2:g.108335021C=	GRCh38
NC_000011.9:g.108205748C= , CM000673.1:g.108205748C=	GRCh37
NC_000011.8:g.107710958C=	NCBI36
NG_009830.1:g.117190C= , LRG_135:g.117190C=
NG_054724.1:g.139812G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8063C= (ATM)	ENSP00000388058.2:p.Ala2688=
ENST00000713593.1:c.*7534C= (ATM)	ENSP00000518889.1:n.*7534C=
ENST00000278616.9:c.8063C= (ATM)	ENSP00000278616.4:p.Ala2688=
ENST00000525056.2:n.2482C= (ATM)
ENST00000638786.2:n.761C= (ATM)
ENST00000682286.1:n.2820C= (ATM)
ENST00000682302.1:n.2481C= (ATM)
ENST00000683174.1:n.9547C= (ATM)
ENST00000683524.1:n.3287C= (ATM)
ENST00000684152.1:n.3479C= (ATM)
ENST00000684180.1:n.537C= (ATM)
ENST00000684447.1:n.4556C= (ATM)
ENST00000527805.6:c.*3127C= (ATM)	ENSP00000435747.2:n.*3127C=
ENST00000675595.1:c.*3198C= (ATM)	ENSP00000502563.1:n.*3198C=
ENST00000675843.1:c.8063C= (ATM) MANE Select	ENSP00000501606.1:p.Ala2688=
ENST00000278616.8:c.8063C= (ATM)	ENSP00000278616.4:p.Ala2688=
ENST00000452508.6:c.8063C= (ATM)	ENSP00000388058.2:p.Ala2688=
ENST00000524755.5:c.299+199G= (C11orf65)
ENST00000524792.5:n.4278C= (ATM)
ENST00000525056.1:n.260C= (ATM)
ENST00000525729.5:c.641-25950G= (C11orf65)	ENSP00000433395.1:n.641-25950G=
ENST00000527531.5:c.*1269+199G= (C11orf65)	ENSP00000431706.1:n.*1269+199G=
ENST00000533979.5:n.275C= (ATM)
ENST00000615746.4:c.*1269+199G= (C11orf65)	ENSP00000483537.1:n.*1269+199G=
NM_000051.3:c.8063C= , LRG_135t1:c.8063C= (ATM)	NP_000042.3:p.Ala2688=
XM_005271414.3:c.*38+199G= (C11orf65)	XP_005271471.1:n.*38+199G=
XM_005271415.3:c.804+199G= (C11orf65)	XP_005271472.1:n.804+199G=
XM_005271561.3:c.8063C= (ATM)	XP_005271618.2:p.Ala2688=
XM_005271562.3:c.8063C= (ATM)	XP_005271619.2:p.Ala2688=
XM_006718843.2:c.8063C= (ATM)	XP_006718906.1:p.Ala2688=
XM_006718845.1:c.4019C= (ATM)	XP_006718908.1:p.Ala1340=
XM_011542840.1:c.8063C= (ATM)	XP_011541142.1:p.Ala2688=
XM_011542841.1:c.8063C= (ATM)	XP_011541143.1:p.Ala2688=
XM_011542842.1:c.7898C= (ATM)	XP_011541144.1:p.Ala2633=
XM_011542843.1:c.8063C= (ATM)	XP_011541145.1:p.Ala2688=
XM_011542844.1:c.7019C= (ATM)	XP_011541146.1:p.Ala2340=
XM_011542845.1:c.6755C= (ATM)	XP_011541147.1:p.Ala2252=
XM_011542847.1:c.3134C= (ATM)	XP_011541149.1:p.Ala1045=
NM_001330368.1:c.641-25950G= (C11orf65)	NP_001317297.1:n.641-25950G=
NM_001351110.1:c.*38+199G= (C11orf65)	NP_001338039.1:n.*38+199G=
NM_001351834.1:c.8063C= (ATM)	NP_001338763.1:p.Ala2688=
NR_147053.2:n.2374+199G= (C11orf65)
XM_005271414.4:c.*38+199G= (C11orf65)	XP_005271471.1:n.*38+199G=
XM_005271415.4:c.804+199G= (C11orf65)	XP_005271472.1:n.804+199G=
XM_005271562.5:c.8063C= (ATM)	XP_005271619.2:p.Ala2688=
XM_006718843.4:c.8063C= (ATM)	XP_006718906.1:p.Ala2688=
XM_006718845.2:c.4019C= (ATM)	XP_006718908.1:p.Ala1340=
XM_011542840.3:c.8063C= (ATM)	XP_011541142.1:p.Ala2688=
XM_011542842.3:c.7898C= (ATM)	XP_011541144.1:p.Ala2633=
XM_011542843.2:c.8063C= (ATM)	XP_011541145.1:p.Ala2688=
XM_011542844.3:c.7019C= (ATM)	XP_011541146.1:p.Ala2340=
XM_011542845.2:c.6755C= (ATM)	XP_011541147.1:p.Ala2252=
XM_017017789.2:c.8063C= (ATM)	XP_016873278.1:p.Ala2688=
XM_017017790.2:c.8063C= (ATM)	XP_016873279.1:p.Ala2688=
NM_001330368.2:c.641-25950G= (C11orf65)	NP_001317297.1:n.641-25950G=
NM_001351110.2:c.*38+199G= (C11orf65)	NP_001338039.1:n.*38+199G=
NM_001351834.2:c.8063C= (ATM)	NP_001338763.1:p.Ala2688=
NM_000051.4:c.8063C= (ATM) MANE Select	NP_000042.3:p.Ala2688=
NR_147053.3:n.2372+199G= (C11orf65)