Canonical Allele Identifier: CA2580083550

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1760647
• ClinVar RCV Id: RCV002409866 ; RCV004054684

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332766_108332771delinsCC , CM000673.2:g.108332766_108332771delinsCC	GRCh38
NC_000011.9:g.108203493_108203498delinsCC , CM000673.1:g.108203493_108203498delinsCC	GRCh37
NC_000011.8:g.107708703_107708708delinsCC	NCBI36
NG_009830.1:g.114935_114940delinsCC , LRG_135:g.114935_114940delinsCC
NG_054724.1:g.142062_142067delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7793_7798delinsCC (ATM)	ENSP00000388058.2:p.Arg2598ProfsTer7
ENST00000713593.1:c.*7264_*7269delinsCC (ATM)	ENSP00000518889.1:n.*7264_*7269delinsCC
ENST00000278616.9:c.7793_7798delinsCC (ATM)	ENSP00000278616.4:p.Arg2598ProfsTer7
ENST00000525056.2:n.2212_2217delinsCC (ATM)
ENST00000525537.3:n.1474_1479delinsCC (ATM)
ENST00000638786.2:n.625+729_625+734delinsCC (ATM)
ENST00000682286.1:n.2550_2555delinsCC (ATM)
ENST00000682302.1:n.2211_2216delinsCC (ATM)
ENST00000683174.1:n.9277_9282delinsCC (ATM)
ENST00000683524.1:n.3017_3022delinsCC (ATM)
ENST00000684152.1:n.3344-1120_3344-1115delinsCC (ATM)
ENST00000684180.1:n.267_272delinsCC (ATM)
ENST00000684447.1:n.3301_3306delinsCC (ATM)
ENST00000527805.6:c.*2857_*2862delinsCC (ATM)	ENSP00000435747.2:n.*2857_*2862delinsCC
ENST00000675595.1:c.*2928_*2933delinsCC (ATM)	ENSP00000502563.1:n.*2928_*2933delinsCC
ENST00000675843.1:c.7793_7798delinsCC (ATM) MANE Select	ENSP00000501606.1:p.Arg2598ProfsTer7
ENST00000278616.8:c.7793_7798delinsCC (ATM)	ENSP00000278616.4:p.Arg2598ProfsTer7
ENST00000452508.6:c.7793_7798delinsCC (ATM)	ENSP00000388058.2:p.Arg2598ProfsTer7
ENST00000524755.5:c.300-1204_300-1199delinsGG (C11orf65)
ENST00000524792.5:n.4008_4013delinsCC (ATM)
ENST00000525729.5:c.641-23700_641-23695delinsGG (C11orf65)	ENSP00000433395.1:n.641-23700_641-23695delinsGG
ENST00000527531.5:c.*1270-1204_*1270-1199delinsGG (C11orf65)	ENSP00000431706.1:n.*1270-1204_*1270-1199delinsGG
ENST00000533690.5:n.3197_3202delinsCC (ATM)
ENST00000533979.5:n.5_10delinsCC (ATM)
ENST00000615746.4:c.*1270-1204_*1270-1199delinsGG (C11orf65)	ENSP00000483537.1:n.*1270-1204_*1270-1199delinsGG
NM_000051.3:c.7793_7798delinsCC , LRG_135t1:c.7793_7798delinsCC (ATM)	NP_000042.3:p.Arg2598ProfsTer7
XM_005271414.3:c.*39-1204_*39-1199delinsGG (C11orf65)	XP_005271471.1:n.*39-1204_*39-1199delinsGG
XM_005271415.3:c.805-1204_805-1199delinsGG (C11orf65)	XP_005271472.1:n.805-1204_805-1199delinsGG
XM_005271561.3:c.7793_7798delinsCC (ATM)	XP_005271618.2:p.Arg2598ProfsTer7
XM_005271562.3:c.7793_7798delinsCC (ATM)	XP_005271619.2:p.Arg2598ProfsTer7
XM_006718843.2:c.7793_7798delinsCC (ATM)	XP_006718906.1:p.Arg2598ProfsTer7
XM_006718845.1:c.3749_3754delinsCC (ATM)	XP_006718908.1:p.Arg1250ProfsTer7
XM_011542840.1:c.7793_7798delinsCC (ATM)	XP_011541142.1:p.Arg2598ProfsTer7
XM_011542841.1:c.7793_7798delinsCC (ATM)	XP_011541143.1:p.Arg2598ProfsTer7
XM_011542842.1:c.7628_7633delinsCC (ATM)	XP_011541144.1:p.Arg2543ProfsTer7
XM_011542843.1:c.7793_7798delinsCC (ATM)	XP_011541145.1:p.Arg2598ProfsTer7
XM_011542844.1:c.6749_6754delinsCC (ATM)	XP_011541146.1:p.Arg2250ProfsTer7
XM_011542845.1:c.6485_6490delinsCC (ATM)	XP_011541147.1:p.Arg2162ProfsTer7
XM_011542847.1:c.2864_2869delinsCC (ATM)	XP_011541149.1:p.Arg955ProfsTer7
NM_001330368.1:c.641-23700_641-23695delinsGG (C11orf65)	NP_001317297.1:n.641-23700_641-23695delinsGG
NM_001351110.1:c.*38+2449_*38+2454delinsGG (C11orf65)	NP_001338039.1:n.*38+2449_*38+2454delinsGG
NM_001351834.1:c.7793_7798delinsCC (ATM)	NP_001338763.1:p.Arg2598ProfsTer7
NR_147053.2:n.2375-1204_2375-1199delinsGG (C11orf65)
XM_005271414.4:c.*39-1204_*39-1199delinsGG (C11orf65)	XP_005271471.1:n.*39-1204_*39-1199delinsGG
XM_005271415.4:c.805-1204_805-1199delinsGG (C11orf65)	XP_005271472.1:n.805-1204_805-1199delinsGG
XM_005271562.5:c.7793_7798delinsCC (ATM)	XP_005271619.2:p.Arg2598ProfsTer7
XM_006718843.4:c.7793_7798delinsCC (ATM)	XP_006718906.1:p.Arg2598ProfsTer7
XM_006718845.2:c.3749_3754delinsCC (ATM)	XP_006718908.1:p.Arg1250ProfsTer7
XM_011542840.3:c.7793_7798delinsCC (ATM)	XP_011541142.1:p.Arg2598ProfsTer7
XM_011542842.3:c.7628_7633delinsCC (ATM)	XP_011541144.1:p.Arg2543ProfsTer7
XM_011542843.2:c.7793_7798delinsCC (ATM)	XP_011541145.1:p.Arg2598ProfsTer7
XM_011542844.3:c.6749_6754delinsCC (ATM)	XP_011541146.1:p.Arg2250ProfsTer7
XM_011542845.2:c.6485_6490delinsCC (ATM)	XP_011541147.1:p.Arg2162ProfsTer7
XM_017017789.2:c.7793_7798delinsCC (ATM)	XP_016873278.1:p.Arg2598ProfsTer7
XM_017017790.2:c.7793_7798delinsCC (ATM)	XP_016873279.1:p.Arg2598ProfsTer7
NM_001330368.2:c.641-23700_641-23695delinsGG (C11orf65)	NP_001317297.1:n.641-23700_641-23695delinsGG
NM_001351110.2:c.*38+2449_*38+2454delinsGG (C11orf65)	NP_001338039.1:n.*38+2449_*38+2454delinsGG
NM_001351834.2:c.7793_7798delinsCC (ATM)	NP_001338763.1:p.Arg2598ProfsTer7
NM_000051.4:c.7793_7798delinsCC (ATM) MANE Select	NP_000042.3:p.Arg2598ProfsTer7
NR_147053.3:n.2373-1204_2373-1199delinsGG (C11orf65)