Canonical Allele Identifier: CA1139662191

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 987450
• ClinVar RCV Id: RCV001268828
• dbSNP Id: rs2086690343

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335095_108335096insC , CM000673.2:g.108335095_108335096insC	GRCh38
NC_000011.9:g.108205822_108205823insC , CM000673.1:g.108205822_108205823insC	GRCh37
NC_000011.8:g.107711032_107711033insC	NCBI36
NG_009830.1:g.117264_117265insC , LRG_135:g.117264_117265insC
NG_054724.1:g.139737_139738insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8137_8138insC (ATM)	ENSP00000388058.2:p.Arg2713ThrfsTer5
ENST00000713593.1:c.*7608_*7609insC (ATM)	ENSP00000518889.1:n.*7608_*7609insC
ENST00000278616.9:c.8137_8138insC (ATM)	ENSP00000278616.4:p.Arg2713ThrfsTer5
ENST00000525056.2:n.2556_2557insC (ATM)
ENST00000638786.2:n.835_836insC (ATM)
ENST00000682286.1:n.2894_2895insC (ATM)
ENST00000682302.1:n.2555_2556insC (ATM)
ENST00000683174.1:n.9621_9622insC (ATM)
ENST00000683524.1:n.3361_3362insC (ATM)
ENST00000684152.1:n.3553_3554insC (ATM)
ENST00000684180.1:n.611_612insC (ATM)
ENST00000684447.1:n.4630_4631insC (ATM)
ENST00000527805.6:c.*3201_*3202insC (ATM)	ENSP00000435747.2:n.*3201_*3202insC
ENST00000675595.1:c.*3272_*3273insC (ATM)	ENSP00000502563.1:n.*3272_*3273insC
ENST00000675843.1:c.8137_8138insC (ATM) MANE Select	ENSP00000501606.1:p.Arg2713ThrfsTer5
ENST00000278616.8:c.8137_8138insC (ATM)	ENSP00000278616.4:p.Arg2713ThrfsTer5
ENST00000452508.6:c.8137_8138insC (ATM)	ENSP00000388058.2:p.Arg2713ThrfsTer5
ENST00000524755.5:c.299+124_299+125insG (C11orf65)
ENST00000524792.5:n.4352_4353insC (ATM)
ENST00000525056.1:n.334_335insC (ATM)
ENST00000525729.5:c.641-26025_641-26024insG (C11orf65)	ENSP00000433395.1:n.641-26025_641-26024insG
ENST00000527531.5:c.*1269+124_*1269+125insG (C11orf65)	ENSP00000431706.1:n.*1269+124_*1269+125insG
ENST00000533979.5:n.349_350insC (ATM)
ENST00000615746.4:c.*1269+124_*1269+125insG (C11orf65)	ENSP00000483537.1:n.*1269+124_*1269+125insG
NM_000051.3:c.8137_8138insC , LRG_135t1:c.8137_8138insC (ATM)	NP_000042.3:p.Arg2713ThrfsTer5
XM_005271414.3:c.*38+124_*38+125insG (C11orf65)	XP_005271471.1:n.*38+124_*38+125insG
XM_005271415.3:c.804+124_804+125insG (C11orf65)	XP_005271472.1:n.804+124_804+125insG
XM_005271561.3:c.8137_8138insC (ATM)	XP_005271618.2:p.Arg2713ThrfsTer5
XM_005271562.3:c.8137_8138insC (ATM)	XP_005271619.2:p.Arg2713ThrfsTer5
XM_006718843.2:c.8137_8138insC (ATM)	XP_006718906.1:p.Arg2713ThrfsTer5
XM_006718845.1:c.4093_4094insC (ATM)	XP_006718908.1:p.Arg1365ThrfsTer5
XM_011542840.1:c.8137_8138insC (ATM)	XP_011541142.1:p.Arg2713ThrfsTer5
XM_011542841.1:c.8137_8138insC (ATM)	XP_011541143.1:p.Arg2713ThrfsTer5
XM_011542842.1:c.7972_7973insC (ATM)	XP_011541144.1:p.Arg2658ThrfsTer5
XM_011542843.1:c.8137_8138insC (ATM)	XP_011541145.1:p.Arg2713ThrfsTer5
XM_011542844.1:c.7093_7094insC (ATM)	XP_011541146.1:p.Arg2365ThrfsTer5
XM_011542845.1:c.6829_6830insC (ATM)	XP_011541147.1:p.Arg2277ThrfsTer5
XM_011542847.1:c.3208_3209insC (ATM)	XP_011541149.1:p.Arg1070ThrfsTer5
NM_001330368.1:c.641-26025_641-26024insG (C11orf65)	NP_001317297.1:n.641-26025_641-26024insG
NM_001351110.1:c.*38+124_*38+125insG (C11orf65)	NP_001338039.1:n.*38+124_*38+125insG
NM_001351834.1:c.8137_8138insC (ATM)	NP_001338763.1:p.Arg2713ThrfsTer5
NR_147053.2:n.2374+124_2374+125insG (C11orf65)
XM_005271414.4:c.*38+124_*38+125insG (C11orf65)	XP_005271471.1:n.*38+124_*38+125insG
XM_005271415.4:c.804+124_804+125insG (C11orf65)	XP_005271472.1:n.804+124_804+125insG
XM_005271562.5:c.8137_8138insC (ATM)	XP_005271619.2:p.Arg2713ThrfsTer5
XM_006718843.4:c.8137_8138insC (ATM)	XP_006718906.1:p.Arg2713ThrfsTer5
XM_006718845.2:c.4093_4094insC (ATM)	XP_006718908.1:p.Arg1365ThrfsTer5
XM_011542840.3:c.8137_8138insC (ATM)	XP_011541142.1:p.Arg2713ThrfsTer5
XM_011542842.3:c.7972_7973insC (ATM)	XP_011541144.1:p.Arg2658ThrfsTer5
XM_011542843.2:c.8137_8138insC (ATM)	XP_011541145.1:p.Arg2713ThrfsTer5
XM_011542844.3:c.7093_7094insC (ATM)	XP_011541146.1:p.Arg2365ThrfsTer5
XM_011542845.2:c.6829_6830insC (ATM)	XP_011541147.1:p.Arg2277ThrfsTer5
XM_017017789.2:c.8137_8138insC (ATM)	XP_016873278.1:p.Arg2713ThrfsTer5
XM_017017790.2:c.8137_8138insC (ATM)	XP_016873279.1:p.Arg2713ThrfsTer5
NM_001330368.2:c.641-26025_641-26024insG (C11orf65)	NP_001317297.1:n.641-26025_641-26024insG
NM_001351110.2:c.*38+124_*38+125insG (C11orf65)	NP_001338039.1:n.*38+124_*38+125insG
NM_001351834.2:c.8137_8138insC (ATM)	NP_001338763.1:p.Arg2713ThrfsTer5
NM_000051.4:c.8137_8138insC (ATM) MANE Select	NP_000042.3:p.Arg2713ThrfsTer5
NR_147053.3:n.2372+124_2372+125insG (C11orf65)