Canonical Allele Identifier: CA2580615064

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1398798
• ClinVar RCV Id: RCV001915239 ; RCV003452097 ; RCV002422999
• dbSNP Id: rs2136663735

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335093_108335097del , CM000673.2:g.108335093_108335097del	GRCh38
NC_000011.9:g.108205820_108205824del , CM000673.1:g.108205820_108205824del	GRCh37
NC_000011.8:g.107711030_107711034del	NCBI36
NG_009830.1:g.117262_117266del , LRG_135:g.117262_117266del
NG_054724.1:g.139742_139746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8135_8139del (ATM)	ENSP00000388058.2:p.Arg2712ThrfsTer4
ENST00000713593.1:c.*7606_*7610del (ATM)	ENSP00000518889.1:n.*7606_*7610del
ENST00000278616.9:c.8135_8139del (ATM)	ENSP00000278616.4:p.Arg2712ThrfsTer4
ENST00000525056.2:n.2554_2558del (ATM)
ENST00000638786.2:n.833_837del (ATM)
ENST00000682286.1:n.2892_2896del (ATM)
ENST00000682302.1:n.2553_2557del (ATM)
ENST00000683174.1:n.9619_9623del (ATM)
ENST00000683524.1:n.3359_3363del (ATM)
ENST00000684152.1:n.3551_3555del (ATM)
ENST00000684180.1:n.609_613del (ATM)
ENST00000684447.1:n.4628_4632del (ATM)
ENST00000527805.6:c.*3199_*3203del (ATM)	ENSP00000435747.2:n.*3199_*3203del
ENST00000675595.1:c.*3270_*3274del (ATM)	ENSP00000502563.1:n.*3270_*3274del
ENST00000675843.1:c.8135_8139del (ATM) MANE Select	ENSP00000501606.1:p.Arg2712ThrfsTer4
ENST00000278616.8:c.8135_8139del (ATM)	ENSP00000278616.4:p.Arg2712ThrfsTer4
ENST00000452508.6:c.8135_8139del (ATM)	ENSP00000388058.2:p.Arg2712ThrfsTer4
ENST00000524755.5:c.299+129_299+133del (C11orf65)
ENST00000524792.5:n.4350_4354del (ATM)
ENST00000525056.1:n.332_336del (ATM)
ENST00000525729.5:c.641-26020_641-26016del (C11orf65)	ENSP00000433395.1:n.641-26020_641-26016del
ENST00000527531.5:c.*1269+129_*1269+133del (C11orf65)	ENSP00000431706.1:n.*1269+129_*1269+133del
ENST00000533979.5:n.347_351del (ATM)
ENST00000615746.4:c.*1269+129_*1269+133del (C11orf65)	ENSP00000483537.1:n.*1269+129_*1269+133del
NM_000051.3:c.8135_8139del , LRG_135t1:c.8135_8139del (ATM)	NP_000042.3:p.Arg2712ThrfsTer4
XM_005271414.3:c.*38+129_*38+133del (C11orf65)	XP_005271471.1:n.*38+129_*38+133del
XM_005271415.3:c.804+129_804+133del (C11orf65)	XP_005271472.1:n.804+129_804+133del
XM_005271561.3:c.8135_8139del (ATM)	XP_005271618.2:p.Arg2712ThrfsTer4
XM_005271562.3:c.8135_8139del (ATM)	XP_005271619.2:p.Arg2712ThrfsTer4
XM_006718843.2:c.8135_8139del (ATM)	XP_006718906.1:p.Arg2712ThrfsTer4
XM_006718845.1:c.4091_4095del (ATM)	XP_006718908.1:p.Arg1364ThrfsTer4
XM_011542840.1:c.8135_8139del (ATM)	XP_011541142.1:p.Arg2712ThrfsTer4
XM_011542841.1:c.8135_8139del (ATM)	XP_011541143.1:p.Arg2712ThrfsTer4
XM_011542842.1:c.7970_7974del (ATM)	XP_011541144.1:p.Arg2657ThrfsTer4
XM_011542843.1:c.8135_8139del (ATM)	XP_011541145.1:p.Arg2712ThrfsTer4
XM_011542844.1:c.7091_7095del (ATM)	XP_011541146.1:p.Arg2364ThrfsTer4
XM_011542845.1:c.6827_6831del (ATM)	XP_011541147.1:p.Arg2276ThrfsTer4
XM_011542847.1:c.3206_3210del (ATM)	XP_011541149.1:p.Arg1069ThrfsTer4
NM_001330368.1:c.641-26020_641-26016del (C11orf65)	NP_001317297.1:n.641-26020_641-26016del
NM_001351110.1:c.*38+129_*38+133del (C11orf65)	NP_001338039.1:n.*38+129_*38+133del
NM_001351834.1:c.8135_8139del (ATM)	NP_001338763.1:p.Arg2712ThrfsTer4
NR_147053.2:n.2374+129_2374+133del (C11orf65)
XM_005271414.4:c.*38+129_*38+133del (C11orf65)	XP_005271471.1:n.*38+129_*38+133del
XM_005271415.4:c.804+129_804+133del (C11orf65)	XP_005271472.1:n.804+129_804+133del
XM_005271562.5:c.8135_8139del (ATM)	XP_005271619.2:p.Arg2712ThrfsTer4
XM_006718843.4:c.8135_8139del (ATM)	XP_006718906.1:p.Arg2712ThrfsTer4
XM_006718845.2:c.4091_4095del (ATM)	XP_006718908.1:p.Arg1364ThrfsTer4
XM_011542840.3:c.8135_8139del (ATM)	XP_011541142.1:p.Arg2712ThrfsTer4
XM_011542842.3:c.7970_7974del (ATM)	XP_011541144.1:p.Arg2657ThrfsTer4
XM_011542843.2:c.8135_8139del (ATM)	XP_011541145.1:p.Arg2712ThrfsTer4
XM_011542844.3:c.7091_7095del (ATM)	XP_011541146.1:p.Arg2364ThrfsTer4
XM_011542845.2:c.6827_6831del (ATM)	XP_011541147.1:p.Arg2276ThrfsTer4
XM_017017789.2:c.8135_8139del (ATM)	XP_016873278.1:p.Arg2712ThrfsTer4
XM_017017790.2:c.8135_8139del (ATM)	XP_016873279.1:p.Arg2712ThrfsTer4
NM_001330368.2:c.641-26020_641-26016del (C11orf65)	NP_001317297.1:n.641-26020_641-26016del
NM_001351110.2:c.*38+129_*38+133del (C11orf65)	NP_001338039.1:n.*38+129_*38+133del
NM_001351834.2:c.8135_8139del (ATM)	NP_001338763.1:p.Arg2712ThrfsTer4
NM_000051.4:c.8135_8139del (ATM) MANE Select	NP_000042.3:p.Arg2712ThrfsTer4
NR_147053.3:n.2372+129_2372+133del (C11orf65)