Canonical Allele Identifier: CA2695215411

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332849_108332850dup , CM000673.2:g.108332849_108332850dup	GRCh38
NC_000011.9:g.108203576_108203577dup , CM000673.1:g.108203576_108203577dup	GRCh37
NC_000011.8:g.107708786_107708787dup	NCBI36
NG_009830.1:g.115018_115019dup , LRG_135:g.115018_115019dup
NG_054724.1:g.141983_141984dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7876_7877dup (ATM)	ENSP00000388058.2:p.Tyr2627LeufsTer5
ENST00000713593.1:c.*7347_*7348dup (ATM)	ENSP00000518889.1:n.*7347_*7348dup
ENST00000278616.9:c.7876_7877dup (ATM)	ENSP00000278616.4:p.Tyr2627LeufsTer5
ENST00000525056.2:n.2295_2296dup (ATM)
ENST00000525537.3:n.1557_1558dup (ATM)
ENST00000638786.2:n.625+812_625+813dup (ATM)
ENST00000682286.1:n.2633_2634dup (ATM)
ENST00000682302.1:n.2294_2295dup (ATM)
ENST00000683174.1:n.9360_9361dup (ATM)
ENST00000683524.1:n.3100_3101dup (ATM)
ENST00000684152.1:n.3344-1037_3344-1036dup (ATM)
ENST00000684180.1:n.350_351dup (ATM)
ENST00000684447.1:n.3384_3385dup (ATM)
ENST00000527805.6:c.*2940_*2941dup (ATM)	ENSP00000435747.2:n.*2940_*2941dup
ENST00000675595.1:c.*3011_*3012dup (ATM)	ENSP00000502563.1:n.*3011_*3012dup
ENST00000675843.1:c.7876_7877dup (ATM) MANE Select	ENSP00000501606.1:p.Tyr2627LeufsTer5
ENST00000278616.8:c.7876_7877dup (ATM)	ENSP00000278616.4:p.Tyr2627LeufsTer5
ENST00000452508.6:c.7876_7877dup (ATM)	ENSP00000388058.2:p.Tyr2627LeufsTer5
ENST00000524755.5:c.300-1283_300-1282dup (C11orf65)
ENST00000524792.5:n.4091_4092dup (ATM)
ENST00000525056.1:n.73_74dup (ATM)
ENST00000525729.5:c.641-23779_641-23778dup (C11orf65)	ENSP00000433395.1:n.641-23779_641-23778dup
ENST00000527531.5:c.*1270-1283_*1270-1282dup (C11orf65)	ENSP00000431706.1:n.*1270-1283_*1270-1282dup
ENST00000533690.5:n.3280_3281dup (ATM)
ENST00000533979.5:n.88_89dup (ATM)
ENST00000615746.4:c.*1270-1283_*1270-1282dup (C11orf65)	ENSP00000483537.1:n.*1270-1283_*1270-1282dup
NM_000051.3:c.7876_7877dup , LRG_135t1:c.7876_7877dup (ATM)	NP_000042.3:p.Tyr2627LeufsTer5
XM_005271414.3:c.*39-1283_*39-1282dup (C11orf65)	XP_005271471.1:n.*39-1283_*39-1282dup
XM_005271415.3:c.805-1283_805-1282dup (C11orf65)	XP_005271472.1:n.805-1283_805-1282dup
XM_005271561.3:c.7876_7877dup (ATM)	XP_005271618.2:p.Tyr2627LeufsTer5
XM_005271562.3:c.7876_7877dup (ATM)	XP_005271619.2:p.Tyr2627LeufsTer5
XM_006718843.2:c.7876_7877dup (ATM)	XP_006718906.1:p.Tyr2627LeufsTer5
XM_006718845.1:c.3832_3833dup (ATM)	XP_006718908.1:p.Tyr1279LeufsTer5
XM_011542840.1:c.7876_7877dup (ATM)	XP_011541142.1:p.Tyr2627LeufsTer5
XM_011542841.1:c.7876_7877dup (ATM)	XP_011541143.1:p.Tyr2627LeufsTer5
XM_011542842.1:c.7711_7712dup (ATM)	XP_011541144.1:p.Tyr2572LeufsTer5
XM_011542843.1:c.7876_7877dup (ATM)	XP_011541145.1:p.Tyr2627LeufsTer5
XM_011542844.1:c.6832_6833dup (ATM)	XP_011541146.1:p.Tyr2279LeufsTer5
XM_011542845.1:c.6568_6569dup (ATM)	XP_011541147.1:p.Tyr2191LeufsTer5
XM_011542847.1:c.2947_2948dup (ATM)	XP_011541149.1:p.Tyr984LeufsTer5
NM_001330368.1:c.641-23779_641-23778dup (C11orf65)	NP_001317297.1:n.641-23779_641-23778dup
NM_001351110.1:c.*38+2370_*38+2371dup (C11orf65)	NP_001338039.1:n.*38+2370_*38+2371dup
NM_001351834.1:c.7876_7877dup (ATM)	NP_001338763.1:p.Tyr2627LeufsTer5
NR_147053.2:n.2375-1283_2375-1282dup (C11orf65)
XM_005271414.4:c.*39-1283_*39-1282dup (C11orf65)	XP_005271471.1:n.*39-1283_*39-1282dup
XM_005271415.4:c.805-1283_805-1282dup (C11orf65)	XP_005271472.1:n.805-1283_805-1282dup
XM_005271562.5:c.7876_7877dup (ATM)	XP_005271619.2:p.Tyr2627LeufsTer5
XM_006718843.4:c.7876_7877dup (ATM)	XP_006718906.1:p.Tyr2627LeufsTer5
XM_006718845.2:c.3832_3833dup (ATM)	XP_006718908.1:p.Tyr1279LeufsTer5
XM_011542840.3:c.7876_7877dup (ATM)	XP_011541142.1:p.Tyr2627LeufsTer5
XM_011542842.3:c.7711_7712dup (ATM)	XP_011541144.1:p.Tyr2572LeufsTer5
XM_011542843.2:c.7876_7877dup (ATM)	XP_011541145.1:p.Tyr2627LeufsTer5
XM_011542844.3:c.6832_6833dup (ATM)	XP_011541146.1:p.Tyr2279LeufsTer5
XM_011542845.2:c.6568_6569dup (ATM)	XP_011541147.1:p.Tyr2191LeufsTer5
XM_017017789.2:c.7876_7877dup (ATM)	XP_016873278.1:p.Tyr2627LeufsTer5
XM_017017790.2:c.7876_7877dup (ATM)	XP_016873279.1:p.Tyr2627LeufsTer5
NM_001330368.2:c.641-23779_641-23778dup (C11orf65)	NP_001317297.1:n.641-23779_641-23778dup
NM_001351110.2:c.*38+2370_*38+2371dup (C11orf65)	NP_001338039.1:n.*38+2370_*38+2371dup
NM_001351834.2:c.7876_7877dup (ATM)	NP_001338763.1:p.Tyr2627LeufsTer5
NM_000051.4:c.7876_7877dup (ATM) MANE Select	NP_000042.3:p.Tyr2627LeufsTer5
NR_147053.3:n.2373-1283_2373-1282dup (C11orf65)