Canonical Allele Identifier: CA2580083009

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1764297
• ClinVar RCV Id: RCV002449698

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353781_108353782del , CM000673.2:g.108353781_108353782del	GRCh38
NC_000011.9:g.108224508_108224509del , CM000673.1:g.108224508_108224509del	GRCh37
NC_000011.8:g.107729718_107729719del	NCBI36
NG_009830.1:g.135950_135951del , LRG_135:g.135950_135951del
NG_054724.1:g.121051_121052del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8687_8688del (ATM)	ENSP00000388058.2:p.Gln2896ArgfsTer8
ENST00000713593.1:c.*8158_*8159del (ATM)	ENSP00000518889.1:n.*8158_*8159del
ENST00000278616.9:c.8687_8688del (ATM)	ENSP00000278616.4:p.Gln2896ArgfsTer8
ENST00000638786.2:n.1385_1386del (ATM)
ENST00000682286.1:n.3444_3445del (ATM)
ENST00000682302.1:n.3105_3106del (ATM)
ENST00000683174.1:n.10171_10172del (ATM)
ENST00000683524.1:n.3911_3912del (ATM)
ENST00000684152.1:n.4103_4104del (ATM)
ENST00000684180.1:n.1161_1162del (ATM)
ENST00000684447.1:n.5180_5181del (ATM)
ENST00000527805.6:c.*3751_*3752del (ATM)	ENSP00000435747.2:n.*3751_*3752del
ENST00000675595.1:c.*3822_*3823del (ATM)	ENSP00000502563.1:n.*3822_*3823del
ENST00000675843.1:c.8687_8688del (ATM) MANE Select	ENSP00000501606.1:p.Gln2896ArgfsTer8
ENST00000278616.8:c.8687_8688del (ATM)	ENSP00000278616.4:p.Gln2896ArgfsTer8
ENST00000452508.6:c.8687_8688del (ATM)	ENSP00000388058.2:p.Gln2896ArgfsTer8
ENST00000524755.5:c.227-18490_227-18489del (C11orf65)
ENST00000524792.5:n.4902_4903del (ATM)
ENST00000525178.5:n.175_176del (ATM)
ENST00000525729.5:c.640+32138_640+32139del (C11orf65)	ENSP00000433395.1:n.640+32138_640+32139de...
ENST00000526725.1:n.272-13418_272-13417del (C11orf65)
ENST00000527181.1:n.26_27del (ATM)
ENST00000527531.5:c.*1196+1133_*1196+1134del (C11orf65)	ENSP00000431706.1:n.*1196+1133_*1196+1134...
ENST00000615746.4:c.*1196+1133_*1196+1134del (C11orf65)	ENSP00000483537.1:n.*1196+1133_*1196+1134...
NM_000051.3:c.8687_8688del , LRG_135t1:c.8687_8688del (ATM)	NP_000042.3:p.Gln2896ArgfsTer8
XM_005271414.3:c.788-18490_788-18489del (C11orf65)	XP_005271471.1:n.788-18490_788-18489del
XM_005271415.3:c.732-18490_732-18489del (C11orf65)	XP_005271472.1:n.732-18490_732-18489del
XM_005271561.3:c.8687_8688del (ATM)	XP_005271618.2:p.Gln2896ArgfsTer8
XM_005271562.3:c.8687_8688del (ATM)	XP_005271619.2:p.Gln2896ArgfsTer8
XM_006718843.2:c.8687_8688del (ATM)	XP_006718906.1:p.Gln2896ArgfsTer8
XM_006718845.1:c.4643_4644del (ATM)	XP_006718908.1:p.Gln1548ArgfsTer8
XM_011542640.1:c.788-13418_788-13417del (C11orf65)	XP_011540942.1:n.788-13418_788-13417del
XM_011542642.1:c.732-4709_732-4708del (C11orf65)	XP_011540944.1:n.732-4709_732-4708del
XM_011542643.1:c.732-13418_732-13417del (C11orf65)	XP_011540945.1:n.732-13418_732-13417del
XM_011542840.1:c.8687_8688del (ATM)	XP_011541142.1:p.Gln2896ArgfsTer8
XM_011542841.1:c.8687_8688del (ATM)	XP_011541143.1:p.Gln2896ArgfsTer8
XM_011542842.1:c.8522_8523del (ATM)	XP_011541144.1:p.Gln2841ArgfsTer8
XM_011542844.1:c.7643_7644del (ATM)	XP_011541146.1:p.Gln2548ArgfsTer8
XM_011542845.1:c.7379_7380del (ATM)	XP_011541147.1:p.Gln2460ArgfsTer8
XM_011542847.1:c.3758_3759del (ATM)	XP_011541149.1:p.Gln1253ArgfsTer8
NM_001330368.1:c.640+32138_640+32139del (C11orf65)	NP_001317297.1:n.640+32138_640+32139del
NM_001351110.1:c.695-18490_695-18489del (C11orf65)	NP_001338039.1:n.695-18490_695-18489del
NM_001351834.1:c.8687_8688del (ATM)	NP_001338763.1:p.Gln2896ArgfsTer8
NR_147053.2:n.2301+1133_2301+1134del (C11orf65)
XM_005271414.4:c.788-18490_788-18489del (C11orf65)	XP_005271471.1:n.788-18490_788-18489del
XM_005271415.4:c.732-18490_732-18489del (C11orf65)	XP_005271472.1:n.732-18490_732-18489del
XM_005271562.5:c.8687_8688del (ATM)	XP_005271619.2:p.Gln2896ArgfsTer8
XM_006718843.4:c.8687_8688del (ATM)	XP_006718906.1:p.Gln2896ArgfsTer8
XM_006718845.2:c.4643_4644del (ATM)	XP_006718908.1:p.Gln1548ArgfsTer8
XM_011542640.2:c.788-13418_788-13417del (C11orf65)	XP_011540942.1:n.788-13418_788-13417del
XM_011542643.2:c.732-13418_732-13417del (C11orf65)	XP_011540945.1:n.732-13418_732-13417del
XM_011542840.3:c.8687_8688del (ATM)	XP_011541142.1:p.Gln2896ArgfsTer8
XM_011542842.3:c.8522_8523del (ATM)	XP_011541144.1:p.Gln2841ArgfsTer8
XM_011542844.3:c.7643_7644del (ATM)	XP_011541146.1:p.Gln2548ArgfsTer8
XM_011542845.2:c.7379_7380del (ATM)	XP_011541147.1:p.Gln2460ArgfsTer8
XM_017017247.1:c.904-13418_904-13417del (C11orf65)	XP_016872736.1:n.904-13418_904-13417del
XM_017017789.2:c.8687_8688del (ATM)	XP_016873278.1:p.Gln2896ArgfsTer8
XM_017017790.2:c.8687_8688del (ATM)	XP_016873279.1:p.Gln2896ArgfsTer8
NM_001330368.2:c.640+32138_640+32139del (C11orf65)	NP_001317297.1:n.640+32138_640+32139del
NM_001351110.2:c.695-18490_695-18489del (C11orf65)	NP_001338039.1:n.695-18490_695-18489del
NM_001351834.2:c.8687_8688del (ATM)	NP_001338763.1:p.Gln2896ArgfsTer8
NM_000051.4:c.8687_8688del (ATM) MANE Select	NP_000042.3:p.Gln2896ArgfsTer8
NR_147053.3:n.2299+1133_2299+1134del (C11orf65)