Canonical Allele Identifier: CA2602464804

Gene: ATM C11orf65

Linked Data

• gnomAD v3: 11-108354070-A-AACACACACAAAC
• gnomAD v4: 11-108354070-A-AACACACACAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354079_108354080insAACACACACACA , CM000673.2:g.108354079_108354080insAACACACACACA	GRCh38
NC_000011.9:g.108224806_108224807insAACACACACACA , CM000673.1:g.108224806_108224807insAACACACACACA	GRCh37
NC_000011.8:g.107730016_107730017insAACACACACACA	NCBI36
NG_009830.1:g.136248_136249insAACACACACACA , LRG_135:g.136248_136249insAACACACACACA
NG_054724.1:g.120762_120763insGTTTGTGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+199_8786+200insAACACACACACA (ATM)	ENSP00000388058.2:n.8786+199_8786+200insAACACACACACA
ENST00000713593.1:c.*8257+199_*8257+200insAACACACACACA (ATM)	ENSP00000518889.1:n.*8257+199_*8257+200insAACACACACACA
ENST00000278616.9:c.8786+199_8786+200insAACACACACACA (ATM)	ENSP00000278616.4:n.8786+199_8786+200insAACACACACACA
ENST00000638786.2:n.1484+199_1484+200insAACACACACACA (ATM)
ENST00000682286.1:n.3543+199_3543+200insAACACACACACA (ATM)
ENST00000682302.1:n.3204+199_3204+200insAACACACACACA (ATM)
ENST00000683174.1:n.10270+199_10270+200insAACACACACACA (ATM)
ENST00000683524.1:n.4010+199_4010+200insAACACACACACA (ATM)
ENST00000684152.1:n.4202+199_4202+200insAACACACACACA (ATM)
ENST00000684180.1:n.1260+199_1260+200insAACACACACACA (ATM)
ENST00000684447.1:n.5279+199_5279+200insAACACACACACA (ATM)
ENST00000527805.6:c.*3850+199_*3850+200insAACACACACACA (ATM)	ENSP00000435747.2:n.*3850+199_*3850+200insAACACACACACA
ENST00000675595.1:c.*3921+199_*3921+200insAACACACACACA (ATM)	ENSP00000502563.1:n.*3921+199_*3921+200insAACACACACACA
ENST00000675843.1:c.8786+199_8786+200insAACACACACACA (ATM) MANE Select	ENSP00000501606.1:n.8786+199_8786+200insAACACACACACA
ENST00000278616.8:c.8786+199_8786+200insAACACACACACA (ATM)	ENSP00000278616.4:n.8786+199_8786+200insAACACACACACA
ENST00000452508.6:c.8786+199_8786+200insAACACACACACA (ATM)	ENSP00000388058.2:n.8786+199_8786+200insAACACACACACA
ENST00000524755.5:c.227-18779_227-18778insGTTTGTGTGTGT (C11orf65)
ENST00000524792.5:n.5001+199_5001+200insAACACACACACA (ATM)
ENST00000525178.5:n.274+199_274+200insAACACACACACA (ATM)
ENST00000525729.5:c.640+31849_640+31850insGTTTGTGTGTGT (C11orf65)	ENSP00000433395.1:n.640+31849_640+31850insGTTTGTGTGTGT
ENST00000526725.1:n.272-13707_272-13706insGTTTGTGTGTGT (C11orf65)
ENST00000527181.1:n.125+199_125+200insAACACACACACA (ATM)
ENST00000527531.5:c.*1196+844_*1196+845insGTTTGTGTGTGT (C11orf65)	ENSP00000431706.1:n.*1196+844_*1196+845insGTTTGTGTGTGT
ENST00000615746.4:c.*1196+844_*1196+845insGTTTGTGTGTGT (C11orf65)	ENSP00000483537.1:n.*1196+844_*1196+845insGTTTGTGTGTGT
NM_000051.3:c.8786+199_8786+200insAACACACACACA , LRG_135t1:c.8786+199_8786+200insAACACACACACA (ATM)	NP_000042.3:n.8786+199_8786+200insAACACACACACA
XM_005271414.3:c.788-18779_788-18778insGTTTGTGTGTGT (C11orf65)	XP_005271471.1:n.788-18779_788-18778insGTTTGTGTGTGT
XM_005271415.3:c.732-18779_732-18778insGTTTGTGTGTGT (C11orf65)	XP_005271472.1:n.732-18779_732-18778insGTTTGTGTGTGT
XM_005271561.3:c.8786+199_8786+200insAACACACACACA (ATM)	XP_005271618.2:n.8786+199_8786+200insAACACACACACA
XM_005271562.3:c.8786+199_8786+200insAACACACACACA (ATM)	XP_005271619.2:n.8786+199_8786+200insAACACACACACA
XM_006718843.2:c.8786+199_8786+200insAACACACACACA (ATM)	XP_006718906.1:n.8786+199_8786+200insAACACACACACA
XM_006718845.1:c.4742+199_4742+200insAACACACACACA (ATM)	XP_006718908.1:n.4742+199_4742+200insAACACACACACA
XM_011542640.1:c.788-13707_788-13706insGTTTGTGTGTGT (C11orf65)	XP_011540942.1:n.788-13707_788-13706insGTTTGTGTGTGT
XM_011542642.1:c.732-4998_732-4997insGTTTGTGTGTGT (C11orf65)	XP_011540944.1:n.732-4998_732-4997insGTTTGTGTGTGT
XM_011542643.1:c.732-13707_732-13706insGTTTGTGTGTGT (C11orf65)	XP_011540945.1:n.732-13707_732-13706insGTTTGTGTGTGT
XM_011542840.1:c.8786+199_8786+200insAACACACACACA (ATM)	XP_011541142.1:n.8786+199_8786+200insAACACACACACA
XM_011542841.1:c.8786+199_8786+200insAACACACACACA (ATM)	XP_011541143.1:n.8786+199_8786+200insAACACACACACA
XM_011542842.1:c.8621+199_8621+200insAACACACACACA (ATM)	XP_011541144.1:n.8621+199_8621+200insAACACACACACA
XM_011542844.1:c.7742+199_7742+200insAACACACACACA (ATM)	XP_011541146.1:n.7742+199_7742+200insAACACACACACA
XM_011542845.1:c.7478+199_7478+200insAACACACACACA (ATM)	XP_011541147.1:n.7478+199_7478+200insAACACACACACA
XM_011542847.1:c.3857+199_3857+200insAACACACACACA (ATM)	XP_011541149.1:n.3857+199_3857+200insAACACACACACA
NM_001330368.1:c.640+31849_640+31850insGTTTGTGTGTGT (C11orf65)	NP_001317297.1:n.640+31849_640+31850insGTTTGTGTGTGT
NM_001351110.1:c.695-18779_695-18778insGTTTGTGTGTGT (C11orf65)	NP_001338039.1:n.695-18779_695-18778insGTTTGTGTGTGT
NM_001351834.1:c.8786+199_8786+200insAACACACACACA (ATM)	NP_001338763.1:n.8786+199_8786+200insAACACACACACA
NR_147053.2:n.2301+844_2301+845insGTTTGTGTGTGT (C11orf65)
XM_005271414.4:c.788-18779_788-18778insGTTTGTGTGTGT (C11orf65)	XP_005271471.1:n.788-18779_788-18778insGTTTGTGTGTGT
XM_005271415.4:c.732-18779_732-18778insGTTTGTGTGTGT (C11orf65)	XP_005271472.1:n.732-18779_732-18778insGTTTGTGTGTGT
XM_005271562.5:c.8786+199_8786+200insAACACACACACA (ATM)	XP_005271619.2:n.8786+199_8786+200insAACACACACACA
XM_006718843.4:c.8786+199_8786+200insAACACACACACA (ATM)	XP_006718906.1:n.8786+199_8786+200insAACACACACACA
XM_006718845.2:c.4742+199_4742+200insAACACACACACA (ATM)	XP_006718908.1:n.4742+199_4742+200insAACACACACACA
XM_011542640.2:c.788-13707_788-13706insGTTTGTGTGTGT (C11orf65)	XP_011540942.1:n.788-13707_788-13706insGTTTGTGTGTGT
XM_011542643.2:c.732-13707_732-13706insGTTTGTGTGTGT (C11orf65)	XP_011540945.1:n.732-13707_732-13706insGTTTGTGTGTGT
XM_011542840.3:c.8786+199_8786+200insAACACACACACA (ATM)	XP_011541142.1:n.8786+199_8786+200insAACACACACACA
XM_011542842.3:c.8621+199_8621+200insAACACACACACA (ATM)	XP_011541144.1:n.8621+199_8621+200insAACACACACACA
XM_011542844.3:c.7742+199_7742+200insAACACACACACA (ATM)	XP_011541146.1:n.7742+199_7742+200insAACACACACACA
XM_011542845.2:c.7478+199_7478+200insAACACACACACA (ATM)	XP_011541147.1:n.7478+199_7478+200insAACACACACACA
XM_017017247.1:c.904-13707_904-13706insGTTTGTGTGTGT (C11orf65)	XP_016872736.1:n.904-13707_904-13706insGTTTGTGTGTGT
XM_017017789.2:c.8786+199_8786+200insAACACACACACA (ATM)	XP_016873278.1:n.8786+199_8786+200insAACACACACACA
XM_017017790.2:c.8786+199_8786+200insAACACACACACA (ATM)	XP_016873279.1:n.8786+199_8786+200insAACACACACACA
NM_001330368.2:c.640+31849_640+31850insGTTTGTGTGTGT (C11orf65)	NP_001317297.1:n.640+31849_640+31850insGTTTGTGTGTGT
NM_001351110.2:c.695-18779_695-18778insGTTTGTGTGTGT (C11orf65)	NP_001338039.1:n.695-18779_695-18778insGTTTGTGTGTGT
NM_001351834.2:c.8786+199_8786+200insAACACACACACA (ATM)	NP_001338763.1:n.8786+199_8786+200insAACACACACACA
NM_000051.4:c.8786+199_8786+200insAACACACACACA (ATM) MANE Select	NP_000042.3:n.8786+199_8786+200insAACACACACACA
NR_147053.3:n.2299+844_2299+845insGTTTGTGTGTGT (C11orf65)