Canonical Allele Identifier: CA1998820898

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354289_108354295delinsCTTTACT , CM000673.2:g.108354289_108354295delinsCTTTACT	GRCh38
NC_000011.9:g.108225016_108225022delinsCTTTACT , CM000673.1:g.108225016_108225022delinsCTTTACT	GRCh37
NC_000011.8:g.107730226_107730232delinsCTTTACT	NCBI36
NG_009830.1:g.136458_136464delinsCTTTACT , LRG_135:g.136458_136464delinsCTTTACT
NG_054724.1:g.120538_120544delinsAGTAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+409_8786+415delinsCTTTACT (ATM)	ENSP00000388058.2:n.8786+409_8786+415delinsCTTTACT
ENST00000713593.1:c.*8257+409_*8257+415delinsCTTTACT (ATM)	ENSP00000518889.1:n.*8257+409_*8257+415delinsCTTTACT
ENST00000278616.9:c.8786+409_8786+415delinsCTTTACT (ATM)	ENSP00000278616.4:n.8786+409_8786+415delinsCTTTACT
ENST00000638786.2:n.1484+409_1484+415delinsCTTTACT (ATM)
ENST00000682286.1:n.3543+409_3543+415delinsCTTTACT (ATM)
ENST00000682302.1:n.3204+409_3204+415delinsCTTTACT (ATM)
ENST00000683174.1:n.10270+409_10270+415delinsCTTTACT (ATM)
ENST00000683524.1:n.4010+409_4010+415delinsCTTTACT (ATM)
ENST00000684152.1:n.4202+409_4202+415delinsCTTTACT (ATM)
ENST00000684180.1:n.1260+409_1260+415delinsCTTTACT (ATM)
ENST00000684447.1:n.5279+409_5279+415delinsCTTTACT (ATM)
ENST00000527805.6:c.*3850+409_*3850+415delinsCTTTACT (ATM)	ENSP00000435747.2:n.*3850+409_*3850+415delinsCTTTACT
ENST00000675595.1:c.*3921+409_*3921+415delinsCTTTACT (ATM)	ENSP00000502563.1:n.*3921+409_*3921+415delinsCTTTACT
ENST00000675843.1:c.8786+409_8786+415delinsCTTTACT (ATM) MANE Select	ENSP00000501606.1:n.8786+409_8786+415delinsCTTTACT
ENST00000278616.8:c.8786+409_8786+415delinsCTTTACT (ATM)	ENSP00000278616.4:n.8786+409_8786+415delinsCTTTACT
ENST00000452508.6:c.8786+409_8786+415delinsCTTTACT (ATM)	ENSP00000388058.2:n.8786+409_8786+415delinsCTTTACT
ENST00000524755.5:c.227-19003_227-18997delinsAGTAAAG (C11orf65)
ENST00000524792.5:n.5001+409_5001+415delinsCTTTACT (ATM)
ENST00000525178.5:n.274+409_274+415delinsCTTTACT (ATM)
ENST00000525729.5:c.640+31625_640+31631delinsAGTAAAG (C11orf65)	ENSP00000433395.1:n.640+31625_640+31631delinsAGTAAAG
ENST00000526725.1:n.272-13931_272-13925delinsAGTAAAG (C11orf65)
ENST00000527181.1:n.125+409_125+415delinsCTTTACT (ATM)
ENST00000527531.5:c.*1196+620_*1196+626delinsAGTAAAG (C11orf65)	ENSP00000431706.1:n.*1196+620_*1196+626delinsAGTAAAG
ENST00000615746.4:c.*1196+620_*1196+626delinsAGTAAAG (C11orf65)	ENSP00000483537.1:n.*1196+620_*1196+626delinsAGTAAAG
NM_000051.3:c.8786+409_8786+415delinsCTTTACT , LRG_135t1:c.8786+409_8786+415delinsCTTTACT (ATM)	NP_000042.3:n.8786+409_8786+415delinsCTTTACT
XM_005271414.3:c.788-19003_788-18997delinsAGTAAAG (C11orf65)	XP_005271471.1:n.788-19003_788-18997delinsAGTAAAG
XM_005271415.3:c.732-19003_732-18997delinsAGTAAAG (C11orf65)	XP_005271472.1:n.732-19003_732-18997delinsAGTAAAG
XM_005271561.3:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_005271618.2:n.8786+409_8786+415delinsCTTTACT
XM_005271562.3:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_005271619.2:n.8786+409_8786+415delinsCTTTACT
XM_006718843.2:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_006718906.1:n.8786+409_8786+415delinsCTTTACT
XM_006718845.1:c.4742+409_4742+415delinsCTTTACT (ATM)	XP_006718908.1:n.4742+409_4742+415delinsCTTTACT
XM_011542640.1:c.788-13931_788-13925delinsAGTAAAG (C11orf65)	XP_011540942.1:n.788-13931_788-13925delinsAGTAAAG
XM_011542642.1:c.732-5222_732-5216delinsAGTAAAG (C11orf65)	XP_011540944.1:n.732-5222_732-5216delinsAGTAAAG
XM_011542643.1:c.732-13931_732-13925delinsAGTAAAG (C11orf65)	XP_011540945.1:n.732-13931_732-13925delinsAGTAAAG
XM_011542840.1:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_011541142.1:n.8786+409_8786+415delinsCTTTACT
XM_011542841.1:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_011541143.1:n.8786+409_8786+415delinsCTTTACT
XM_011542842.1:c.8621+409_8621+415delinsCTTTACT (ATM)	XP_011541144.1:n.8621+409_8621+415delinsCTTTACT
XM_011542844.1:c.7742+409_7742+415delinsCTTTACT (ATM)	XP_011541146.1:n.7742+409_7742+415delinsCTTTACT
XM_011542845.1:c.7478+409_7478+415delinsCTTTACT (ATM)	XP_011541147.1:n.7478+409_7478+415delinsCTTTACT
XM_011542847.1:c.3857+409_3857+415delinsCTTTACT (ATM)	XP_011541149.1:n.3857+409_3857+415delinsCTTTACT
NM_001330368.1:c.640+31625_640+31631delinsAGTAAAG (C11orf65)	NP_001317297.1:n.640+31625_640+31631delinsAGTAAAG
NM_001351110.1:c.695-19003_695-18997delinsAGTAAAG (C11orf65)	NP_001338039.1:n.695-19003_695-18997delinsAGTAAAG
NM_001351834.1:c.8786+409_8786+415delinsCTTTACT (ATM)	NP_001338763.1:n.8786+409_8786+415delinsCTTTACT
NR_147053.2:n.2301+620_2301+626delinsAGTAAAG (C11orf65)
XM_005271414.4:c.788-19003_788-18997delinsAGTAAAG (C11orf65)	XP_005271471.1:n.788-19003_788-18997delinsAGTAAAG
XM_005271415.4:c.732-19003_732-18997delinsAGTAAAG (C11orf65)	XP_005271472.1:n.732-19003_732-18997delinsAGTAAAG
XM_005271562.5:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_005271619.2:n.8786+409_8786+415delinsCTTTACT
XM_006718843.4:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_006718906.1:n.8786+409_8786+415delinsCTTTACT
XM_006718845.2:c.4742+409_4742+415delinsCTTTACT (ATM)	XP_006718908.1:n.4742+409_4742+415delinsCTTTACT
XM_011542640.2:c.788-13931_788-13925delinsAGTAAAG (C11orf65)	XP_011540942.1:n.788-13931_788-13925delinsAGTAAAG
XM_011542643.2:c.732-13931_732-13925delinsAGTAAAG (C11orf65)	XP_011540945.1:n.732-13931_732-13925delinsAGTAAAG
XM_011542840.3:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_011541142.1:n.8786+409_8786+415delinsCTTTACT
XM_011542842.3:c.8621+409_8621+415delinsCTTTACT (ATM)	XP_011541144.1:n.8621+409_8621+415delinsCTTTACT
XM_011542844.3:c.7742+409_7742+415delinsCTTTACT (ATM)	XP_011541146.1:n.7742+409_7742+415delinsCTTTACT
XM_011542845.2:c.7478+409_7478+415delinsCTTTACT (ATM)	XP_011541147.1:n.7478+409_7478+415delinsCTTTACT
XM_017017247.1:c.904-13931_904-13925delinsAGTAAAG (C11orf65)	XP_016872736.1:n.904-13931_904-13925delinsAGTAAAG
XM_017017789.2:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_016873278.1:n.8786+409_8786+415delinsCTTTACT
XM_017017790.2:c.8786+409_8786+415delinsCTTTACT (ATM)	XP_016873279.1:n.8786+409_8786+415delinsCTTTACT
NM_001330368.2:c.640+31625_640+31631delinsAGTAAAG (C11orf65)	NP_001317297.1:n.640+31625_640+31631delinsAGTAAAG
NM_001351110.2:c.695-19003_695-18997delinsAGTAAAG (C11orf65)	NP_001338039.1:n.695-19003_695-18997delinsAGTAAAG
NM_001351834.2:c.8786+409_8786+415delinsCTTTACT (ATM)	NP_001338763.1:n.8786+409_8786+415delinsCTTTACT
NM_000051.4:c.8786+409_8786+415delinsCTTTACT (ATM) MANE Select	NP_000042.3:n.8786+409_8786+415delinsCTTTACT
NR_147053.3:n.2299+620_2299+626delinsAGTAAAG (C11orf65)