Canonical Allele Identifier: CA1998820768

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354057_108354058delinsAT , CM000673.2:g.108354057_108354058delinsAT	GRCh38
NC_000011.9:g.108224784_108224785delinsAT , CM000673.1:g.108224784_108224785delinsAT	GRCh37
NC_000011.8:g.107729994_107729995delinsAT	NCBI36
NG_009830.1:g.136226_136227delinsAT , LRG_135:g.136226_136227delinsAT
NG_054724.1:g.120775_120776delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+177_8786+178delinsAT (ATM)	ENSP00000388058.2:n.8786+177_8786+178delinsAT
ENST00000713593.1:c.*8257+177_*8257+178delinsAT (ATM)	ENSP00000518889.1:n.*8257+177_*8257+178delinsAT
ENST00000278616.9:c.8786+177_8786+178delinsAT (ATM)	ENSP00000278616.4:n.8786+177_8786+178delinsAT
ENST00000638786.2:n.1484+177_1484+178delinsAT (ATM)
ENST00000682286.1:n.3543+177_3543+178delinsAT (ATM)
ENST00000682302.1:n.3204+177_3204+178delinsAT (ATM)
ENST00000683174.1:n.10270+177_10270+178delinsAT (ATM)
ENST00000683524.1:n.4010+177_4010+178delinsAT (ATM)
ENST00000684152.1:n.4202+177_4202+178delinsAT (ATM)
ENST00000684180.1:n.1260+177_1260+178delinsAT (ATM)
ENST00000684447.1:n.5279+177_5279+178delinsAT (ATM)
ENST00000527805.6:c.*3850+177_*3850+178delinsAT (ATM)	ENSP00000435747.2:n.*3850+177_*3850+178delinsAT
ENST00000675595.1:c.*3921+177_*3921+178delinsAT (ATM)	ENSP00000502563.1:n.*3921+177_*3921+178delinsAT
ENST00000675843.1:c.8786+177_8786+178delinsAT (ATM) MANE Select	ENSP00000501606.1:n.8786+177_8786+178delinsAT
ENST00000278616.8:c.8786+177_8786+178delinsAT (ATM)	ENSP00000278616.4:n.8786+177_8786+178delinsAT
ENST00000452508.6:c.8786+177_8786+178delinsAT (ATM)	ENSP00000388058.2:n.8786+177_8786+178delinsAT
ENST00000524755.5:c.227-18766_227-18765delinsAT (C11orf65)
ENST00000524792.5:n.5001+177_5001+178delinsAT (ATM)
ENST00000525178.5:n.274+177_274+178delinsAT (ATM)
ENST00000525729.5:c.640+31862_640+31863delinsAT (C11orf65)	ENSP00000433395.1:n.640+31862_640+31863delinsAT
ENST00000526725.1:n.272-13694_272-13693delinsAT (C11orf65)
ENST00000527181.1:n.125+177_125+178delinsAT (ATM)
ENST00000527531.5:c.*1196+857_*1196+858delinsAT (C11orf65)	ENSP00000431706.1:n.*1196+857_*1196+858delinsAT
ENST00000615746.4:c.*1196+857_*1196+858delinsAT (C11orf65)	ENSP00000483537.1:n.*1196+857_*1196+858delinsAT
NM_000051.3:c.8786+177_8786+178delinsAT , LRG_135t1:c.8786+177_8786+178delinsAT (ATM)	NP_000042.3:n.8786+177_8786+178delinsAT
XM_005271414.3:c.788-18766_788-18765delinsAT (C11orf65)	XP_005271471.1:n.788-18766_788-18765delinsAT
XM_005271415.3:c.732-18766_732-18765delinsAT (C11orf65)	XP_005271472.1:n.732-18766_732-18765delinsAT
XM_005271561.3:c.8786+177_8786+178delinsAT (ATM)	XP_005271618.2:n.8786+177_8786+178delinsAT
XM_005271562.3:c.8786+177_8786+178delinsAT (ATM)	XP_005271619.2:n.8786+177_8786+178delinsAT
XM_006718843.2:c.8786+177_8786+178delinsAT (ATM)	XP_006718906.1:n.8786+177_8786+178delinsAT
XM_006718845.1:c.4742+177_4742+178delinsAT (ATM)	XP_006718908.1:n.4742+177_4742+178delinsAT
XM_011542640.1:c.788-13694_788-13693delinsAT (C11orf65)	XP_011540942.1:n.788-13694_788-13693delinsAT
XM_011542642.1:c.732-4985_732-4984delinsAT (C11orf65)	XP_011540944.1:n.732-4985_732-4984delinsAT
XM_011542643.1:c.732-13694_732-13693delinsAT (C11orf65)	XP_011540945.1:n.732-13694_732-13693delinsAT
XM_011542840.1:c.8786+177_8786+178delinsAT (ATM)	XP_011541142.1:n.8786+177_8786+178delinsAT
XM_011542841.1:c.8786+177_8786+178delinsAT (ATM)	XP_011541143.1:n.8786+177_8786+178delinsAT
XM_011542842.1:c.8621+177_8621+178delinsAT (ATM)	XP_011541144.1:n.8621+177_8621+178delinsAT
XM_011542844.1:c.7742+177_7742+178delinsAT (ATM)	XP_011541146.1:n.7742+177_7742+178delinsAT
XM_011542845.1:c.7478+177_7478+178delinsAT (ATM)	XP_011541147.1:n.7478+177_7478+178delinsAT
XM_011542847.1:c.3857+177_3857+178delinsAT (ATM)	XP_011541149.1:n.3857+177_3857+178delinsAT
NM_001330368.1:c.640+31862_640+31863delinsAT (C11orf65)	NP_001317297.1:n.640+31862_640+31863delinsAT
NM_001351110.1:c.695-18766_695-18765delinsAT (C11orf65)	NP_001338039.1:n.695-18766_695-18765delinsAT
NM_001351834.1:c.8786+177_8786+178delinsAT (ATM)	NP_001338763.1:n.8786+177_8786+178delinsAT
NR_147053.2:n.2301+857_2301+858delinsAT (C11orf65)
XM_005271414.4:c.788-18766_788-18765delinsAT (C11orf65)	XP_005271471.1:n.788-18766_788-18765delinsAT
XM_005271415.4:c.732-18766_732-18765delinsAT (C11orf65)	XP_005271472.1:n.732-18766_732-18765delinsAT
XM_005271562.5:c.8786+177_8786+178delinsAT (ATM)	XP_005271619.2:n.8786+177_8786+178delinsAT
XM_006718843.4:c.8786+177_8786+178delinsAT (ATM)	XP_006718906.1:n.8786+177_8786+178delinsAT
XM_006718845.2:c.4742+177_4742+178delinsAT (ATM)	XP_006718908.1:n.4742+177_4742+178delinsAT
XM_011542640.2:c.788-13694_788-13693delinsAT (C11orf65)	XP_011540942.1:n.788-13694_788-13693delinsAT
XM_011542643.2:c.732-13694_732-13693delinsAT (C11orf65)	XP_011540945.1:n.732-13694_732-13693delinsAT
XM_011542840.3:c.8786+177_8786+178delinsAT (ATM)	XP_011541142.1:n.8786+177_8786+178delinsAT
XM_011542842.3:c.8621+177_8621+178delinsAT (ATM)	XP_011541144.1:n.8621+177_8621+178delinsAT
XM_011542844.3:c.7742+177_7742+178delinsAT (ATM)	XP_011541146.1:n.7742+177_7742+178delinsAT
XM_011542845.2:c.7478+177_7478+178delinsAT (ATM)	XP_011541147.1:n.7478+177_7478+178delinsAT
XM_017017247.1:c.904-13694_904-13693delinsAT (C11orf65)	XP_016872736.1:n.904-13694_904-13693delinsAT
XM_017017789.2:c.8786+177_8786+178delinsAT (ATM)	XP_016873278.1:n.8786+177_8786+178delinsAT
XM_017017790.2:c.8786+177_8786+178delinsAT (ATM)	XP_016873279.1:n.8786+177_8786+178delinsAT
NM_001330368.2:c.640+31862_640+31863delinsAT (C11orf65)	NP_001317297.1:n.640+31862_640+31863delinsAT
NM_001351110.2:c.695-18766_695-18765delinsAT (C11orf65)	NP_001338039.1:n.695-18766_695-18765delinsAT
NM_001351834.2:c.8786+177_8786+178delinsAT (ATM)	NP_001338763.1:n.8786+177_8786+178delinsAT
NM_000051.4:c.8786+177_8786+178delinsAT (ATM) MANE Select	NP_000042.3:n.8786+177_8786+178delinsAT
NR_147053.3:n.2299+857_2299+858delinsAT (C11orf65)