Canonical Allele Identifier: CA1998811870

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333983_108333985delinsACT , CM000673.2:g.108333983_108333985delinsACT	GRCh38
NC_000011.9:g.108204710_108204712delinsACT , CM000673.1:g.108204710_108204712delinsACT	GRCh37
NC_000011.8:g.107709920_107709922delinsACT	NCBI36
NG_009830.1:g.116152_116154delinsACT , LRG_135:g.116152_116154delinsACT
NG_054724.1:g.140848_140850delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8010+15_8010+17delinsACT (ATM)	ENSP00000388058.2:n.8010+15_8010+17delinsACT
ENST00000713593.1:c.*7481+15_*7481+17delinsACT (ATM)	ENSP00000518889.1:n.*7481+15_*7481+17delinsACT
ENST00000278616.9:c.8010+15_8010+17delinsACT (ATM)	ENSP00000278616.4:n.8010+15_8010+17delinsACT
ENST00000525056.2:n.2429+15_2429+17delinsACT (ATM)
ENST00000638786.2:n.708+15_708+17delinsACT (ATM)
ENST00000682286.1:n.2767+15_2767+17delinsACT (ATM)
ENST00000682302.1:n.2428+15_2428+17delinsACT (ATM)
ENST00000683174.1:n.9494+15_9494+17delinsACT (ATM)
ENST00000683524.1:n.3234+15_3234+17delinsACT (ATM)
ENST00000684152.1:n.3426+15_3426+17delinsACT (ATM)
ENST00000684180.1:n.484+15_484+17delinsACT (ATM)
ENST00000684447.1:n.4503+15_4503+17delinsACT (ATM)
ENST00000527805.6:c.*3074+15_*3074+17delinsACT (ATM)	ENSP00000435747.2:n.*3074+15_*3074+17delinsACT
ENST00000675595.1:c.*3145+15_*3145+17delinsACT (ATM)	ENSP00000502563.1:n.*3145+15_*3145+17delinsACT
ENST00000675843.1:c.8010+15_8010+17delinsACT (ATM) MANE Select	ENSP00000501606.1:n.8010+15_8010+17delinsACT
ENST00000278616.8:c.8010+15_8010+17delinsACT (ATM)	ENSP00000278616.4:n.8010+15_8010+17delinsACT
ENST00000452508.6:c.8010+15_8010+17delinsACT (ATM)	ENSP00000388058.2:n.8010+15_8010+17delinsACT
ENST00000524755.5:c.299+1235_299+1237delinsAGT (C11orf65)
ENST00000524792.5:n.4225+15_4225+17delinsACT (ATM)
ENST00000525056.1:n.207+15_207+17delinsACT (ATM)
ENST00000525729.5:c.641-24914_641-24912delinsAGT (C11orf65)	ENSP00000433395.1:n.641-24914_641-24912delinsAGT
ENST00000527531.5:c.*1269+1235_*1269+1237delinsAGT (C11orf65)	ENSP00000431706.1:n.*1269+1235_*1269+1237delinsAGT
ENST00000533979.5:n.222+15_222+17delinsACT (ATM)
ENST00000615746.4:c.*1269+1235_*1269+1237delinsAGT (C11orf65)	ENSP00000483537.1:n.*1269+1235_*1269+1237delinsAGT
NM_000051.3:c.8010+15_8010+17delinsACT , LRG_135t1:c.8010+15_8010+17delinsACT (ATM)	NP_000042.3:n.8010+15_8010+17delinsACT
XM_005271414.3:c.*38+1235_*38+1237delinsAGT (C11orf65)	XP_005271471.1:n.*38+1235_*38+1237delinsAGT
XM_005271415.3:c.804+1235_804+1237delinsAGT (C11orf65)	XP_005271472.1:n.804+1235_804+1237delinsAGT
XM_005271561.3:c.8010+15_8010+17delinsACT (ATM)	XP_005271618.2:n.8010+15_8010+17delinsACT
XM_005271562.3:c.8010+15_8010+17delinsACT (ATM)	XP_005271619.2:n.8010+15_8010+17delinsACT
XM_006718843.2:c.8010+15_8010+17delinsACT (ATM)	XP_006718906.1:n.8010+15_8010+17delinsACT
XM_006718845.1:c.3966+15_3966+17delinsACT (ATM)	XP_006718908.1:n.3966+15_3966+17delinsACT
XM_011542840.1:c.8010+15_8010+17delinsACT (ATM)	XP_011541142.1:n.8010+15_8010+17delinsACT
XM_011542841.1:c.8010+15_8010+17delinsACT (ATM)	XP_011541143.1:n.8010+15_8010+17delinsACT
XM_011542842.1:c.7845+15_7845+17delinsACT (ATM)	XP_011541144.1:n.7845+15_7845+17delinsACT
XM_011542843.1:c.8010+15_8010+17delinsACT (ATM)	XP_011541145.1:n.8010+15_8010+17delinsACT
XM_011542844.1:c.6966+15_6966+17delinsACT (ATM)	XP_011541146.1:n.6966+15_6966+17delinsACT
XM_011542845.1:c.6702+15_6702+17delinsACT (ATM)	XP_011541147.1:n.6702+15_6702+17delinsACT
XM_011542847.1:c.3081+15_3081+17delinsACT (ATM)	XP_011541149.1:n.3081+15_3081+17delinsACT
NM_001330368.1:c.641-24914_641-24912delinsAGT (C11orf65)	NP_001317297.1:n.641-24914_641-24912delinsAGT
NM_001351110.1:c.*38+1235_*38+1237delinsAGT (C11orf65)	NP_001338039.1:n.*38+1235_*38+1237delinsAGT
NM_001351834.1:c.8010+15_8010+17delinsACT (ATM)	NP_001338763.1:n.8010+15_8010+17delinsACT
NR_147053.2:n.2374+1235_2374+1237delinsAGT (C11orf65)
XM_005271414.4:c.*38+1235_*38+1237delinsAGT (C11orf65)	XP_005271471.1:n.*38+1235_*38+1237delinsAGT
XM_005271415.4:c.804+1235_804+1237delinsAGT (C11orf65)	XP_005271472.1:n.804+1235_804+1237delinsAGT
XM_005271562.5:c.8010+15_8010+17delinsACT (ATM)	XP_005271619.2:n.8010+15_8010+17delinsACT
XM_006718843.4:c.8010+15_8010+17delinsACT (ATM)	XP_006718906.1:n.8010+15_8010+17delinsACT
XM_006718845.2:c.3966+15_3966+17delinsACT (ATM)	XP_006718908.1:n.3966+15_3966+17delinsACT
XM_011542840.3:c.8010+15_8010+17delinsACT (ATM)	XP_011541142.1:n.8010+15_8010+17delinsACT
XM_011542842.3:c.7845+15_7845+17delinsACT (ATM)	XP_011541144.1:n.7845+15_7845+17delinsACT
XM_011542843.2:c.8010+15_8010+17delinsACT (ATM)	XP_011541145.1:n.8010+15_8010+17delinsACT
XM_011542844.3:c.6966+15_6966+17delinsACT (ATM)	XP_011541146.1:n.6966+15_6966+17delinsACT
XM_011542845.2:c.6702+15_6702+17delinsACT (ATM)	XP_011541147.1:n.6702+15_6702+17delinsACT
XM_017017789.2:c.8010+15_8010+17delinsACT (ATM)	XP_016873278.1:n.8010+15_8010+17delinsACT
XM_017017790.2:c.8010+15_8010+17delinsACT (ATM)	XP_016873279.1:n.8010+15_8010+17delinsACT
NM_001330368.2:c.641-24914_641-24912delinsAGT (C11orf65)	NP_001317297.1:n.641-24914_641-24912delinsAGT
NM_001351110.2:c.*38+1235_*38+1237delinsAGT (C11orf65)	NP_001338039.1:n.*38+1235_*38+1237delinsAGT
NM_001351834.2:c.8010+15_8010+17delinsACT (ATM)	NP_001338763.1:n.8010+15_8010+17delinsACT
NM_000051.4:c.8010+15_8010+17delinsACT (ATM) MANE Select	NP_000042.3:n.8010+15_8010+17delinsACT
NR_147053.3:n.2372+1235_2372+1237delinsAGT (C11orf65)