Canonical Allele Identifier: CA1998811897

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108334006_108334007delinsAT , CM000673.2:g.108334006_108334007delinsAT	GRCh38
NC_000011.9:g.108204733_108204734delinsAT , CM000673.1:g.108204733_108204734delinsAT	GRCh37
NC_000011.8:g.107709943_107709944delinsAT	NCBI36
NG_009830.1:g.116175_116176delinsAT , LRG_135:g.116175_116176delinsAT
NG_054724.1:g.140826_140827delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8010+38_8010+39delinsAT (ATM)	ENSP00000388058.2:n.8010+38_8010+39delinsAT
ENST00000713593.1:c.*7481+38_*7481+39delinsAT (ATM)	ENSP00000518889.1:n.*7481+38_*7481+39delinsAT
ENST00000278616.9:c.8010+38_8010+39delinsAT (ATM)	ENSP00000278616.4:n.8010+38_8010+39delinsAT
ENST00000525056.2:n.2429+38_2429+39delinsAT (ATM)
ENST00000638786.2:n.708+38_708+39delinsAT (ATM)
ENST00000682286.1:n.2767+38_2767+39delinsAT (ATM)
ENST00000682302.1:n.2428+38_2428+39delinsAT (ATM)
ENST00000683174.1:n.9494+38_9494+39delinsAT (ATM)
ENST00000683524.1:n.3234+38_3234+39delinsAT (ATM)
ENST00000684152.1:n.3426+38_3426+39delinsAT (ATM)
ENST00000684180.1:n.484+38_484+39delinsAT (ATM)
ENST00000684447.1:n.4503+38_4503+39delinsAT (ATM)
ENST00000527805.6:c.*3074+38_*3074+39delinsAT (ATM)	ENSP00000435747.2:n.*3074+38_*3074+39delinsAT
ENST00000675595.1:c.*3145+38_*3145+39delinsAT (ATM)	ENSP00000502563.1:n.*3145+38_*3145+39delinsAT
ENST00000675843.1:c.8010+38_8010+39delinsAT (ATM) MANE Select	ENSP00000501606.1:n.8010+38_8010+39delinsAT
ENST00000278616.8:c.8010+38_8010+39delinsAT (ATM)	ENSP00000278616.4:n.8010+38_8010+39delinsAT
ENST00000452508.6:c.8010+38_8010+39delinsAT (ATM)	ENSP00000388058.2:n.8010+38_8010+39delinsAT
ENST00000524755.5:c.299+1213_299+1214delinsAT (C11orf65)
ENST00000524792.5:n.4225+38_4225+39delinsAT (ATM)
ENST00000525056.1:n.207+38_207+39delinsAT (ATM)
ENST00000525729.5:c.641-24936_641-24935delinsAT (C11orf65)	ENSP00000433395.1:n.641-24936_641-24935delinsAT
ENST00000527531.5:c.*1269+1213_*1269+1214delinsAT (C11orf65)	ENSP00000431706.1:n.*1269+1213_*1269+1214delinsAT
ENST00000533979.5:n.222+38_222+39delinsAT (ATM)
ENST00000615746.4:c.*1269+1213_*1269+1214delinsAT (C11orf65)	ENSP00000483537.1:n.*1269+1213_*1269+1214delinsAT
NM_000051.3:c.8010+38_8010+39delinsAT , LRG_135t1:c.8010+38_8010+39delinsAT (ATM)	NP_000042.3:n.8010+38_8010+39delinsAT
XM_005271414.3:c.*38+1213_*38+1214delinsAT (C11orf65)	XP_005271471.1:n.*38+1213_*38+1214delinsAT
XM_005271415.3:c.804+1213_804+1214delinsAT (C11orf65)	XP_005271472.1:n.804+1213_804+1214delinsAT
XM_005271561.3:c.8010+38_8010+39delinsAT (ATM)	XP_005271618.2:n.8010+38_8010+39delinsAT
XM_005271562.3:c.8010+38_8010+39delinsAT (ATM)	XP_005271619.2:n.8010+38_8010+39delinsAT
XM_006718843.2:c.8010+38_8010+39delinsAT (ATM)	XP_006718906.1:n.8010+38_8010+39delinsAT
XM_006718845.1:c.3966+38_3966+39delinsAT (ATM)	XP_006718908.1:n.3966+38_3966+39delinsAT
XM_011542840.1:c.8010+38_8010+39delinsAT (ATM)	XP_011541142.1:n.8010+38_8010+39delinsAT
XM_011542841.1:c.8010+38_8010+39delinsAT (ATM)	XP_011541143.1:n.8010+38_8010+39delinsAT
XM_011542842.1:c.7845+38_7845+39delinsAT (ATM)	XP_011541144.1:n.7845+38_7845+39delinsAT
XM_011542843.1:c.8010+38_8010+39delinsAT (ATM)	XP_011541145.1:n.8010+38_8010+39delinsAT
XM_011542844.1:c.6966+38_6966+39delinsAT (ATM)	XP_011541146.1:n.6966+38_6966+39delinsAT
XM_011542845.1:c.6702+38_6702+39delinsAT (ATM)	XP_011541147.1:n.6702+38_6702+39delinsAT
XM_011542847.1:c.3081+38_3081+39delinsAT (ATM)	XP_011541149.1:n.3081+38_3081+39delinsAT
NM_001330368.1:c.641-24936_641-24935delinsAT (C11orf65)	NP_001317297.1:n.641-24936_641-24935delinsAT
NM_001351110.1:c.*38+1213_*38+1214delinsAT (C11orf65)	NP_001338039.1:n.*38+1213_*38+1214delinsAT
NM_001351834.1:c.8010+38_8010+39delinsAT (ATM)	NP_001338763.1:n.8010+38_8010+39delinsAT
NR_147053.2:n.2374+1213_2374+1214delinsAT (C11orf65)
XM_005271414.4:c.*38+1213_*38+1214delinsAT (C11orf65)	XP_005271471.1:n.*38+1213_*38+1214delinsAT
XM_005271415.4:c.804+1213_804+1214delinsAT (C11orf65)	XP_005271472.1:n.804+1213_804+1214delinsAT
XM_005271562.5:c.8010+38_8010+39delinsAT (ATM)	XP_005271619.2:n.8010+38_8010+39delinsAT
XM_006718843.4:c.8010+38_8010+39delinsAT (ATM)	XP_006718906.1:n.8010+38_8010+39delinsAT
XM_006718845.2:c.3966+38_3966+39delinsAT (ATM)	XP_006718908.1:n.3966+38_3966+39delinsAT
XM_011542840.3:c.8010+38_8010+39delinsAT (ATM)	XP_011541142.1:n.8010+38_8010+39delinsAT
XM_011542842.3:c.7845+38_7845+39delinsAT (ATM)	XP_011541144.1:n.7845+38_7845+39delinsAT
XM_011542843.2:c.8010+38_8010+39delinsAT (ATM)	XP_011541145.1:n.8010+38_8010+39delinsAT
XM_011542844.3:c.6966+38_6966+39delinsAT (ATM)	XP_011541146.1:n.6966+38_6966+39delinsAT
XM_011542845.2:c.6702+38_6702+39delinsAT (ATM)	XP_011541147.1:n.6702+38_6702+39delinsAT
XM_017017789.2:c.8010+38_8010+39delinsAT (ATM)	XP_016873278.1:n.8010+38_8010+39delinsAT
XM_017017790.2:c.8010+38_8010+39delinsAT (ATM)	XP_016873279.1:n.8010+38_8010+39delinsAT
NM_001330368.2:c.641-24936_641-24935delinsAT (C11orf65)	NP_001317297.1:n.641-24936_641-24935delinsAT
NM_001351110.2:c.*38+1213_*38+1214delinsAT (C11orf65)	NP_001338039.1:n.*38+1213_*38+1214delinsAT
NM_001351834.2:c.8010+38_8010+39delinsAT (ATM)	NP_001338763.1:n.8010+38_8010+39delinsAT
NM_000051.4:c.8010+38_8010+39delinsAT (ATM) MANE Select	NP_000042.3:n.8010+38_8010+39delinsAT
NR_147053.3:n.2372+1213_2372+1214delinsAT (C11orf65)