Canonical Allele Identifier: CA1998811871

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333986_108333988delinsCTT , CM000673.2:g.108333986_108333988delinsCTT	GRCh38
NC_000011.9:g.108204713_108204715delinsCTT , CM000673.1:g.108204713_108204715delinsCTT	GRCh37
NC_000011.8:g.107709923_107709925delinsCTT	NCBI36
NG_009830.1:g.116155_116157delinsCTT , LRG_135:g.116155_116157delinsCTT
NG_054724.1:g.140845_140847delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8010+18_8010+20delinsCTT (ATM)	ENSP00000388058.2:n.8010+18_8010+20delinsCTT
ENST00000713593.1:c.*7481+18_*7481+20delinsCTT (ATM)	ENSP00000518889.1:n.*7481+18_*7481+20delinsCTT
ENST00000278616.9:c.8010+18_8010+20delinsCTT (ATM)	ENSP00000278616.4:n.8010+18_8010+20delinsCTT
ENST00000525056.2:n.2429+18_2429+20delinsCTT (ATM)
ENST00000638786.2:n.708+18_708+20delinsCTT (ATM)
ENST00000682286.1:n.2767+18_2767+20delinsCTT (ATM)
ENST00000682302.1:n.2428+18_2428+20delinsCTT (ATM)
ENST00000683174.1:n.9494+18_9494+20delinsCTT (ATM)
ENST00000683524.1:n.3234+18_3234+20delinsCTT (ATM)
ENST00000684152.1:n.3426+18_3426+20delinsCTT (ATM)
ENST00000684180.1:n.484+18_484+20delinsCTT (ATM)
ENST00000684447.1:n.4503+18_4503+20delinsCTT (ATM)
ENST00000527805.6:c.*3074+18_*3074+20delinsCTT (ATM)	ENSP00000435747.2:n.*3074+18_*3074+20delinsCTT
ENST00000675595.1:c.*3145+18_*3145+20delinsCTT (ATM)	ENSP00000502563.1:n.*3145+18_*3145+20delinsCTT
ENST00000675843.1:c.8010+18_8010+20delinsCTT (ATM) MANE Select	ENSP00000501606.1:n.8010+18_8010+20delinsCTT
ENST00000278616.8:c.8010+18_8010+20delinsCTT (ATM)	ENSP00000278616.4:n.8010+18_8010+20delinsCTT
ENST00000452508.6:c.8010+18_8010+20delinsCTT (ATM)	ENSP00000388058.2:n.8010+18_8010+20delinsCTT
ENST00000524755.5:c.299+1232_299+1234delinsAAG (C11orf65)
ENST00000524792.5:n.4225+18_4225+20delinsCTT (ATM)
ENST00000525056.1:n.207+18_207+20delinsCTT (ATM)
ENST00000525729.5:c.641-24917_641-24915delinsAAG (C11orf65)	ENSP00000433395.1:n.641-24917_641-24915delinsAAG
ENST00000527531.5:c.*1269+1232_*1269+1234delinsAAG (C11orf65)	ENSP00000431706.1:n.*1269+1232_*1269+1234delinsAAG
ENST00000533979.5:n.222+18_222+20delinsCTT (ATM)
ENST00000615746.4:c.*1269+1232_*1269+1234delinsAAG (C11orf65)	ENSP00000483537.1:n.*1269+1232_*1269+1234delinsAAG
NM_000051.3:c.8010+18_8010+20delinsCTT , LRG_135t1:c.8010+18_8010+20delinsCTT (ATM)	NP_000042.3:n.8010+18_8010+20delinsCTT
XM_005271414.3:c.*38+1232_*38+1234delinsAAG (C11orf65)	XP_005271471.1:n.*38+1232_*38+1234delinsAAG
XM_005271415.3:c.804+1232_804+1234delinsAAG (C11orf65)	XP_005271472.1:n.804+1232_804+1234delinsAAG
XM_005271561.3:c.8010+18_8010+20delinsCTT (ATM)	XP_005271618.2:n.8010+18_8010+20delinsCTT
XM_005271562.3:c.8010+18_8010+20delinsCTT (ATM)	XP_005271619.2:n.8010+18_8010+20delinsCTT
XM_006718843.2:c.8010+18_8010+20delinsCTT (ATM)	XP_006718906.1:n.8010+18_8010+20delinsCTT
XM_006718845.1:c.3966+18_3966+20delinsCTT (ATM)	XP_006718908.1:n.3966+18_3966+20delinsCTT
XM_011542840.1:c.8010+18_8010+20delinsCTT (ATM)	XP_011541142.1:n.8010+18_8010+20delinsCTT
XM_011542841.1:c.8010+18_8010+20delinsCTT (ATM)	XP_011541143.1:n.8010+18_8010+20delinsCTT
XM_011542842.1:c.7845+18_7845+20delinsCTT (ATM)	XP_011541144.1:n.7845+18_7845+20delinsCTT
XM_011542843.1:c.8010+18_8010+20delinsCTT (ATM)	XP_011541145.1:n.8010+18_8010+20delinsCTT
XM_011542844.1:c.6966+18_6966+20delinsCTT (ATM)	XP_011541146.1:n.6966+18_6966+20delinsCTT
XM_011542845.1:c.6702+18_6702+20delinsCTT (ATM)	XP_011541147.1:n.6702+18_6702+20delinsCTT
XM_011542847.1:c.3081+18_3081+20delinsCTT (ATM)	XP_011541149.1:n.3081+18_3081+20delinsCTT
NM_001330368.1:c.641-24917_641-24915delinsAAG (C11orf65)	NP_001317297.1:n.641-24917_641-24915delinsAAG
NM_001351110.1:c.*38+1232_*38+1234delinsAAG (C11orf65)	NP_001338039.1:n.*38+1232_*38+1234delinsAAG
NM_001351834.1:c.8010+18_8010+20delinsCTT (ATM)	NP_001338763.1:n.8010+18_8010+20delinsCTT
NR_147053.2:n.2374+1232_2374+1234delinsAAG (C11orf65)
XM_005271414.4:c.*38+1232_*38+1234delinsAAG (C11orf65)	XP_005271471.1:n.*38+1232_*38+1234delinsAAG
XM_005271415.4:c.804+1232_804+1234delinsAAG (C11orf65)	XP_005271472.1:n.804+1232_804+1234delinsAAG
XM_005271562.5:c.8010+18_8010+20delinsCTT (ATM)	XP_005271619.2:n.8010+18_8010+20delinsCTT
XM_006718843.4:c.8010+18_8010+20delinsCTT (ATM)	XP_006718906.1:n.8010+18_8010+20delinsCTT
XM_006718845.2:c.3966+18_3966+20delinsCTT (ATM)	XP_006718908.1:n.3966+18_3966+20delinsCTT
XM_011542840.3:c.8010+18_8010+20delinsCTT (ATM)	XP_011541142.1:n.8010+18_8010+20delinsCTT
XM_011542842.3:c.7845+18_7845+20delinsCTT (ATM)	XP_011541144.1:n.7845+18_7845+20delinsCTT
XM_011542843.2:c.8010+18_8010+20delinsCTT (ATM)	XP_011541145.1:n.8010+18_8010+20delinsCTT
XM_011542844.3:c.6966+18_6966+20delinsCTT (ATM)	XP_011541146.1:n.6966+18_6966+20delinsCTT
XM_011542845.2:c.6702+18_6702+20delinsCTT (ATM)	XP_011541147.1:n.6702+18_6702+20delinsCTT
XM_017017789.2:c.8010+18_8010+20delinsCTT (ATM)	XP_016873278.1:n.8010+18_8010+20delinsCTT
XM_017017790.2:c.8010+18_8010+20delinsCTT (ATM)	XP_016873279.1:n.8010+18_8010+20delinsCTT
NM_001330368.2:c.641-24917_641-24915delinsAAG (C11orf65)	NP_001317297.1:n.641-24917_641-24915delinsAAG
NM_001351110.2:c.*38+1232_*38+1234delinsAAG (C11orf65)	NP_001338039.1:n.*38+1232_*38+1234delinsAAG
NM_001351834.2:c.8010+18_8010+20delinsCTT (ATM)	NP_001338763.1:n.8010+18_8010+20delinsCTT
NM_000051.4:c.8010+18_8010+20delinsCTT (ATM) MANE Select	NP_000042.3:n.8010+18_8010+20delinsCTT
NR_147053.3:n.2372+1232_2372+1234delinsAAG (C11orf65)