Canonical Allele Identifier: CA1998812741

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335855_108335873delinsACCTGAGACAAGATGCTGT , CM000673.2:g.108335855_108335873delinsACCTGAGACAAGATGCTGT	GRCh38
NC_000011.9:g.108206582_108206600delinsACCTGAGACAAGATGCTGT , CM000673.1:g.108206582_108206600delinsACCTGAGACAAGATGCTGT	GRCh37
NC_000011.8:g.107711792_107711810delinsACCTGAGACAAGATGCTGT	NCBI36
NG_009830.1:g.118024_118042delinsACCTGAGACAAGATGCTGT , LRG_135:g.118024_118042delinsACCTGAGACAAGATGCTGT
NG_054724.1:g.138960_138978delinsACAGCATCTTGTCTCAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000388058.2:p.Asp2721=
ENST00000713593.1:c.*7633_*7651delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000518889.1:n.*7633_*7651delinsACCTGAGACAAGATGCTGT
ENST00000278616.9:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000278616.4:p.Asp2721=
ENST00000525056.2:n.2581_2599delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000638786.2:n.860_878delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000682286.1:n.2919_2937delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000682302.1:n.2580_2598delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000683174.1:n.9646_9664delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000683524.1:n.3386_3404delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000684152.1:n.3578_3596delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000684180.1:n.636_654delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000684447.1:n.4655_4673delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000527805.6:c.*3226_*3244delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000435747.2:n.*3226_*3244delinsACCTGAGACAAGATGCTGT
ENST00000675595.1:c.*3297_*3315delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000502563.1:n.*3297_*3315delinsACCTGAGACAAGATGCTGT
ENST00000675843.1:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM) MANE Select	ENSP00000501606.1:p.Asp2721=
ENST00000278616.8:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000278616.4:p.Asp2721=
ENST00000452508.6:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	ENSP00000388058.2:p.Asp2721=
ENST00000524755.5:c.227-581_227-563delinsACAGCATCTTGTCTCAGGT (C11orf65)
ENST00000524792.5:n.4377_4395delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000525056.1:n.359_377delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000525729.5:c.641-26802_641-26784delinsACAGCATCTTGTCTCAGGT (C11orf65)	ENSP00000433395.1:n.641-26802_641-26784delinsACAGCATCTTGTCTCA...
ENST00000527531.5:c.*1197-581_*1197-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	ENSP00000431706.1:n.*1197-581_*1197-563delinsACAGCATCTTGTCTCA...
ENST00000533979.5:n.374_392delinsACCTGAGACAAGATGCTGT (ATM)
ENST00000615746.4:c.*1197-581_*1197-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	ENSP00000483537.1:n.*1197-581_*1197-563delinsACAGCATCTTGTCTCA...
NM_000051.3:c.8162_8180delinsACCTGAGACAAGATGCTGT , LRG_135t1:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	NP_000042.3:p.Asp2721=
XM_005271414.3:c.788-581_788-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	XP_005271471.1:n.788-581_788-563delinsACAGCATCTTGTCTCAGGT
XM_005271415.3:c.732-581_732-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	XP_005271472.1:n.732-581_732-563delinsACAGCATCTTGTCTCAGGT
XM_005271561.3:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_005271618.2:p.Asp2721=
XM_005271562.3:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_005271619.2:p.Asp2721=
XM_006718843.2:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_006718906.1:p.Asp2721=
XM_006718845.1:c.4118_4136delinsACCTGAGACAAGATGCTGT (ATM)	XP_006718908.1:p.Asp1373=
XM_011542840.1:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541142.1:p.Asp2721=
XM_011542841.1:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541143.1:p.Asp2721=
XM_011542842.1:c.7997_8015delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541144.1:p.Asp2666=
XM_011542843.1:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541145.1:p.Asp2721=
XM_011542844.1:c.7118_7136delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541146.1:p.Asp2373=
XM_011542845.1:c.6854_6872delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541147.1:p.Asp2285=
XM_011542847.1:c.3233_3251delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541149.1:p.Asp1078=
NM_001330368.1:c.641-26802_641-26784delinsACAGCATCTTGTCTCAGGT (C11orf65)	NP_001317297.1:n.641-26802_641-26784delinsACAGCATCTTGTCTCAGGT...
NM_001351110.1:c.695-581_695-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	NP_001338039.1:n.695-581_695-563delinsACAGCATCTTGTCTCAGGT
NM_001351834.1:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	NP_001338763.1:p.Asp2721=
NR_147053.2:n.2302-581_2302-563delinsACAGCATCTTGTCTCAGGT (C11orf65)
XM_005271414.4:c.788-581_788-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	XP_005271471.1:n.788-581_788-563delinsACAGCATCTTGTCTCAGGT
XM_005271415.4:c.732-581_732-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	XP_005271472.1:n.732-581_732-563delinsACAGCATCTTGTCTCAGGT
XM_005271562.5:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_005271619.2:p.Asp2721=
XM_006718843.4:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_006718906.1:p.Asp2721=
XM_006718845.2:c.4118_4136delinsACCTGAGACAAGATGCTGT (ATM)	XP_006718908.1:p.Asp1373=
XM_011542840.3:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541142.1:p.Asp2721=
XM_011542842.3:c.7997_8015delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541144.1:p.Asp2666=
XM_011542843.2:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541145.1:p.Asp2721=
XM_011542844.3:c.7118_7136delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541146.1:p.Asp2373=
XM_011542845.2:c.6854_6872delinsACCTGAGACAAGATGCTGT (ATM)	XP_011541147.1:p.Asp2285=
XM_017017789.2:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_016873278.1:p.Asp2721=
XM_017017790.2:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	XP_016873279.1:p.Asp2721=
NM_001330368.2:c.641-26802_641-26784delinsACAGCATCTTGTCTCAGGT (C11orf65)	NP_001317297.1:n.641-26802_641-26784delinsACAGCATCTTGTCTCAGGT...
NM_001351110.2:c.695-581_695-563delinsACAGCATCTTGTCTCAGGT (C11orf65)	NP_001338039.1:n.695-581_695-563delinsACAGCATCTTGTCTCAGGT
NM_001351834.2:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM)	NP_001338763.1:p.Asp2721=
NM_000051.4:c.8162_8180delinsACCTGAGACAAGATGCTGT (ATM) MANE Select	NP_000042.3:p.Asp2721=
NR_147053.3:n.2300-581_2300-563delinsACAGCATCTTGTCTCAGGT (C11orf65)