Canonical Allele Identifier: CA2725242620

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2136623757

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108334036_108334037insGGTCATGAATGTAACAGC , CM000673.2:g.108334036_108334037insGGTCATGAATGTAACAGC	GRCh38
NC_000011.9:g.108204763_108204764insGGTCATGAATGTAACAGC , CM000673.1:g.108204763_108204764insGGTCATGAATGTAACAGC	GRCh37
NC_000011.8:g.107709973_107709974insGGTCATGAATGTAACAGC	NCBI36
NG_009830.1:g.116205_116206insGGTCATGAATGTAACAGC , LRG_135:g.116205_116206insGGTCATGAATGTAACAGC
NG_054724.1:g.140796_140797insGCTGTTACATTCATGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000388058.2:n.8010+68_8010+69insGGTCATGAATGTAACAGC
ENST00000713593.1:c.*7481+68_*7481+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000518889.1:n.*7481+68_*7481+69insGGTCATGAATGTAACAGC
ENST00000278616.9:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000278616.4:n.8010+68_8010+69insGGTCATGAATGTAACAGC
ENST00000525056.2:n.2429+68_2429+69insGGTCATGAATGTAACAGC (ATM)
ENST00000638786.2:n.708+68_708+69insGGTCATGAATGTAACAGC (ATM)
ENST00000682286.1:n.2767+68_2767+69insGGTCATGAATGTAACAGC (ATM)
ENST00000682302.1:n.2428+68_2428+69insGGTCATGAATGTAACAGC (ATM)
ENST00000683174.1:n.9494+68_9494+69insGGTCATGAATGTAACAGC (ATM)
ENST00000683524.1:n.3234+68_3234+69insGGTCATGAATGTAACAGC (ATM)
ENST00000684152.1:n.3426+68_3426+69insGGTCATGAATGTAACAGC (ATM)
ENST00000684180.1:n.484+68_484+69insGGTCATGAATGTAACAGC (ATM)
ENST00000684447.1:n.4503+68_4503+69insGGTCATGAATGTAACAGC (ATM)
ENST00000527805.6:c.*3074+68_*3074+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000435747.2:n.*3074+68_*3074+69insGGTCATGAATGTAACAGC
ENST00000675595.1:c.*3145+68_*3145+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000502563.1:n.*3145+68_*3145+69insGGTCATGAATGTAACAGC
ENST00000675843.1:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM) MANE Select	ENSP00000501606.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
ENST00000278616.8:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000278616.4:n.8010+68_8010+69insGGTCATGAATGTAACAGC
ENST00000452508.6:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	ENSP00000388058.2:n.8010+68_8010+69insGGTCATGAATGTAACAGC
ENST00000524755.5:c.299+1183_299+1184insGCTGTTACATTCATGACC (C11orf65)
ENST00000524792.5:n.4225+68_4225+69insGGTCATGAATGTAACAGC (ATM)
ENST00000525056.1:n.207+68_207+69insGGTCATGAATGTAACAGC (ATM)
ENST00000525729.5:c.641-24966_641-24965insGCTGTTACATTCATGACC (C11orf65)	ENSP00000433395.1:n.641-24966_641-24965insGCTGTTACATTCATGACC
ENST00000527531.5:c.*1269+1183_*1269+1184insGCTGTTACATTCATGACC (C11orf65)	ENSP00000431706.1:n.*1269+1183_*1269+1184insGCTGTTACATTCATGAC...
ENST00000533979.5:n.222+68_222+69insGGTCATGAATGTAACAGC (ATM)
ENST00000615746.4:c.*1269+1183_*1269+1184insGCTGTTACATTCATGACC (C11orf65)	ENSP00000483537.1:n.*1269+1183_*1269+1184insGCTGTTACATTCATGAC...
NM_000051.3:c.8010+68_8010+69insGGTCATGAATGTAACAGC , LRG_135t1:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	NP_000042.3:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_005271414.3:c.*38+1183_*38+1184insGCTGTTACATTCATGACC (C11orf65)	XP_005271471.1:n.*38+1183_*38+1184insGCTGTTACATTCATGACC
XM_005271415.3:c.804+1183_804+1184insGCTGTTACATTCATGACC (C11orf65)	XP_005271472.1:n.804+1183_804+1184insGCTGTTACATTCATGACC
XM_005271561.3:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_005271618.2:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_005271562.3:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_005271619.2:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_006718843.2:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_006718906.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_006718845.1:c.3966+68_3966+69insGGTCATGAATGTAACAGC (ATM)	XP_006718908.1:n.3966+68_3966+69insGGTCATGAATGTAACAGC
XM_011542840.1:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_011541142.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_011542841.1:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_011541143.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_011542842.1:c.7845+68_7845+69insGGTCATGAATGTAACAGC (ATM)	XP_011541144.1:n.7845+68_7845+69insGGTCATGAATGTAACAGC
XM_011542843.1:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_011541145.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_011542844.1:c.6966+68_6966+69insGGTCATGAATGTAACAGC (ATM)	XP_011541146.1:n.6966+68_6966+69insGGTCATGAATGTAACAGC
XM_011542845.1:c.6702+68_6702+69insGGTCATGAATGTAACAGC (ATM)	XP_011541147.1:n.6702+68_6702+69insGGTCATGAATGTAACAGC
XM_011542847.1:c.3081+68_3081+69insGGTCATGAATGTAACAGC (ATM)	XP_011541149.1:n.3081+68_3081+69insGGTCATGAATGTAACAGC
NM_001330368.1:c.641-24966_641-24965insGCTGTTACATTCATGACC (C11orf65)	NP_001317297.1:n.641-24966_641-24965insGCTGTTACATTCATGACC
NM_001351110.1:c.*38+1183_*38+1184insGCTGTTACATTCATGACC (C11orf65)	NP_001338039.1:n.*38+1183_*38+1184insGCTGTTACATTCATGACC
NM_001351834.1:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	NP_001338763.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
NR_147053.2:n.2374+1183_2374+1184insGCTGTTACATTCATGACC (C11orf65)
XM_005271414.4:c.*38+1183_*38+1184insGCTGTTACATTCATGACC (C11orf65)	XP_005271471.1:n.*38+1183_*38+1184insGCTGTTACATTCATGACC
XM_005271415.4:c.804+1183_804+1184insGCTGTTACATTCATGACC (C11orf65)	XP_005271472.1:n.804+1183_804+1184insGCTGTTACATTCATGACC
XM_005271562.5:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_005271619.2:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_006718843.4:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_006718906.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_006718845.2:c.3966+68_3966+69insGGTCATGAATGTAACAGC (ATM)	XP_006718908.1:n.3966+68_3966+69insGGTCATGAATGTAACAGC
XM_011542840.3:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_011541142.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_011542842.3:c.7845+68_7845+69insGGTCATGAATGTAACAGC (ATM)	XP_011541144.1:n.7845+68_7845+69insGGTCATGAATGTAACAGC
XM_011542843.2:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_011541145.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_011542844.3:c.6966+68_6966+69insGGTCATGAATGTAACAGC (ATM)	XP_011541146.1:n.6966+68_6966+69insGGTCATGAATGTAACAGC
XM_011542845.2:c.6702+68_6702+69insGGTCATGAATGTAACAGC (ATM)	XP_011541147.1:n.6702+68_6702+69insGGTCATGAATGTAACAGC
XM_017017789.2:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_016873278.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
XM_017017790.2:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	XP_016873279.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
NM_001330368.2:c.641-24966_641-24965insGCTGTTACATTCATGACC (C11orf65)	NP_001317297.1:n.641-24966_641-24965insGCTGTTACATTCATGACC
NM_001351110.2:c.*38+1183_*38+1184insGCTGTTACATTCATGACC (C11orf65)	NP_001338039.1:n.*38+1183_*38+1184insGCTGTTACATTCATGACC
NM_001351834.2:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM)	NP_001338763.1:n.8010+68_8010+69insGGTCATGAATGTAACAGC
NM_000051.4:c.8010+68_8010+69insGGTCATGAATGTAACAGC (ATM) MANE Select	NP_000042.3:n.8010+68_8010+69insGGTCATGAATGTAACAGC
NR_147053.3:n.2372+1183_2372+1184insGCTGTTACATTCATGACC (C11orf65)