Canonical Allele Identifier: CA228419277
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs869229011

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332878del , CM000673.2:g.108332878del GRCh38
NC_000011.9:g.108203605del , CM000673.1:g.108203605del GRCh37
NC_000011.8:g.107708815del NCBI36
NG_009830.1:g.115047del , LRG_135:g.115047del
NG_054724.1:g.141956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7905del (ATM) ENSP00000388058.2:p.Thr2636LeufsTer10
ENST00000713593.1:c.*7376del (ATM) ENSP00000518889.1:n.*7376del
ENST00000278616.9:c.7905del (ATM) ENSP00000278616.4:p.Thr2636LeufsTer10
ENST00000525056.2:n.2324del (ATM)
ENST00000525537.3:n.1586del (ATM)
ENST00000638786.2:n.625+841del (ATM)
ENST00000682286.1:n.2662del (ATM)
ENST00000682302.1:n.2323del (ATM)
ENST00000683174.1:n.9389del (ATM)
ENST00000683524.1:n.3129del (ATM)
ENST00000684152.1:n.3344-1008del (ATM)
ENST00000684180.1:n.379del (ATM)
ENST00000684447.1:n.3413del (ATM)
ENST00000527805.6:c.*2969del (ATM) ENSP00000435747.2:n.*2969del
ENST00000675595.1:c.*3040del (ATM) ENSP00000502563.1:n.*3040del
ENST00000675843.1:c.7905del (ATM) MANE Select ENSP00000501606.1:p.Thr2636LeufsTer10
ENST00000278616.8:c.7905del (ATM) ENSP00000278616.4:p.Thr2636LeufsTer10
ENST00000452508.6:c.7905del (ATM) ENSP00000388058.2:p.Thr2636LeufsTer10
ENST00000524755.5:c.300-1310del (C11orf65)
ENST00000524792.5:n.4120del (ATM)
ENST00000525056.1:n.102del (ATM)
ENST00000525729.5:c.641-23806del (C11orf65) ENSP00000433395.1:n.641-23806del
ENST00000527531.5:c.*1270-1310del (C11orf65) ENSP00000431706.1:n.*1270-1310del
ENST00000533690.5:n.3309del (ATM)
ENST00000533979.5:n.117del (ATM)
ENST00000615746.4:c.*1270-1310del (C11orf65) ENSP00000483537.1:n.*1270-1310del
NM_000051.3:c.7905del , LRG_135t1:c.7905del (ATM) NP_000042.3:p.Thr2636LeufsTer10
XM_005271414.3:c.*39-1310del (C11orf65) XP_005271471.1:n.*39-1310del
XM_005271415.3:c.805-1310del (C11orf65) XP_005271472.1:n.805-1310del
XM_005271561.3:c.7905del (ATM) XP_005271618.2:p.Thr2636LeufsTer10
XM_005271562.3:c.7905del (ATM) XP_005271619.2:p.Thr2636LeufsTer10
XM_006718843.2:c.7905del (ATM) XP_006718906.1:p.Thr2636LeufsTer10
XM_006718845.1:c.3861del (ATM) XP_006718908.1:p.Thr1288LeufsTer10
XM_011542840.1:c.7905del (ATM) XP_011541142.1:p.Thr2636LeufsTer10
XM_011542841.1:c.7905del (ATM) XP_011541143.1:p.Thr2636LeufsTer10
XM_011542842.1:c.7740del (ATM) XP_011541144.1:p.Thr2581LeufsTer10
XM_011542843.1:c.7905del (ATM) XP_011541145.1:p.Thr2636LeufsTer10
XM_011542844.1:c.6861del (ATM) XP_011541146.1:p.Thr2288LeufsTer10
XM_011542845.1:c.6597del (ATM) XP_011541147.1:p.Thr2200LeufsTer10
XM_011542847.1:c.2976del (ATM) XP_011541149.1:p.Thr993LeufsTer10
NM_001330368.1:c.641-23806del (C11orf65) NP_001317297.1:n.641-23806del
NM_001351110.1:c.*38+2343del (C11orf65) NP_001338039.1:n.*38+2343del
NM_001351834.1:c.7905del (ATM) NP_001338763.1:p.Thr2636LeufsTer10
NR_147053.2:n.2375-1310del (C11orf65)
XM_005271414.4:c.*39-1310del (C11orf65) XP_005271471.1:n.*39-1310del
XM_005271415.4:c.805-1310del (C11orf65) XP_005271472.1:n.805-1310del
XM_005271562.5:c.7905del (ATM) XP_005271619.2:p.Thr2636LeufsTer10
XM_006718843.4:c.7905del (ATM) XP_006718906.1:p.Thr2636LeufsTer10
XM_006718845.2:c.3861del (ATM) XP_006718908.1:p.Thr1288LeufsTer10
XM_011542840.3:c.7905del (ATM) XP_011541142.1:p.Thr2636LeufsTer10
XM_011542842.3:c.7740del (ATM) XP_011541144.1:p.Thr2581LeufsTer10
XM_011542843.2:c.7905del (ATM) XP_011541145.1:p.Thr2636LeufsTer10
XM_011542844.3:c.6861del (ATM) XP_011541146.1:p.Thr2288LeufsTer10
XM_011542845.2:c.6597del (ATM) XP_011541147.1:p.Thr2200LeufsTer10
XM_017017789.2:c.7905del (ATM) XP_016873278.1:p.Thr2636LeufsTer10
XM_017017790.2:c.7905del (ATM) XP_016873279.1:p.Thr2636LeufsTer10
NM_001330368.2:c.641-23806del (C11orf65) NP_001317297.1:n.641-23806del
NM_001351110.2:c.*38+2343del (C11orf65) NP_001338039.1:n.*38+2343del
NM_001351834.2:c.7905del (ATM) NP_001338763.1:p.Thr2636LeufsTer10
NM_000051.4:c.7905del (ATM) MANE Select NP_000042.3:p.Thr2636LeufsTer10
NR_147053.3:n.2373-1310del (C11orf65)