Canonical Allele Identifier: CA1998811949
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108334146_108334147delinsAG , CM000673.2:g.108334146_108334147delinsAG GRCh38
NC_000011.9:g.108204873_108204874delinsAG , CM000673.1:g.108204873_108204874delinsAG GRCh37
NC_000011.8:g.107710083_107710084delinsAG NCBI36
NG_009830.1:g.116315_116316delinsAG , LRG_135:g.116315_116316delinsAG
NG_054724.1:g.140686_140687delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8010+178_8010+179delinsAG (ATM) ENSP00000388058.2:n.8010+178_8010+179delinsAG
ENST00000713593.1:c.*7481+178_*7481+179delinsAG (ATM) ENSP00000518889.1:n.*7481+178_*7481+179delinsAG
ENST00000278616.9:c.8010+178_8010+179delinsAG (ATM) ENSP00000278616.4:n.8010+178_8010+179delinsAG
ENST00000525056.2:n.2429+178_2429+179delinsAG (ATM)
ENST00000638786.2:n.708+178_708+179delinsAG (ATM)
ENST00000682286.1:n.2767+178_2767+179delinsAG (ATM)
ENST00000682302.1:n.2428+178_2428+179delinsAG (ATM)
ENST00000683174.1:n.9494+178_9494+179delinsAG (ATM)
ENST00000683524.1:n.3234+178_3234+179delinsAG (ATM)
ENST00000684152.1:n.3426+178_3426+179delinsAG (ATM)
ENST00000684180.1:n.484+178_484+179delinsAG (ATM)
ENST00000684447.1:n.4503+178_4503+179delinsAG (ATM)
ENST00000527805.6:c.*3074+178_*3074+179delinsAG (ATM) ENSP00000435747.2:n.*3074+178_*3074+179delinsAG
ENST00000675595.1:c.*3145+178_*3145+179delinsAG (ATM) ENSP00000502563.1:n.*3145+178_*3145+179delinsAG
ENST00000675843.1:c.8010+178_8010+179delinsAG (ATM) MANE Select ENSP00000501606.1:n.8010+178_8010+179delinsAG
ENST00000278616.8:c.8010+178_8010+179delinsAG (ATM) ENSP00000278616.4:n.8010+178_8010+179delinsAG
ENST00000452508.6:c.8010+178_8010+179delinsAG (ATM) ENSP00000388058.2:n.8010+178_8010+179delinsAG
ENST00000524755.5:c.299+1073_299+1074delinsCT (C11orf65)
ENST00000524792.5:n.4225+178_4225+179delinsAG (ATM)
ENST00000525056.1:n.207+178_207+179delinsAG (ATM)
ENST00000525729.5:c.641-25076_641-25075delinsCT (C11orf65) ENSP00000433395.1:n.641-25076_641-25075delinsCT
ENST00000527531.5:c.*1269+1073_*1269+1074delinsCT (C11orf65) ENSP00000431706.1:n.*1269+1073_*1269+1074delinsCT
ENST00000533979.5:n.222+178_222+179delinsAG (ATM)
ENST00000615746.4:c.*1269+1073_*1269+1074delinsCT (C11orf65) ENSP00000483537.1:n.*1269+1073_*1269+1074delinsCT
NM_000051.3:c.8010+178_8010+179delinsAG , LRG_135t1:c.8010+178_8010+179delinsAG (ATM) NP_000042.3:n.8010+178_8010+179delinsAG
XM_005271414.3:c.*38+1073_*38+1074delinsCT (C11orf65) XP_005271471.1:n.*38+1073_*38+1074delinsCT
XM_005271415.3:c.804+1073_804+1074delinsCT (C11orf65) XP_005271472.1:n.804+1073_804+1074delinsCT
XM_005271561.3:c.8010+178_8010+179delinsAG (ATM) XP_005271618.2:n.8010+178_8010+179delinsAG
XM_005271562.3:c.8010+178_8010+179delinsAG (ATM) XP_005271619.2:n.8010+178_8010+179delinsAG
XM_006718843.2:c.8010+178_8010+179delinsAG (ATM) XP_006718906.1:n.8010+178_8010+179delinsAG
XM_006718845.1:c.3966+178_3966+179delinsAG (ATM) XP_006718908.1:n.3966+178_3966+179delinsAG
XM_011542840.1:c.8010+178_8010+179delinsAG (ATM) XP_011541142.1:n.8010+178_8010+179delinsAG
XM_011542841.1:c.8010+178_8010+179delinsAG (ATM) XP_011541143.1:n.8010+178_8010+179delinsAG
XM_011542842.1:c.7845+178_7845+179delinsAG (ATM) XP_011541144.1:n.7845+178_7845+179delinsAG
XM_011542843.1:c.8010+178_8010+179delinsAG (ATM) XP_011541145.1:n.8010+178_8010+179delinsAG
XM_011542844.1:c.6966+178_6966+179delinsAG (ATM) XP_011541146.1:n.6966+178_6966+179delinsAG
XM_011542845.1:c.6702+178_6702+179delinsAG (ATM) XP_011541147.1:n.6702+178_6702+179delinsAG
XM_011542847.1:c.3081+178_3081+179delinsAG (ATM) XP_011541149.1:n.3081+178_3081+179delinsAG
NM_001330368.1:c.641-25076_641-25075delinsCT (C11orf65) NP_001317297.1:n.641-25076_641-25075delinsCT
NM_001351110.1:c.*38+1073_*38+1074delinsCT (C11orf65) NP_001338039.1:n.*38+1073_*38+1074delinsCT
NM_001351834.1:c.8010+178_8010+179delinsAG (ATM) NP_001338763.1:n.8010+178_8010+179delinsAG
NR_147053.2:n.2374+1073_2374+1074delinsCT (C11orf65)
XM_005271414.4:c.*38+1073_*38+1074delinsCT (C11orf65) XP_005271471.1:n.*38+1073_*38+1074delinsCT
XM_005271415.4:c.804+1073_804+1074delinsCT (C11orf65) XP_005271472.1:n.804+1073_804+1074delinsCT
XM_005271562.5:c.8010+178_8010+179delinsAG (ATM) XP_005271619.2:n.8010+178_8010+179delinsAG
XM_006718843.4:c.8010+178_8010+179delinsAG (ATM) XP_006718906.1:n.8010+178_8010+179delinsAG
XM_006718845.2:c.3966+178_3966+179delinsAG (ATM) XP_006718908.1:n.3966+178_3966+179delinsAG
XM_011542840.3:c.8010+178_8010+179delinsAG (ATM) XP_011541142.1:n.8010+178_8010+179delinsAG
XM_011542842.3:c.7845+178_7845+179delinsAG (ATM) XP_011541144.1:n.7845+178_7845+179delinsAG
XM_011542843.2:c.8010+178_8010+179delinsAG (ATM) XP_011541145.1:n.8010+178_8010+179delinsAG
XM_011542844.3:c.6966+178_6966+179delinsAG (ATM) XP_011541146.1:n.6966+178_6966+179delinsAG
XM_011542845.2:c.6702+178_6702+179delinsAG (ATM) XP_011541147.1:n.6702+178_6702+179delinsAG
XM_017017789.2:c.8010+178_8010+179delinsAG (ATM) XP_016873278.1:n.8010+178_8010+179delinsAG
XM_017017790.2:c.8010+178_8010+179delinsAG (ATM) XP_016873279.1:n.8010+178_8010+179delinsAG
NM_001330368.2:c.641-25076_641-25075delinsCT (C11orf65) NP_001317297.1:n.641-25076_641-25075delinsCT
NM_001351110.2:c.*38+1073_*38+1074delinsCT (C11orf65) NP_001338039.1:n.*38+1073_*38+1074delinsCT
NM_001351834.2:c.8010+178_8010+179delinsAG (ATM) NP_001338763.1:n.8010+178_8010+179delinsAG
NM_000051.4:c.8010+178_8010+179delinsAG (ATM) MANE Select NP_000042.3:n.8010+178_8010+179delinsAG
NR_147053.3:n.2372+1073_2372+1074delinsCT (C11orf65)