Canonical Allele Identifier: CA1998820761
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354056_108354060delinsAATAC , CM000673.2:g.108354056_108354060delinsAATAC GRCh38
NC_000011.9:g.108224783_108224787delinsAATAC , CM000673.1:g.108224783_108224787delinsAATAC GRCh37
NC_000011.8:g.107729993_107729997delinsAATAC NCBI36
NG_009830.1:g.136225_136229delinsAATAC , LRG_135:g.136225_136229delinsAATAC
NG_054724.1:g.120773_120777delinsGTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+176_8786+180delinsAATAC (ATM) ENSP00000388058.2:n.8786+176_8786+180delinsAATAC
ENST00000713593.1:c.*8257+176_*8257+180delinsAATAC (ATM) ENSP00000518889.1:n.*8257+176_*8257+180delinsAATAC
ENST00000278616.9:c.8786+176_8786+180delinsAATAC (ATM) ENSP00000278616.4:n.8786+176_8786+180delinsAATAC
ENST00000638786.2:n.1484+176_1484+180delinsAATAC (ATM)
ENST00000682286.1:n.3543+176_3543+180delinsAATAC (ATM)
ENST00000682302.1:n.3204+176_3204+180delinsAATAC (ATM)
ENST00000683174.1:n.10270+176_10270+180delinsAATAC (ATM)
ENST00000683524.1:n.4010+176_4010+180delinsAATAC (ATM)
ENST00000684152.1:n.4202+176_4202+180delinsAATAC (ATM)
ENST00000684180.1:n.1260+176_1260+180delinsAATAC (ATM)
ENST00000684447.1:n.5279+176_5279+180delinsAATAC (ATM)
ENST00000527805.6:c.*3850+176_*3850+180delinsAATAC (ATM) ENSP00000435747.2:n.*3850+176_*3850+180delinsAATAC
ENST00000675595.1:c.*3921+176_*3921+180delinsAATAC (ATM) ENSP00000502563.1:n.*3921+176_*3921+180delinsAATAC
ENST00000675843.1:c.8786+176_8786+180delinsAATAC (ATM) MANE Select ENSP00000501606.1:n.8786+176_8786+180delinsAATAC
ENST00000278616.8:c.8786+176_8786+180delinsAATAC (ATM) ENSP00000278616.4:n.8786+176_8786+180delinsAATAC
ENST00000452508.6:c.8786+176_8786+180delinsAATAC (ATM) ENSP00000388058.2:n.8786+176_8786+180delinsAATAC
ENST00000524755.5:c.227-18768_227-18764delinsGTATT (C11orf65)
ENST00000524792.5:n.5001+176_5001+180delinsAATAC (ATM)
ENST00000525178.5:n.274+176_274+180delinsAATAC (ATM)
ENST00000525729.5:c.640+31860_640+31864delinsGTATT (C11orf65) ENSP00000433395.1:n.640+31860_640+31864delinsGTATT
ENST00000526725.1:n.272-13696_272-13692delinsGTATT (C11orf65)
ENST00000527181.1:n.125+176_125+180delinsAATAC (ATM)
ENST00000527531.5:c.*1196+855_*1196+859delinsGTATT (C11orf65) ENSP00000431706.1:n.*1196+855_*1196+859delinsGTATT
ENST00000615746.4:c.*1196+855_*1196+859delinsGTATT (C11orf65) ENSP00000483537.1:n.*1196+855_*1196+859delinsGTATT
NM_000051.3:c.8786+176_8786+180delinsAATAC , LRG_135t1:c.8786+176_8786+180delinsAATAC (ATM) NP_000042.3:n.8786+176_8786+180delinsAATAC
XM_005271414.3:c.788-18768_788-18764delinsGTATT (C11orf65) XP_005271471.1:n.788-18768_788-18764delinsGTATT
XM_005271415.3:c.732-18768_732-18764delinsGTATT (C11orf65) XP_005271472.1:n.732-18768_732-18764delinsGTATT
XM_005271561.3:c.8786+176_8786+180delinsAATAC (ATM) XP_005271618.2:n.8786+176_8786+180delinsAATAC
XM_005271562.3:c.8786+176_8786+180delinsAATAC (ATM) XP_005271619.2:n.8786+176_8786+180delinsAATAC
XM_006718843.2:c.8786+176_8786+180delinsAATAC (ATM) XP_006718906.1:n.8786+176_8786+180delinsAATAC
XM_006718845.1:c.4742+176_4742+180delinsAATAC (ATM) XP_006718908.1:n.4742+176_4742+180delinsAATAC
XM_011542640.1:c.788-13696_788-13692delinsGTATT (C11orf65) XP_011540942.1:n.788-13696_788-13692delinsGTATT
XM_011542642.1:c.732-4987_732-4983delinsGTATT (C11orf65) XP_011540944.1:n.732-4987_732-4983delinsGTATT
XM_011542643.1:c.732-13696_732-13692delinsGTATT (C11orf65) XP_011540945.1:n.732-13696_732-13692delinsGTATT
XM_011542840.1:c.8786+176_8786+180delinsAATAC (ATM) XP_011541142.1:n.8786+176_8786+180delinsAATAC
XM_011542841.1:c.8786+176_8786+180delinsAATAC (ATM) XP_011541143.1:n.8786+176_8786+180delinsAATAC
XM_011542842.1:c.8621+176_8621+180delinsAATAC (ATM) XP_011541144.1:n.8621+176_8621+180delinsAATAC
XM_011542844.1:c.7742+176_7742+180delinsAATAC (ATM) XP_011541146.1:n.7742+176_7742+180delinsAATAC
XM_011542845.1:c.7478+176_7478+180delinsAATAC (ATM) XP_011541147.1:n.7478+176_7478+180delinsAATAC
XM_011542847.1:c.3857+176_3857+180delinsAATAC (ATM) XP_011541149.1:n.3857+176_3857+180delinsAATAC
NM_001330368.1:c.640+31860_640+31864delinsGTATT (C11orf65) NP_001317297.1:n.640+31860_640+31864delinsGTATT
NM_001351110.1:c.695-18768_695-18764delinsGTATT (C11orf65) NP_001338039.1:n.695-18768_695-18764delinsGTATT
NM_001351834.1:c.8786+176_8786+180delinsAATAC (ATM) NP_001338763.1:n.8786+176_8786+180delinsAATAC
NR_147053.2:n.2301+855_2301+859delinsGTATT (C11orf65)
XM_005271414.4:c.788-18768_788-18764delinsGTATT (C11orf65) XP_005271471.1:n.788-18768_788-18764delinsGTATT
XM_005271415.4:c.732-18768_732-18764delinsGTATT (C11orf65) XP_005271472.1:n.732-18768_732-18764delinsGTATT
XM_005271562.5:c.8786+176_8786+180delinsAATAC (ATM) XP_005271619.2:n.8786+176_8786+180delinsAATAC
XM_006718843.4:c.8786+176_8786+180delinsAATAC (ATM) XP_006718906.1:n.8786+176_8786+180delinsAATAC
XM_006718845.2:c.4742+176_4742+180delinsAATAC (ATM) XP_006718908.1:n.4742+176_4742+180delinsAATAC
XM_011542640.2:c.788-13696_788-13692delinsGTATT (C11orf65) XP_011540942.1:n.788-13696_788-13692delinsGTATT
XM_011542643.2:c.732-13696_732-13692delinsGTATT (C11orf65) XP_011540945.1:n.732-13696_732-13692delinsGTATT
XM_011542840.3:c.8786+176_8786+180delinsAATAC (ATM) XP_011541142.1:n.8786+176_8786+180delinsAATAC
XM_011542842.3:c.8621+176_8621+180delinsAATAC (ATM) XP_011541144.1:n.8621+176_8621+180delinsAATAC
XM_011542844.3:c.7742+176_7742+180delinsAATAC (ATM) XP_011541146.1:n.7742+176_7742+180delinsAATAC
XM_011542845.2:c.7478+176_7478+180delinsAATAC (ATM) XP_011541147.1:n.7478+176_7478+180delinsAATAC
XM_017017247.1:c.904-13696_904-13692delinsGTATT (C11orf65) XP_016872736.1:n.904-13696_904-13692delinsGTATT
XM_017017789.2:c.8786+176_8786+180delinsAATAC (ATM) XP_016873278.1:n.8786+176_8786+180delinsAATAC
XM_017017790.2:c.8786+176_8786+180delinsAATAC (ATM) XP_016873279.1:n.8786+176_8786+180delinsAATAC
NM_001330368.2:c.640+31860_640+31864delinsGTATT (C11orf65) NP_001317297.1:n.640+31860_640+31864delinsGTATT
NM_001351110.2:c.695-18768_695-18764delinsGTATT (C11orf65) NP_001338039.1:n.695-18768_695-18764delinsGTATT
NM_001351834.2:c.8786+176_8786+180delinsAATAC (ATM) NP_001338763.1:n.8786+176_8786+180delinsAATAC
NM_000051.4:c.8786+176_8786+180delinsAATAC (ATM) MANE Select NP_000042.3:n.8786+176_8786+180delinsAATAC
NR_147053.3:n.2299+855_2299+859delinsGTATT (C11orf65)