Canonical Allele Identifier: CA1998820788
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354064_108354070delinsCACACAA , CM000673.2:g.108354064_108354070delinsCACACAA GRCh38
NC_000011.9:g.108224791_108224797delinsCACACAA , CM000673.1:g.108224791_108224797delinsCACACAA GRCh37
NC_000011.8:g.107730001_107730007delinsCACACAA NCBI36
NG_009830.1:g.136233_136239delinsCACACAA , LRG_135:g.136233_136239delinsCACACAA
NG_054724.1:g.120763_120769delinsTTGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+184_8786+190delinsCACACAA (ATM) ENSP00000388058.2:n.8786+184_8786+190delinsCACACAA
ENST00000713593.1:c.*8257+184_*8257+190delinsCACACAA (ATM) ENSP00000518889.1:n.*8257+184_*8257+190delinsCACACAA
ENST00000278616.9:c.8786+184_8786+190delinsCACACAA (ATM) ENSP00000278616.4:n.8786+184_8786+190delinsCACACAA
ENST00000638786.2:n.1484+184_1484+190delinsCACACAA (ATM)
ENST00000682286.1:n.3543+184_3543+190delinsCACACAA (ATM)
ENST00000682302.1:n.3204+184_3204+190delinsCACACAA (ATM)
ENST00000683174.1:n.10270+184_10270+190delinsCACACAA (ATM)
ENST00000683524.1:n.4010+184_4010+190delinsCACACAA (ATM)
ENST00000684152.1:n.4202+184_4202+190delinsCACACAA (ATM)
ENST00000684180.1:n.1260+184_1260+190delinsCACACAA (ATM)
ENST00000684447.1:n.5279+184_5279+190delinsCACACAA (ATM)
ENST00000527805.6:c.*3850+184_*3850+190delinsCACACAA (ATM) ENSP00000435747.2:n.*3850+184_*3850+190delinsCACACAA
ENST00000675595.1:c.*3921+184_*3921+190delinsCACACAA (ATM) ENSP00000502563.1:n.*3921+184_*3921+190delinsCACACAA
ENST00000675843.1:c.8786+184_8786+190delinsCACACAA (ATM) MANE Select ENSP00000501606.1:n.8786+184_8786+190delinsCACACAA
ENST00000278616.8:c.8786+184_8786+190delinsCACACAA (ATM) ENSP00000278616.4:n.8786+184_8786+190delinsCACACAA
ENST00000452508.6:c.8786+184_8786+190delinsCACACAA (ATM) ENSP00000388058.2:n.8786+184_8786+190delinsCACACAA
ENST00000524755.5:c.227-18778_227-18772delinsTTGTGTG (C11orf65)
ENST00000524792.5:n.5001+184_5001+190delinsCACACAA (ATM)
ENST00000525178.5:n.274+184_274+190delinsCACACAA (ATM)
ENST00000525729.5:c.640+31850_640+31856delinsTTGTGTG (C11orf65) ENSP00000433395.1:n.640+31850_640+31856delinsTTGTGTG
ENST00000526725.1:n.272-13706_272-13700delinsTTGTGTG (C11orf65)
ENST00000527181.1:n.125+184_125+190delinsCACACAA (ATM)
ENST00000527531.5:c.*1196+845_*1196+851delinsTTGTGTG (C11orf65) ENSP00000431706.1:n.*1196+845_*1196+851delinsTTGTGTG
ENST00000615746.4:c.*1196+845_*1196+851delinsTTGTGTG (C11orf65) ENSP00000483537.1:n.*1196+845_*1196+851delinsTTGTGTG
NM_000051.3:c.8786+184_8786+190delinsCACACAA , LRG_135t1:c.8786+184_8786+190delinsCACACAA (ATM) NP_000042.3:n.8786+184_8786+190delinsCACACAA
XM_005271414.3:c.788-18778_788-18772delinsTTGTGTG (C11orf65) XP_005271471.1:n.788-18778_788-18772delinsTTGTGTG
XM_005271415.3:c.732-18778_732-18772delinsTTGTGTG (C11orf65) XP_005271472.1:n.732-18778_732-18772delinsTTGTGTG
XM_005271561.3:c.8786+184_8786+190delinsCACACAA (ATM) XP_005271618.2:n.8786+184_8786+190delinsCACACAA
XM_005271562.3:c.8786+184_8786+190delinsCACACAA (ATM) XP_005271619.2:n.8786+184_8786+190delinsCACACAA
XM_006718843.2:c.8786+184_8786+190delinsCACACAA (ATM) XP_006718906.1:n.8786+184_8786+190delinsCACACAA
XM_006718845.1:c.4742+184_4742+190delinsCACACAA (ATM) XP_006718908.1:n.4742+184_4742+190delinsCACACAA
XM_011542640.1:c.788-13706_788-13700delinsTTGTGTG (C11orf65) XP_011540942.1:n.788-13706_788-13700delinsTTGTGTG
XM_011542642.1:c.732-4997_732-4991delinsTTGTGTG (C11orf65) XP_011540944.1:n.732-4997_732-4991delinsTTGTGTG
XM_011542643.1:c.732-13706_732-13700delinsTTGTGTG (C11orf65) XP_011540945.1:n.732-13706_732-13700delinsTTGTGTG
XM_011542840.1:c.8786+184_8786+190delinsCACACAA (ATM) XP_011541142.1:n.8786+184_8786+190delinsCACACAA
XM_011542841.1:c.8786+184_8786+190delinsCACACAA (ATM) XP_011541143.1:n.8786+184_8786+190delinsCACACAA
XM_011542842.1:c.8621+184_8621+190delinsCACACAA (ATM) XP_011541144.1:n.8621+184_8621+190delinsCACACAA
XM_011542844.1:c.7742+184_7742+190delinsCACACAA (ATM) XP_011541146.1:n.7742+184_7742+190delinsCACACAA
XM_011542845.1:c.7478+184_7478+190delinsCACACAA (ATM) XP_011541147.1:n.7478+184_7478+190delinsCACACAA
XM_011542847.1:c.3857+184_3857+190delinsCACACAA (ATM) XP_011541149.1:n.3857+184_3857+190delinsCACACAA
NM_001330368.1:c.640+31850_640+31856delinsTTGTGTG (C11orf65) NP_001317297.1:n.640+31850_640+31856delinsTTGTGTG
NM_001351110.1:c.695-18778_695-18772delinsTTGTGTG (C11orf65) NP_001338039.1:n.695-18778_695-18772delinsTTGTGTG
NM_001351834.1:c.8786+184_8786+190delinsCACACAA (ATM) NP_001338763.1:n.8786+184_8786+190delinsCACACAA
NR_147053.2:n.2301+845_2301+851delinsTTGTGTG (C11orf65)
XM_005271414.4:c.788-18778_788-18772delinsTTGTGTG (C11orf65) XP_005271471.1:n.788-18778_788-18772delinsTTGTGTG
XM_005271415.4:c.732-18778_732-18772delinsTTGTGTG (C11orf65) XP_005271472.1:n.732-18778_732-18772delinsTTGTGTG
XM_005271562.5:c.8786+184_8786+190delinsCACACAA (ATM) XP_005271619.2:n.8786+184_8786+190delinsCACACAA
XM_006718843.4:c.8786+184_8786+190delinsCACACAA (ATM) XP_006718906.1:n.8786+184_8786+190delinsCACACAA
XM_006718845.2:c.4742+184_4742+190delinsCACACAA (ATM) XP_006718908.1:n.4742+184_4742+190delinsCACACAA
XM_011542640.2:c.788-13706_788-13700delinsTTGTGTG (C11orf65) XP_011540942.1:n.788-13706_788-13700delinsTTGTGTG
XM_011542643.2:c.732-13706_732-13700delinsTTGTGTG (C11orf65) XP_011540945.1:n.732-13706_732-13700delinsTTGTGTG
XM_011542840.3:c.8786+184_8786+190delinsCACACAA (ATM) XP_011541142.1:n.8786+184_8786+190delinsCACACAA
XM_011542842.3:c.8621+184_8621+190delinsCACACAA (ATM) XP_011541144.1:n.8621+184_8621+190delinsCACACAA
XM_011542844.3:c.7742+184_7742+190delinsCACACAA (ATM) XP_011541146.1:n.7742+184_7742+190delinsCACACAA
XM_011542845.2:c.7478+184_7478+190delinsCACACAA (ATM) XP_011541147.1:n.7478+184_7478+190delinsCACACAA
XM_017017247.1:c.904-13706_904-13700delinsTTGTGTG (C11orf65) XP_016872736.1:n.904-13706_904-13700delinsTTGTGTG
XM_017017789.2:c.8786+184_8786+190delinsCACACAA (ATM) XP_016873278.1:n.8786+184_8786+190delinsCACACAA
XM_017017790.2:c.8786+184_8786+190delinsCACACAA (ATM) XP_016873279.1:n.8786+184_8786+190delinsCACACAA
NM_001330368.2:c.640+31850_640+31856delinsTTGTGTG (C11orf65) NP_001317297.1:n.640+31850_640+31856delinsTTGTGTG
NM_001351110.2:c.695-18778_695-18772delinsTTGTGTG (C11orf65) NP_001338039.1:n.695-18778_695-18772delinsTTGTGTG
NM_001351834.2:c.8786+184_8786+190delinsCACACAA (ATM) NP_001338763.1:n.8786+184_8786+190delinsCACACAA
NM_000051.4:c.8786+184_8786+190delinsCACACAA (ATM) MANE Select NP_000042.3:n.8786+184_8786+190delinsCACACAA
NR_147053.3:n.2299+845_2299+851delinsTTGTGTG (C11orf65)