Canonical Allele Identifier: CA1998820773
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354058_108354062delinsTACAC , CM000673.2:g.108354058_108354062delinsTACAC GRCh38
NC_000011.9:g.108224785_108224789delinsTACAC , CM000673.1:g.108224785_108224789delinsTACAC GRCh37
NC_000011.8:g.107729995_107729999delinsTACAC NCBI36
NG_009830.1:g.136227_136231delinsTACAC , LRG_135:g.136227_136231delinsTACAC
NG_054724.1:g.120771_120775delinsGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+178_8786+182delinsTACAC (ATM) ENSP00000388058.2:n.8786+178_8786+182delinsTACAC
ENST00000713593.1:c.*8257+178_*8257+182delinsTACAC (ATM) ENSP00000518889.1:n.*8257+178_*8257+182delinsTACAC
ENST00000278616.9:c.8786+178_8786+182delinsTACAC (ATM) ENSP00000278616.4:n.8786+178_8786+182delinsTACAC
ENST00000638786.2:n.1484+178_1484+182delinsTACAC (ATM)
ENST00000682286.1:n.3543+178_3543+182delinsTACAC (ATM)
ENST00000682302.1:n.3204+178_3204+182delinsTACAC (ATM)
ENST00000683174.1:n.10270+178_10270+182delinsTACAC (ATM)
ENST00000683524.1:n.4010+178_4010+182delinsTACAC (ATM)
ENST00000684152.1:n.4202+178_4202+182delinsTACAC (ATM)
ENST00000684180.1:n.1260+178_1260+182delinsTACAC (ATM)
ENST00000684447.1:n.5279+178_5279+182delinsTACAC (ATM)
ENST00000527805.6:c.*3850+178_*3850+182delinsTACAC (ATM) ENSP00000435747.2:n.*3850+178_*3850+182delinsTACAC
ENST00000675595.1:c.*3921+178_*3921+182delinsTACAC (ATM) ENSP00000502563.1:n.*3921+178_*3921+182delinsTACAC
ENST00000675843.1:c.8786+178_8786+182delinsTACAC (ATM) MANE Select ENSP00000501606.1:n.8786+178_8786+182delinsTACAC
ENST00000278616.8:c.8786+178_8786+182delinsTACAC (ATM) ENSP00000278616.4:n.8786+178_8786+182delinsTACAC
ENST00000452508.6:c.8786+178_8786+182delinsTACAC (ATM) ENSP00000388058.2:n.8786+178_8786+182delinsTACAC
ENST00000524755.5:c.227-18770_227-18766delinsGTGTA (C11orf65)
ENST00000524792.5:n.5001+178_5001+182delinsTACAC (ATM)
ENST00000525178.5:n.274+178_274+182delinsTACAC (ATM)
ENST00000525729.5:c.640+31858_640+31862delinsGTGTA (C11orf65) ENSP00000433395.1:n.640+31858_640+31862delinsGTGTA
ENST00000526725.1:n.272-13698_272-13694delinsGTGTA (C11orf65)
ENST00000527181.1:n.125+178_125+182delinsTACAC (ATM)
ENST00000527531.5:c.*1196+853_*1196+857delinsGTGTA (C11orf65) ENSP00000431706.1:n.*1196+853_*1196+857delinsGTGTA
ENST00000615746.4:c.*1196+853_*1196+857delinsGTGTA (C11orf65) ENSP00000483537.1:n.*1196+853_*1196+857delinsGTGTA
NM_000051.3:c.8786+178_8786+182delinsTACAC , LRG_135t1:c.8786+178_8786+182delinsTACAC (ATM) NP_000042.3:n.8786+178_8786+182delinsTACAC
XM_005271414.3:c.788-18770_788-18766delinsGTGTA (C11orf65) XP_005271471.1:n.788-18770_788-18766delinsGTGTA
XM_005271415.3:c.732-18770_732-18766delinsGTGTA (C11orf65) XP_005271472.1:n.732-18770_732-18766delinsGTGTA
XM_005271561.3:c.8786+178_8786+182delinsTACAC (ATM) XP_005271618.2:n.8786+178_8786+182delinsTACAC
XM_005271562.3:c.8786+178_8786+182delinsTACAC (ATM) XP_005271619.2:n.8786+178_8786+182delinsTACAC
XM_006718843.2:c.8786+178_8786+182delinsTACAC (ATM) XP_006718906.1:n.8786+178_8786+182delinsTACAC
XM_006718845.1:c.4742+178_4742+182delinsTACAC (ATM) XP_006718908.1:n.4742+178_4742+182delinsTACAC
XM_011542640.1:c.788-13698_788-13694delinsGTGTA (C11orf65) XP_011540942.1:n.788-13698_788-13694delinsGTGTA
XM_011542642.1:c.732-4989_732-4985delinsGTGTA (C11orf65) XP_011540944.1:n.732-4989_732-4985delinsGTGTA
XM_011542643.1:c.732-13698_732-13694delinsGTGTA (C11orf65) XP_011540945.1:n.732-13698_732-13694delinsGTGTA
XM_011542840.1:c.8786+178_8786+182delinsTACAC (ATM) XP_011541142.1:n.8786+178_8786+182delinsTACAC
XM_011542841.1:c.8786+178_8786+182delinsTACAC (ATM) XP_011541143.1:n.8786+178_8786+182delinsTACAC
XM_011542842.1:c.8621+178_8621+182delinsTACAC (ATM) XP_011541144.1:n.8621+178_8621+182delinsTACAC
XM_011542844.1:c.7742+178_7742+182delinsTACAC (ATM) XP_011541146.1:n.7742+178_7742+182delinsTACAC
XM_011542845.1:c.7478+178_7478+182delinsTACAC (ATM) XP_011541147.1:n.7478+178_7478+182delinsTACAC
XM_011542847.1:c.3857+178_3857+182delinsTACAC (ATM) XP_011541149.1:n.3857+178_3857+182delinsTACAC
NM_001330368.1:c.640+31858_640+31862delinsGTGTA (C11orf65) NP_001317297.1:n.640+31858_640+31862delinsGTGTA
NM_001351110.1:c.695-18770_695-18766delinsGTGTA (C11orf65) NP_001338039.1:n.695-18770_695-18766delinsGTGTA
NM_001351834.1:c.8786+178_8786+182delinsTACAC (ATM) NP_001338763.1:n.8786+178_8786+182delinsTACAC
NR_147053.2:n.2301+853_2301+857delinsGTGTA (C11orf65)
XM_005271414.4:c.788-18770_788-18766delinsGTGTA (C11orf65) XP_005271471.1:n.788-18770_788-18766delinsGTGTA
XM_005271415.4:c.732-18770_732-18766delinsGTGTA (C11orf65) XP_005271472.1:n.732-18770_732-18766delinsGTGTA
XM_005271562.5:c.8786+178_8786+182delinsTACAC (ATM) XP_005271619.2:n.8786+178_8786+182delinsTACAC
XM_006718843.4:c.8786+178_8786+182delinsTACAC (ATM) XP_006718906.1:n.8786+178_8786+182delinsTACAC
XM_006718845.2:c.4742+178_4742+182delinsTACAC (ATM) XP_006718908.1:n.4742+178_4742+182delinsTACAC
XM_011542640.2:c.788-13698_788-13694delinsGTGTA (C11orf65) XP_011540942.1:n.788-13698_788-13694delinsGTGTA
XM_011542643.2:c.732-13698_732-13694delinsGTGTA (C11orf65) XP_011540945.1:n.732-13698_732-13694delinsGTGTA
XM_011542840.3:c.8786+178_8786+182delinsTACAC (ATM) XP_011541142.1:n.8786+178_8786+182delinsTACAC
XM_011542842.3:c.8621+178_8621+182delinsTACAC (ATM) XP_011541144.1:n.8621+178_8621+182delinsTACAC
XM_011542844.3:c.7742+178_7742+182delinsTACAC (ATM) XP_011541146.1:n.7742+178_7742+182delinsTACAC
XM_011542845.2:c.7478+178_7478+182delinsTACAC (ATM) XP_011541147.1:n.7478+178_7478+182delinsTACAC
XM_017017247.1:c.904-13698_904-13694delinsGTGTA (C11orf65) XP_016872736.1:n.904-13698_904-13694delinsGTGTA
XM_017017789.2:c.8786+178_8786+182delinsTACAC (ATM) XP_016873278.1:n.8786+178_8786+182delinsTACAC
XM_017017790.2:c.8786+178_8786+182delinsTACAC (ATM) XP_016873279.1:n.8786+178_8786+182delinsTACAC
NM_001330368.2:c.640+31858_640+31862delinsGTGTA (C11orf65) NP_001317297.1:n.640+31858_640+31862delinsGTGTA
NM_001351110.2:c.695-18770_695-18766delinsGTGTA (C11orf65) NP_001338039.1:n.695-18770_695-18766delinsGTGTA
NM_001351834.2:c.8786+178_8786+182delinsTACAC (ATM) NP_001338763.1:n.8786+178_8786+182delinsTACAC
NM_000051.4:c.8786+178_8786+182delinsTACAC (ATM) MANE Select NP_000042.3:n.8786+178_8786+182delinsTACAC
NR_147053.3:n.2299+853_2299+857delinsGTGTA (C11orf65)