Canonical Allele Identifier: CA1998820736
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354003_108354017delinsCCCAGGAGTTTGAGT , CM000673.2:g.108354003_108354017delinsCCCAGGAGTTTGAGT GRCh38
NC_000011.9:g.108224730_108224744delinsCCCAGGAGTTTGAGT , CM000673.1:g.108224730_108224744delinsCCCAGGAGTTTGAGT GRCh37
NC_000011.8:g.107729940_107729954delinsCCCAGGAGTTTGAGT NCBI36
NG_009830.1:g.136172_136186delinsCCCAGGAGTTTGAGT , LRG_135:g.136172_136186delinsCCCAGGAGTTTGAGT
NG_054724.1:g.120816_120830delinsACTCAAACTCCTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000388058.2:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
ENST00000713593.1:c.*8257+123_*8257+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000518889.1:n.*8257+123_*8257+137delinsCCCAGGAGTTTGAGT
ENST00000278616.9:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000278616.4:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
ENST00000638786.2:n.1484+123_1484+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000682286.1:n.3543+123_3543+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000682302.1:n.3204+123_3204+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000683174.1:n.10270+123_10270+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000683524.1:n.4010+123_4010+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000684152.1:n.4202+123_4202+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000684180.1:n.1260+123_1260+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000684447.1:n.5279+123_5279+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000527805.6:c.*3850+123_*3850+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000435747.2:n.*3850+123_*3850+137delinsCCCAGGAGTTTGAGT
ENST00000675595.1:c.*3921+123_*3921+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000502563.1:n.*3921+123_*3921+137delinsCCCAGGAGTTTGAGT
ENST00000675843.1:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) MANE Select ENSP00000501606.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
ENST00000278616.8:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000278616.4:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
ENST00000452508.6:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) ENSP00000388058.2:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
ENST00000524755.5:c.227-18725_227-18711delinsACTCAAACTCCTGGG (C11orf65)
ENST00000524792.5:n.5001+123_5001+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000525178.5:n.274+123_274+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000525729.5:c.640+31903_640+31917delinsACTCAAACTCCTGGG (C11orf65) ENSP00000433395.1:n.640+31903_640+31917delinsACTCAAACTCCTGGG
ENST00000526725.1:n.272-13653_272-13639delinsACTCAAACTCCTGGG (C11orf65)
ENST00000527181.1:n.125+123_125+137delinsCCCAGGAGTTTGAGT (ATM)
ENST00000527531.5:c.*1196+898_*1196+912delinsACTCAAACTCCTGGG (C11orf65) ENSP00000431706.1:n.*1196+898_*1196+912delinsACTCAAACTCCTGGG
ENST00000615746.4:c.*1196+898_*1196+912delinsACTCAAACTCCTGGG (C11orf65) ENSP00000483537.1:n.*1196+898_*1196+912delinsACTCAAACTCCTGGG
NM_000051.3:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT , LRG_135t1:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) NP_000042.3:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_005271414.3:c.788-18725_788-18711delinsACTCAAACTCCTGGG (C11orf65) XP_005271471.1:n.788-18725_788-18711delinsACTCAAACTCCTGGG
XM_005271415.3:c.732-18725_732-18711delinsACTCAAACTCCTGGG (C11orf65) XP_005271472.1:n.732-18725_732-18711delinsACTCAAACTCCTGGG
XM_005271561.3:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_005271618.2:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_005271562.3:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_005271619.2:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_006718843.2:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_006718906.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_006718845.1:c.4742+123_4742+137delinsCCCAGGAGTTTGAGT (ATM) XP_006718908.1:n.4742+123_4742+137delinsCCCAGGAGTTTGAGT
XM_011542640.1:c.788-13653_788-13639delinsACTCAAACTCCTGGG (C11orf65) XP_011540942.1:n.788-13653_788-13639delinsACTCAAACTCCTGGG
XM_011542642.1:c.732-4944_732-4930delinsACTCAAACTCCTGGG (C11orf65) XP_011540944.1:n.732-4944_732-4930delinsACTCAAACTCCTGGG
XM_011542643.1:c.732-13653_732-13639delinsACTCAAACTCCTGGG (C11orf65) XP_011540945.1:n.732-13653_732-13639delinsACTCAAACTCCTGGG
XM_011542840.1:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541142.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_011542841.1:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541143.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_011542842.1:c.8621+123_8621+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541144.1:n.8621+123_8621+137delinsCCCAGGAGTTTGAGT
XM_011542844.1:c.7742+123_7742+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541146.1:n.7742+123_7742+137delinsCCCAGGAGTTTGAGT
XM_011542845.1:c.7478+123_7478+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541147.1:n.7478+123_7478+137delinsCCCAGGAGTTTGAGT
XM_011542847.1:c.3857+123_3857+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541149.1:n.3857+123_3857+137delinsCCCAGGAGTTTGAGT
NM_001330368.1:c.640+31903_640+31917delinsACTCAAACTCCTGGG (C11orf65) NP_001317297.1:n.640+31903_640+31917delinsACTCAAACTCCTGGG
NM_001351110.1:c.695-18725_695-18711delinsACTCAAACTCCTGGG (C11orf65) NP_001338039.1:n.695-18725_695-18711delinsACTCAAACTCCTGGG
NM_001351834.1:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) NP_001338763.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
NR_147053.2:n.2301+898_2301+912delinsACTCAAACTCCTGGG (C11orf65)
XM_005271414.4:c.788-18725_788-18711delinsACTCAAACTCCTGGG (C11orf65) XP_005271471.1:n.788-18725_788-18711delinsACTCAAACTCCTGGG
XM_005271415.4:c.732-18725_732-18711delinsACTCAAACTCCTGGG (C11orf65) XP_005271472.1:n.732-18725_732-18711delinsACTCAAACTCCTGGG
XM_005271562.5:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_005271619.2:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_006718843.4:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_006718906.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_006718845.2:c.4742+123_4742+137delinsCCCAGGAGTTTGAGT (ATM) XP_006718908.1:n.4742+123_4742+137delinsCCCAGGAGTTTGAGT
XM_011542640.2:c.788-13653_788-13639delinsACTCAAACTCCTGGG (C11orf65) XP_011540942.1:n.788-13653_788-13639delinsACTCAAACTCCTGGG
XM_011542643.2:c.732-13653_732-13639delinsACTCAAACTCCTGGG (C11orf65) XP_011540945.1:n.732-13653_732-13639delinsACTCAAACTCCTGGG
XM_011542840.3:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541142.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_011542842.3:c.8621+123_8621+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541144.1:n.8621+123_8621+137delinsCCCAGGAGTTTGAGT
XM_011542844.3:c.7742+123_7742+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541146.1:n.7742+123_7742+137delinsCCCAGGAGTTTGAGT
XM_011542845.2:c.7478+123_7478+137delinsCCCAGGAGTTTGAGT (ATM) XP_011541147.1:n.7478+123_7478+137delinsCCCAGGAGTTTGAGT
XM_017017247.1:c.904-13653_904-13639delinsACTCAAACTCCTGGG (C11orf65) XP_016872736.1:n.904-13653_904-13639delinsACTCAAACTCCTGGG
XM_017017789.2:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_016873278.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
XM_017017790.2:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) XP_016873279.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
NM_001330368.2:c.640+31903_640+31917delinsACTCAAACTCCTGGG (C11orf65) NP_001317297.1:n.640+31903_640+31917delinsACTCAAACTCCTGGG
NM_001351110.2:c.695-18725_695-18711delinsACTCAAACTCCTGGG (C11orf65) NP_001338039.1:n.695-18725_695-18711delinsACTCAAACTCCTGGG
NM_001351834.2:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) NP_001338763.1:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
NM_000051.4:c.8786+123_8786+137delinsCCCAGGAGTTTGAGT (ATM) MANE Select NP_000042.3:n.8786+123_8786+137delinsCCCAGGAGTTTGAGT
NR_147053.3:n.2299+898_2299+912delinsACTCAAACTCCTGGG (C11orf65)
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