Canonical Allele Identifier: CA2502307285

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354081_108354082insTACACACA , CM000673.2:g.108354081_108354082insTACACACA	GRCh38
NC_000011.9:g.108224808_108224809insTACACACA , CM000673.1:g.108224808_108224809insTACACACA	GRCh37
NC_000011.8:g.107730018_107730019insTACACACA	NCBI36
NG_009830.1:g.136250_136251insTACACACA , LRG_135:g.136250_136251insTACACACA
NG_054724.1:g.120758_120759insATGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+201_8786+202insTACACACA (ATM)	ENSP00000388058.2:n.8786+201_8786+202insTACACACA
ENST00000713593.1:c.*8257+201_*8257+202insTACACACA (ATM)	ENSP00000518889.1:n.*8257+201_*8257+202insTACACACA
ENST00000278616.9:c.8786+201_8786+202insTACACACA (ATM)	ENSP00000278616.4:n.8786+201_8786+202insTACACACA
ENST00000638786.2:n.1484+201_1484+202insTACACACA (ATM)
ENST00000682286.1:n.3543+201_3543+202insTACACACA (ATM)
ENST00000682302.1:n.3204+201_3204+202insTACACACA (ATM)
ENST00000683174.1:n.10270+201_10270+202insTACACACA (ATM)
ENST00000683524.1:n.4010+201_4010+202insTACACACA (ATM)
ENST00000684152.1:n.4202+201_4202+202insTACACACA (ATM)
ENST00000684180.1:n.1260+201_1260+202insTACACACA (ATM)
ENST00000684447.1:n.5279+201_5279+202insTACACACA (ATM)
ENST00000527805.6:c.*3850+201_*3850+202insTACACACA (ATM)	ENSP00000435747.2:n.*3850+201_*3850+202insTACACACA
ENST00000675595.1:c.*3921+201_*3921+202insTACACACA (ATM)	ENSP00000502563.1:n.*3921+201_*3921+202insTACACACA
ENST00000675843.1:c.8786+201_8786+202insTACACACA (ATM) MANE Select	ENSP00000501606.1:n.8786+201_8786+202insTACACACA
ENST00000278616.8:c.8786+201_8786+202insTACACACA (ATM)	ENSP00000278616.4:n.8786+201_8786+202insTACACACA
ENST00000452508.6:c.8786+201_8786+202insTACACACA (ATM)	ENSP00000388058.2:n.8786+201_8786+202insTACACACA
ENST00000524755.5:c.227-18783_227-18782insATGTGTGT (C11orf65)
ENST00000524792.5:n.5001+201_5001+202insTACACACA (ATM)
ENST00000525178.5:n.274+201_274+202insTACACACA (ATM)
ENST00000525729.5:c.640+31845_640+31846insATGTGTGT (C11orf65)	ENSP00000433395.1:n.640+31845_640+31846insATGTGTGT
ENST00000526725.1:n.272-13711_272-13710insATGTGTGT (C11orf65)
ENST00000527181.1:n.125+201_125+202insTACACACA (ATM)
ENST00000527531.5:c.*1196+840_*1196+841insATGTGTGT (C11orf65)	ENSP00000431706.1:n.*1196+840_*1196+841insATGTGTGT
ENST00000615746.4:c.*1196+840_*1196+841insATGTGTGT (C11orf65)	ENSP00000483537.1:n.*1196+840_*1196+841insATGTGTGT
NM_000051.3:c.8786+201_8786+202insTACACACA , LRG_135t1:c.8786+201_8786+202insTACACACA (ATM)	NP_000042.3:n.8786+201_8786+202insTACACACA
XM_005271414.3:c.788-18783_788-18782insATGTGTGT (C11orf65)	XP_005271471.1:n.788-18783_788-18782insATGTGTGT
XM_005271415.3:c.732-18783_732-18782insATGTGTGT (C11orf65)	XP_005271472.1:n.732-18783_732-18782insATGTGTGT
XM_005271561.3:c.8786+201_8786+202insTACACACA (ATM)	XP_005271618.2:n.8786+201_8786+202insTACACACA
XM_005271562.3:c.8786+201_8786+202insTACACACA (ATM)	XP_005271619.2:n.8786+201_8786+202insTACACACA
XM_006718843.2:c.8786+201_8786+202insTACACACA (ATM)	XP_006718906.1:n.8786+201_8786+202insTACACACA
XM_006718845.1:c.4742+201_4742+202insTACACACA (ATM)	XP_006718908.1:n.4742+201_4742+202insTACACACA
XM_011542640.1:c.788-13711_788-13710insATGTGTGT (C11orf65)	XP_011540942.1:n.788-13711_788-13710insATGTGTGT
XM_011542642.1:c.732-5002_732-5001insATGTGTGT (C11orf65)	XP_011540944.1:n.732-5002_732-5001insATGTGTGT
XM_011542643.1:c.732-13711_732-13710insATGTGTGT (C11orf65)	XP_011540945.1:n.732-13711_732-13710insATGTGTGT
XM_011542840.1:c.8786+201_8786+202insTACACACA (ATM)	XP_011541142.1:n.8786+201_8786+202insTACACACA
XM_011542841.1:c.8786+201_8786+202insTACACACA (ATM)	XP_011541143.1:n.8786+201_8786+202insTACACACA
XM_011542842.1:c.8621+201_8621+202insTACACACA (ATM)	XP_011541144.1:n.8621+201_8621+202insTACACACA
XM_011542844.1:c.7742+201_7742+202insTACACACA (ATM)	XP_011541146.1:n.7742+201_7742+202insTACACACA
XM_011542845.1:c.7478+201_7478+202insTACACACA (ATM)	XP_011541147.1:n.7478+201_7478+202insTACACACA
XM_011542847.1:c.3857+201_3857+202insTACACACA (ATM)	XP_011541149.1:n.3857+201_3857+202insTACACACA
NM_001330368.1:c.640+31845_640+31846insATGTGTGT (C11orf65)	NP_001317297.1:n.640+31845_640+31846insATGTGTGT
NM_001351110.1:c.695-18783_695-18782insATGTGTGT (C11orf65)	NP_001338039.1:n.695-18783_695-18782insATGTGTGT
NM_001351834.1:c.8786+201_8786+202insTACACACA (ATM)	NP_001338763.1:n.8786+201_8786+202insTACACACA
NR_147053.2:n.2301+840_2301+841insATGTGTGT (C11orf65)
XM_005271414.4:c.788-18783_788-18782insATGTGTGT (C11orf65)	XP_005271471.1:n.788-18783_788-18782insATGTGTGT
XM_005271415.4:c.732-18783_732-18782insATGTGTGT (C11orf65)	XP_005271472.1:n.732-18783_732-18782insATGTGTGT
XM_005271562.5:c.8786+201_8786+202insTACACACA (ATM)	XP_005271619.2:n.8786+201_8786+202insTACACACA
XM_006718843.4:c.8786+201_8786+202insTACACACA (ATM)	XP_006718906.1:n.8786+201_8786+202insTACACACA
XM_006718845.2:c.4742+201_4742+202insTACACACA (ATM)	XP_006718908.1:n.4742+201_4742+202insTACACACA
XM_011542640.2:c.788-13711_788-13710insATGTGTGT (C11orf65)	XP_011540942.1:n.788-13711_788-13710insATGTGTGT
XM_011542643.2:c.732-13711_732-13710insATGTGTGT (C11orf65)	XP_011540945.1:n.732-13711_732-13710insATGTGTGT
XM_011542840.3:c.8786+201_8786+202insTACACACA (ATM)	XP_011541142.1:n.8786+201_8786+202insTACACACA
XM_011542842.3:c.8621+201_8621+202insTACACACA (ATM)	XP_011541144.1:n.8621+201_8621+202insTACACACA
XM_011542844.3:c.7742+201_7742+202insTACACACA (ATM)	XP_011541146.1:n.7742+201_7742+202insTACACACA
XM_011542845.2:c.7478+201_7478+202insTACACACA (ATM)	XP_011541147.1:n.7478+201_7478+202insTACACACA
XM_017017247.1:c.904-13711_904-13710insATGTGTGT (C11orf65)	XP_016872736.1:n.904-13711_904-13710insATGTGTGT
XM_017017789.2:c.8786+201_8786+202insTACACACA (ATM)	XP_016873278.1:n.8786+201_8786+202insTACACACA
XM_017017790.2:c.8786+201_8786+202insTACACACA (ATM)	XP_016873279.1:n.8786+201_8786+202insTACACACA
NM_001330368.2:c.640+31845_640+31846insATGTGTGT (C11orf65)	NP_001317297.1:n.640+31845_640+31846insATGTGTGT
NM_001351110.2:c.695-18783_695-18782insATGTGTGT (C11orf65)	NP_001338039.1:n.695-18783_695-18782insATGTGTGT
NM_001351834.2:c.8786+201_8786+202insTACACACA (ATM)	NP_001338763.1:n.8786+201_8786+202insTACACACA
NM_000051.4:c.8786+201_8786+202insTACACACA (ATM) MANE Select	NP_000042.3:n.8786+201_8786+202insTACACACA
NR_147053.3:n.2299+840_2299+841insATGTGTGT (C11orf65)