Canonical Allele Identifier: CA2501874065

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354069_108354070insT , CM000673.2:g.108354069_108354070insT	GRCh38
NC_000011.9:g.108224796_108224797insT , CM000673.1:g.108224796_108224797insT	GRCh37
NC_000011.8:g.107730006_107730007insT	NCBI36
NG_009830.1:g.136238_136239insT , LRG_135:g.136238_136239insT
NG_054724.1:g.120763_120764insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+189_8786+190insT (ATM)	ENSP00000388058.2:n.8786+189_8786+190insT
ENST00000713593.1:c.*8257+189_*8257+190insT (ATM)	ENSP00000518889.1:n.*8257+189_*8257+190insT
ENST00000278616.9:c.8786+189_8786+190insT (ATM)	ENSP00000278616.4:n.8786+189_8786+190insT
ENST00000638786.2:n.1484+189_1484+190insT (ATM)
ENST00000682286.1:n.3543+189_3543+190insT (ATM)
ENST00000682302.1:n.3204+189_3204+190insT (ATM)
ENST00000683174.1:n.10270+189_10270+190insT (ATM)
ENST00000683524.1:n.4010+189_4010+190insT (ATM)
ENST00000684152.1:n.4202+189_4202+190insT (ATM)
ENST00000684180.1:n.1260+189_1260+190insT (ATM)
ENST00000684447.1:n.5279+189_5279+190insT (ATM)
ENST00000527805.6:c.*3850+189_*3850+190insT (ATM)	ENSP00000435747.2:n.*3850+189_*3850+190insT
ENST00000675595.1:c.*3921+189_*3921+190insT (ATM)	ENSP00000502563.1:n.*3921+189_*3921+190insT
ENST00000675843.1:c.8786+189_8786+190insT (ATM) MANE Select	ENSP00000501606.1:n.8786+189_8786+190insT
ENST00000278616.8:c.8786+189_8786+190insT (ATM)	ENSP00000278616.4:n.8786+189_8786+190insT
ENST00000452508.6:c.8786+189_8786+190insT (ATM)	ENSP00000388058.2:n.8786+189_8786+190insT
ENST00000524755.5:c.227-18778_227-18777insA (C11orf65)
ENST00000524792.5:n.5001+189_5001+190insT (ATM)
ENST00000525178.5:n.274+189_274+190insT (ATM)
ENST00000525729.5:c.640+31850_640+31851insA (C11orf65)	ENSP00000433395.1:n.640+31850_640+31851insA
ENST00000526725.1:n.272-13706_272-13705insA (C11orf65)
ENST00000527181.1:n.125+189_125+190insT (ATM)
ENST00000527531.5:c.*1196+845_*1196+846insA (C11orf65)	ENSP00000431706.1:n.*1196+845_*1196+846insA
ENST00000615746.4:c.*1196+845_*1196+846insA (C11orf65)	ENSP00000483537.1:n.*1196+845_*1196+846insA
NM_000051.3:c.8786+189_8786+190insT , LRG_135t1:c.8786+189_8786+190insT (ATM)	NP_000042.3:n.8786+189_8786+190insT
XM_005271414.3:c.788-18778_788-18777insA (C11orf65)	XP_005271471.1:n.788-18778_788-18777insA
XM_005271415.3:c.732-18778_732-18777insA (C11orf65)	XP_005271472.1:n.732-18778_732-18777insA
XM_005271561.3:c.8786+189_8786+190insT (ATM)	XP_005271618.2:n.8786+189_8786+190insT
XM_005271562.3:c.8786+189_8786+190insT (ATM)	XP_005271619.2:n.8786+189_8786+190insT
XM_006718843.2:c.8786+189_8786+190insT (ATM)	XP_006718906.1:n.8786+189_8786+190insT
XM_006718845.1:c.4742+189_4742+190insT (ATM)	XP_006718908.1:n.4742+189_4742+190insT
XM_011542640.1:c.788-13706_788-13705insA (C11orf65)	XP_011540942.1:n.788-13706_788-13705insA
XM_011542642.1:c.732-4997_732-4996insA (C11orf65)	XP_011540944.1:n.732-4997_732-4996insA
XM_011542643.1:c.732-13706_732-13705insA (C11orf65)	XP_011540945.1:n.732-13706_732-13705insA
XM_011542840.1:c.8786+189_8786+190insT (ATM)	XP_011541142.1:n.8786+189_8786+190insT
XM_011542841.1:c.8786+189_8786+190insT (ATM)	XP_011541143.1:n.8786+189_8786+190insT
XM_011542842.1:c.8621+189_8621+190insT (ATM)	XP_011541144.1:n.8621+189_8621+190insT
XM_011542844.1:c.7742+189_7742+190insT (ATM)	XP_011541146.1:n.7742+189_7742+190insT
XM_011542845.1:c.7478+189_7478+190insT (ATM)	XP_011541147.1:n.7478+189_7478+190insT
XM_011542847.1:c.3857+189_3857+190insT (ATM)	XP_011541149.1:n.3857+189_3857+190insT
NM_001330368.1:c.640+31850_640+31851insA (C11orf65)	NP_001317297.1:n.640+31850_640+31851insA
NM_001351110.1:c.695-18778_695-18777insA (C11orf65)	NP_001338039.1:n.695-18778_695-18777insA
NM_001351834.1:c.8786+189_8786+190insT (ATM)	NP_001338763.1:n.8786+189_8786+190insT
NR_147053.2:n.2301+845_2301+846insA (C11orf65)
XM_005271414.4:c.788-18778_788-18777insA (C11orf65)	XP_005271471.1:n.788-18778_788-18777insA
XM_005271415.4:c.732-18778_732-18777insA (C11orf65)	XP_005271472.1:n.732-18778_732-18777insA
XM_005271562.5:c.8786+189_8786+190insT (ATM)	XP_005271619.2:n.8786+189_8786+190insT
XM_006718843.4:c.8786+189_8786+190insT (ATM)	XP_006718906.1:n.8786+189_8786+190insT
XM_006718845.2:c.4742+189_4742+190insT (ATM)	XP_006718908.1:n.4742+189_4742+190insT
XM_011542640.2:c.788-13706_788-13705insA (C11orf65)	XP_011540942.1:n.788-13706_788-13705insA
XM_011542643.2:c.732-13706_732-13705insA (C11orf65)	XP_011540945.1:n.732-13706_732-13705insA
XM_011542840.3:c.8786+189_8786+190insT (ATM)	XP_011541142.1:n.8786+189_8786+190insT
XM_011542842.3:c.8621+189_8621+190insT (ATM)	XP_011541144.1:n.8621+189_8621+190insT
XM_011542844.3:c.7742+189_7742+190insT (ATM)	XP_011541146.1:n.7742+189_7742+190insT
XM_011542845.2:c.7478+189_7478+190insT (ATM)	XP_011541147.1:n.7478+189_7478+190insT
XM_017017247.1:c.904-13706_904-13705insA (C11orf65)	XP_016872736.1:n.904-13706_904-13705insA
XM_017017789.2:c.8786+189_8786+190insT (ATM)	XP_016873278.1:n.8786+189_8786+190insT
XM_017017790.2:c.8786+189_8786+190insT (ATM)	XP_016873279.1:n.8786+189_8786+190insT
NM_001330368.2:c.640+31850_640+31851insA (C11orf65)	NP_001317297.1:n.640+31850_640+31851insA
NM_001351110.2:c.695-18778_695-18777insA (C11orf65)	NP_001338039.1:n.695-18778_695-18777insA
NM_001351834.2:c.8786+189_8786+190insT (ATM)	NP_001338763.1:n.8786+189_8786+190insT
NM_000051.4:c.8786+189_8786+190insT (ATM) MANE Select	NP_000042.3:n.8786+189_8786+190insT
NR_147053.3:n.2299+845_2299+846insA (C11orf65)