Canonical Allele Identifier: CA2793553773

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354055_108354057del , CM000673.2:g.108354055_108354057del	GRCh38
NC_000011.9:g.108224782_108224784del , CM000673.1:g.108224782_108224784del	GRCh37
NC_000011.8:g.107729992_107729994del	NCBI36
NG_009830.1:g.136224_136226del , LRG_135:g.136224_136226del
NG_054724.1:g.120780_120782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+175_8786+177del (ATM)	ENSP00000388058.2:n.8786+175_8786+177del
ENST00000713593.1:c.*8257+175_*8257+177del (ATM)	ENSP00000518889.1:n.*8257+175_*8257+177del
ENST00000278616.9:c.8786+175_8786+177del (ATM)	ENSP00000278616.4:n.8786+175_8786+177del
ENST00000638786.2:n.1484+175_1484+177del (ATM)
ENST00000682286.1:n.3543+175_3543+177del (ATM)
ENST00000682302.1:n.3204+175_3204+177del (ATM)
ENST00000683174.1:n.10270+175_10270+177del (ATM)
ENST00000683524.1:n.4010+175_4010+177del (ATM)
ENST00000684152.1:n.4202+175_4202+177del (ATM)
ENST00000684180.1:n.1260+175_1260+177del (ATM)
ENST00000684447.1:n.5279+175_5279+177del (ATM)
ENST00000527805.6:c.*3850+175_*3850+177del (ATM)	ENSP00000435747.2:n.*3850+175_*3850+177del
ENST00000675595.1:c.*3921+175_*3921+177del (ATM)	ENSP00000502563.1:n.*3921+175_*3921+177del
ENST00000675843.1:c.8786+175_8786+177del (ATM) MANE Select	ENSP00000501606.1:n.8786+175_8786+177del
ENST00000278616.8:c.8786+175_8786+177del (ATM)	ENSP00000278616.4:n.8786+175_8786+177del
ENST00000452508.6:c.8786+175_8786+177del (ATM)	ENSP00000388058.2:n.8786+175_8786+177del
ENST00000524755.5:c.227-18761_227-18759del (C11orf65)
ENST00000524792.5:n.5001+175_5001+177del (ATM)
ENST00000525178.5:n.274+175_274+177del (ATM)
ENST00000525729.5:c.640+31867_640+31869del (C11orf65)	ENSP00000433395.1:n.640+31867_640+31869del
ENST00000526725.1:n.272-13689_272-13687del (C11orf65)
ENST00000527181.1:n.125+175_125+177del (ATM)
ENST00000527531.5:c.*1196+862_*1196+864del (C11orf65)	ENSP00000431706.1:n.*1196+862_*1196+864del
ENST00000615746.4:c.*1196+862_*1196+864del (C11orf65)	ENSP00000483537.1:n.*1196+862_*1196+864del
NM_000051.3:c.8786+175_8786+177del , LRG_135t1:c.8786+175_8786+177del (ATM)	NP_000042.3:n.8786+175_8786+177del
XM_005271414.3:c.788-18761_788-18759del (C11orf65)	XP_005271471.1:n.788-18761_788-18759del
XM_005271415.3:c.732-18761_732-18759del (C11orf65)	XP_005271472.1:n.732-18761_732-18759del
XM_005271561.3:c.8786+175_8786+177del (ATM)	XP_005271618.2:n.8786+175_8786+177del
XM_005271562.3:c.8786+175_8786+177del (ATM)	XP_005271619.2:n.8786+175_8786+177del
XM_006718843.2:c.8786+175_8786+177del (ATM)	XP_006718906.1:n.8786+175_8786+177del
XM_006718845.1:c.4742+175_4742+177del (ATM)	XP_006718908.1:n.4742+175_4742+177del
XM_011542640.1:c.788-13689_788-13687del (C11orf65)	XP_011540942.1:n.788-13689_788-13687del
XM_011542642.1:c.732-4980_732-4978del (C11orf65)	XP_011540944.1:n.732-4980_732-4978del
XM_011542643.1:c.732-13689_732-13687del (C11orf65)	XP_011540945.1:n.732-13689_732-13687del
XM_011542840.1:c.8786+175_8786+177del (ATM)	XP_011541142.1:n.8786+175_8786+177del
XM_011542841.1:c.8786+175_8786+177del (ATM)	XP_011541143.1:n.8786+175_8786+177del
XM_011542842.1:c.8621+175_8621+177del (ATM)	XP_011541144.1:n.8621+175_8621+177del
XM_011542844.1:c.7742+175_7742+177del (ATM)	XP_011541146.1:n.7742+175_7742+177del
XM_011542845.1:c.7478+175_7478+177del (ATM)	XP_011541147.1:n.7478+175_7478+177del
XM_011542847.1:c.3857+175_3857+177del (ATM)	XP_011541149.1:n.3857+175_3857+177del
NM_001330368.1:c.640+31867_640+31869del (C11orf65)	NP_001317297.1:n.640+31867_640+31869del
NM_001351110.1:c.695-18761_695-18759del (C11orf65)	NP_001338039.1:n.695-18761_695-18759del
NM_001351834.1:c.8786+175_8786+177del (ATM)	NP_001338763.1:n.8786+175_8786+177del
NR_147053.2:n.2301+862_2301+864del (C11orf65)
XM_005271414.4:c.788-18761_788-18759del (C11orf65)	XP_005271471.1:n.788-18761_788-18759del
XM_005271415.4:c.732-18761_732-18759del (C11orf65)	XP_005271472.1:n.732-18761_732-18759del
XM_005271562.5:c.8786+175_8786+177del (ATM)	XP_005271619.2:n.8786+175_8786+177del
XM_006718843.4:c.8786+175_8786+177del (ATM)	XP_006718906.1:n.8786+175_8786+177del
XM_006718845.2:c.4742+175_4742+177del (ATM)	XP_006718908.1:n.4742+175_4742+177del
XM_011542640.2:c.788-13689_788-13687del (C11orf65)	XP_011540942.1:n.788-13689_788-13687del
XM_011542643.2:c.732-13689_732-13687del (C11orf65)	XP_011540945.1:n.732-13689_732-13687del
XM_011542840.3:c.8786+175_8786+177del (ATM)	XP_011541142.1:n.8786+175_8786+177del
XM_011542842.3:c.8621+175_8621+177del (ATM)	XP_011541144.1:n.8621+175_8621+177del
XM_011542844.3:c.7742+175_7742+177del (ATM)	XP_011541146.1:n.7742+175_7742+177del
XM_011542845.2:c.7478+175_7478+177del (ATM)	XP_011541147.1:n.7478+175_7478+177del
XM_017017247.1:c.904-13689_904-13687del (C11orf65)	XP_016872736.1:n.904-13689_904-13687del
XM_017017789.2:c.8786+175_8786+177del (ATM)	XP_016873278.1:n.8786+175_8786+177del
XM_017017790.2:c.8786+175_8786+177del (ATM)	XP_016873279.1:n.8786+175_8786+177del
NM_001330368.2:c.640+31867_640+31869del (C11orf65)	NP_001317297.1:n.640+31867_640+31869del
NM_001351110.2:c.695-18761_695-18759del (C11orf65)	NP_001338039.1:n.695-18761_695-18759del
NM_001351834.2:c.8786+175_8786+177del (ATM)	NP_001338763.1:n.8786+175_8786+177del
NM_000051.4:c.8786+175_8786+177del (ATM) MANE Select	NP_000042.3:n.8786+175_8786+177del
NR_147053.3:n.2299+862_2299+864del (C11orf65)