Canonical Allele Identifier: CA1998820820

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354106C= , CM000673.2:g.108354106C=	GRCh38
NC_000011.9:g.108224833C= , CM000673.1:g.108224833C=	GRCh37
NC_000011.8:g.107730043C=	NCBI36
NG_009830.1:g.136275C= , LRG_135:g.136275C=
NG_054724.1:g.120727G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+226C= (ATM)	ENSP00000388058.2:n.8786+226C=
ENST00000713593.1:c.*8257+226C= (ATM)	ENSP00000518889.1:n.*8257+226C=
ENST00000278616.9:c.8786+226C= (ATM)	ENSP00000278616.4:n.8786+226C=
ENST00000638786.2:n.1484+226C= (ATM)
ENST00000682286.1:n.3543+226C= (ATM)
ENST00000682302.1:n.3204+226C= (ATM)
ENST00000683174.1:n.10270+226C= (ATM)
ENST00000683524.1:n.4010+226C= (ATM)
ENST00000684152.1:n.4202+226C= (ATM)
ENST00000684180.1:n.1260+226C= (ATM)
ENST00000684447.1:n.5279+226C= (ATM)
ENST00000527805.6:c.*3850+226C= (ATM)	ENSP00000435747.2:n.*3850+226C=
ENST00000675595.1:c.*3921+226C= (ATM)	ENSP00000502563.1:n.*3921+226C=
ENST00000675843.1:c.8786+226C= (ATM) MANE Select	ENSP00000501606.1:n.8786+226C=
ENST00000278616.8:c.8786+226C= (ATM)	ENSP00000278616.4:n.8786+226C=
ENST00000452508.6:c.8786+226C= (ATM)	ENSP00000388058.2:n.8786+226C=
ENST00000524755.5:c.227-18814G= (C11orf65)
ENST00000524792.5:n.5001+226C= (ATM)
ENST00000525178.5:n.274+226C= (ATM)
ENST00000525729.5:c.640+31814G= (C11orf65)	ENSP00000433395.1:n.640+31814G=
ENST00000526725.1:n.272-13742G= (C11orf65)
ENST00000527181.1:n.125+226C= (ATM)
ENST00000527531.5:c.*1196+809G= (C11orf65)	ENSP00000431706.1:n.*1196+809G=
ENST00000615746.4:c.*1196+809G= (C11orf65)	ENSP00000483537.1:n.*1196+809G=
NM_000051.3:c.8786+226C= , LRG_135t1:c.8786+226C= (ATM)	NP_000042.3:n.8786+226C=
XM_005271414.3:c.788-18814G= (C11orf65)	XP_005271471.1:n.788-18814G=
XM_005271415.3:c.732-18814G= (C11orf65)	XP_005271472.1:n.732-18814G=
XM_005271561.3:c.8786+226C= (ATM)	XP_005271618.2:n.8786+226C=
XM_005271562.3:c.8786+226C= (ATM)	XP_005271619.2:n.8786+226C=
XM_006718843.2:c.8786+226C= (ATM)	XP_006718906.1:n.8786+226C=
XM_006718845.1:c.4742+226C= (ATM)	XP_006718908.1:n.4742+226C=
XM_011542640.1:c.788-13742G= (C11orf65)	XP_011540942.1:n.788-13742G=
XM_011542642.1:c.732-5033G= (C11orf65)	XP_011540944.1:n.732-5033G=
XM_011542643.1:c.732-13742G= (C11orf65)	XP_011540945.1:n.732-13742G=
XM_011542840.1:c.8786+226C= (ATM)	XP_011541142.1:n.8786+226C=
XM_011542841.1:c.8786+226C= (ATM)	XP_011541143.1:n.8786+226C=
XM_011542842.1:c.8621+226C= (ATM)	XP_011541144.1:n.8621+226C=
XM_011542844.1:c.7742+226C= (ATM)	XP_011541146.1:n.7742+226C=
XM_011542845.1:c.7478+226C= (ATM)	XP_011541147.1:n.7478+226C=
XM_011542847.1:c.3857+226C= (ATM)	XP_011541149.1:n.3857+226C=
NM_001330368.1:c.640+31814G= (C11orf65)	NP_001317297.1:n.640+31814G=
NM_001351110.1:c.695-18814G= (C11orf65)	NP_001338039.1:n.695-18814G=
NM_001351834.1:c.8786+226C= (ATM)	NP_001338763.1:n.8786+226C=
NR_147053.2:n.2301+809G= (C11orf65)
XM_005271414.4:c.788-18814G= (C11orf65)	XP_005271471.1:n.788-18814G=
XM_005271415.4:c.732-18814G= (C11orf65)	XP_005271472.1:n.732-18814G=
XM_005271562.5:c.8786+226C= (ATM)	XP_005271619.2:n.8786+226C=
XM_006718843.4:c.8786+226C= (ATM)	XP_006718906.1:n.8786+226C=
XM_006718845.2:c.4742+226C= (ATM)	XP_006718908.1:n.4742+226C=
XM_011542640.2:c.788-13742G= (C11orf65)	XP_011540942.1:n.788-13742G=
XM_011542643.2:c.732-13742G= (C11orf65)	XP_011540945.1:n.732-13742G=
XM_011542840.3:c.8786+226C= (ATM)	XP_011541142.1:n.8786+226C=
XM_011542842.3:c.8621+226C= (ATM)	XP_011541144.1:n.8621+226C=
XM_011542844.3:c.7742+226C= (ATM)	XP_011541146.1:n.7742+226C=
XM_011542845.2:c.7478+226C= (ATM)	XP_011541147.1:n.7478+226C=
XM_017017247.1:c.904-13742G= (C11orf65)	XP_016872736.1:n.904-13742G=
XM_017017789.2:c.8786+226C= (ATM)	XP_016873278.1:n.8786+226C=
XM_017017790.2:c.8786+226C= (ATM)	XP_016873279.1:n.8786+226C=
NM_001330368.2:c.640+31814G= (C11orf65)	NP_001317297.1:n.640+31814G=
NM_001351110.2:c.695-18814G= (C11orf65)	NP_001338039.1:n.695-18814G=
NM_001351834.2:c.8786+226C= (ATM)	NP_001338763.1:n.8786+226C=
NM_000051.4:c.8786+226C= (ATM) MANE Select	NP_000042.3:n.8786+226C=
NR_147053.3:n.2299+809G= (C11orf65)