Canonical Allele Identifier: CA382521192

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108347353C>G , CM000673.2:g.108347353C>G	GRCh38
NC_000011.9:g.108218080C>G , CM000673.1:g.108218080C>G	GRCh37
NC_000011.8:g.107723290C>G	NCBI36
NG_009830.1:g.129522C>G , LRG_135:g.129522C>G
NG_054724.1:g.127480G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.8659C>G (ATM) MANE Select	NP_000042.3:p.His2887Asp
ENST00000675843.1:c.8659C>G (ATM) MANE Select	ENSP00000501606.1:p.His2887Asp
NM_000051.3:c.8659C>G , LRG_135t1:c.8659C>G (ATM)	NP_000042.3:p.His2887Asp
NM_001330368.1:c.641-38282G>C (C11orf65)	NP_001317297.1:n.641-38282G>C
NM_001330368.2:c.641-38282G>C (C11orf65)	NP_001317297.1:n.641-38282G>C
NM_001351110.1:c.695-12061G>C (C11orf65)	NP_001338039.1:n.695-12061G>C
NM_001351110.2:c.695-12061G>C (C11orf65)	NP_001338039.1:n.695-12061G>C
NM_001351834.1:c.8659C>G (ATM)	NP_001338763.1:p.His2887Asp
NM_001351834.2:c.8659C>G (ATM)	NP_001338763.1:p.His2887Asp
NR_147053.2:n.2301+7562G>C (C11orf65)
NR_147053.3:n.2299+7562G>C (C11orf65)
ENST00000278616.8:c.8659C>G (ATM)	ENSP00000278616.4:p.His2887Asp
ENST00000278616.9:c.8659C>G (ATM)	ENSP00000278616.4:p.His2887Asp
ENST00000452508.6:c.8659C>G (ATM)	ENSP00000388058.2:p.His2887Asp
ENST00000452508.7:c.8659C>G (ATM)	ENSP00000388058.2:p.His2887Asp
ENST00000524755.5:c.227-12061G>C (C11orf65)
ENST00000524792.5:n.4874C>G (ATM)
ENST00000525178.5:n.147C>G (ATM)
ENST00000525729.5:c.641-38282G>C (C11orf65)	ENSP00000433395.1:n.641-38282G>C
ENST00000526725.1:n.272-6989G>C (C11orf65)
ENST00000527531.5:c.*1196+7562G>C (C11orf65)	ENSP00000431706.1:n.*1196+7562G>C
ENST00000527805.6:c.*3723C>G (ATM)	ENSP00000435747.2:n.*3723C>G
ENST00000615746.4:c.*1196+7562G>C (C11orf65)	ENSP00000483537.1:n.*1196+7562G>C
ENST00000638786.2:n.1357C>G (ATM)
ENST00000675595.1:c.*3794C>G (ATM)	ENSP00000502563.1:n.*3794C>G
ENST00000682286.1:n.3416C>G (ATM)
ENST00000682302.1:n.3077C>G (ATM)
ENST00000683174.1:n.10143C>G (ATM)
ENST00000683524.1:n.3883C>G (ATM)
ENST00000684152.1:n.4075C>G (ATM)
ENST00000684180.1:n.1133C>G (ATM)
ENST00000684447.1:n.5152C>G (ATM)
ENST00000713593.1:c.*8130C>G (ATM)	ENSP00000518889.1:n.*8130C>G
XM_005271414.3:c.788-12061G>C (C11orf65)	XP_005271471.1:n.788-12061G>C
XM_005271414.4:c.788-12061G>C (C11orf65)	XP_005271471.1:n.788-12061G>C
XM_005271415.3:c.732-12061G>C (C11orf65)	XP_005271472.1:n.732-12061G>C
XM_005271415.4:c.732-12061G>C (C11orf65)	XP_005271472.1:n.732-12061G>C
XM_005271561.3:c.8659C>G (ATM)	XP_005271618.2:p.His2887Asp
XM_005271562.3:c.8659C>G (ATM)	XP_005271619.2:p.His2887Asp
XM_005271562.5:c.8659C>G (ATM)	XP_005271619.2:p.His2887Asp
XM_006718843.2:c.8659C>G (ATM)	XP_006718906.1:p.His2887Asp
XM_006718843.4:c.8659C>G (ATM)	XP_006718906.1:p.His2887Asp
XM_006718845.1:c.4615C>G (ATM)	XP_006718908.1:p.His1539Asp
XM_006718845.2:c.4615C>G (ATM)	XP_006718908.1:p.His1539Asp
XM_011542640.1:c.788-6989G>C (C11orf65)	XP_011540942.1:n.788-6989G>C
XM_011542640.2:c.788-6989G>C (C11orf65)	XP_011540942.1:n.788-6989G>C
XM_011542643.1:c.732-6989G>C (C11orf65)	XP_011540945.1:n.732-6989G>C
XM_011542643.2:c.732-6989G>C (C11orf65)	XP_011540945.1:n.732-6989G>C
XM_011542840.1:c.8659C>G (ATM)	XP_011541142.1:p.His2887Asp
XM_011542840.3:c.8659C>G (ATM)	XP_011541142.1:p.His2887Asp
XM_011542841.1:c.8659C>G (ATM)	XP_011541143.1:p.His2887Asp
XM_011542842.1:c.8494C>G (ATM)	XP_011541144.1:p.His2832Asp
XM_011542842.3:c.8494C>G (ATM)	XP_011541144.1:p.His2832Asp
XM_011542843.1:c.8659C>G (ATM)	XP_011541145.1:p.His2887Asp
XM_011542843.2:c.8659C>G (ATM)	XP_011541145.1:p.His2887Asp
XM_011542844.1:c.7615C>G (ATM)	XP_011541146.1:p.His2539Asp
XM_011542844.3:c.7615C>G (ATM)	XP_011541146.1:p.His2539Asp
XM_011542845.1:c.7351C>G (ATM)	XP_011541147.1:p.His2451Asp
XM_011542845.2:c.7351C>G (ATM)	XP_011541147.1:p.His2451Asp
XM_011542847.1:c.3730C>G (ATM)	XP_011541149.1:p.His1244Asp
XM_017017247.1:c.904-6989G>C (C11orf65)	XP_016872736.1:n.904-6989G>C
XM_017017789.2:c.8659C>G (ATM)	XP_016873278.1:p.His2887Asp
XM_017017790.2:c.8659C>G (ATM)	XP_016873279.1:p.His2887Asp