Canonical Allele Identifier: CA1998812308

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108334988A= , CM000673.2:g.108334988A=	GRCh38
NC_000011.9:g.108205715A= , CM000673.1:g.108205715A=	GRCh37
NC_000011.8:g.107710925A=	NCBI36
NG_009830.1:g.117157A= , LRG_135:g.117157A=
NG_054724.1:g.139845T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.8030A= (ATM) MANE Select	NP_000042.3:p.Tyr2677=
ENST00000675843.1:c.8030A= (ATM) MANE Select	ENSP00000501606.1:p.Tyr2677=
NM_000051.3:c.8030A= , LRG_135t1:c.8030A= (ATM)	NP_000042.3:p.Tyr2677=
NM_001330368.1:c.641-25917T= (C11orf65)	NP_001317297.1:n.641-25917T=
NM_001330368.2:c.641-25917T= (C11orf65)	NP_001317297.1:n.641-25917T=
NM_001351110.1:c.*38+232T= (C11orf65)	NP_001338039.1:n.*38+232T=
NM_001351110.2:c.*38+232T= (C11orf65)	NP_001338039.1:n.*38+232T=
NM_001351834.1:c.8030A= (ATM)	NP_001338763.1:p.Tyr2677=
NM_001351834.2:c.8030A= (ATM)	NP_001338763.1:p.Tyr2677=
NR_147053.2:n.2374+232T= (C11orf65)
NR_147053.3:n.2372+232T= (C11orf65)
ENST00000278616.8:c.8030A= (ATM)	ENSP00000278616.4:p.Tyr2677=
ENST00000278616.9:c.8030A= (ATM)	ENSP00000278616.4:p.Tyr2677=
ENST00000452508.6:c.8030A= (ATM)	ENSP00000388058.2:p.Tyr2677=
ENST00000452508.7:c.8030A= (ATM)	ENSP00000388058.2:p.Tyr2677=
ENST00000524755.5:c.299+232T= (C11orf65)
ENST00000524792.5:n.4245A= (ATM)
ENST00000525056.1:n.227A= (ATM)
ENST00000525056.2:n.2449A= (ATM)
ENST00000525729.5:c.641-25917T= (C11orf65)	ENSP00000433395.1:n.641-25917T=
ENST00000527531.5:c.*1269+232T= (C11orf65)	ENSP00000431706.1:n.*1269+232T=
ENST00000527805.6:c.*3094A= (ATM)	ENSP00000435747.2:n.*3094A=
ENST00000533979.5:n.242A= (ATM)
ENST00000615746.4:c.*1269+232T= (C11orf65)	ENSP00000483537.1:n.*1269+232T=
ENST00000638786.2:n.728A= (ATM)
ENST00000675595.1:c.*3165A= (ATM)	ENSP00000502563.1:n.*3165A=
ENST00000682286.1:n.2787A= (ATM)
ENST00000682302.1:n.2448A= (ATM)
ENST00000683174.1:n.9514A= (ATM)
ENST00000683524.1:n.3254A= (ATM)
ENST00000684152.1:n.3446A= (ATM)
ENST00000684180.1:n.504A= (ATM)
ENST00000684447.1:n.4523A= (ATM)
ENST00000713593.1:c.*7501A= (ATM)	ENSP00000518889.1:n.*7501A=
XM_005271414.3:c.*38+232T= (C11orf65)	XP_005271471.1:n.*38+232T=
XM_005271414.4:c.*38+232T= (C11orf65)	XP_005271471.1:n.*38+232T=
XM_005271415.3:c.804+232T= (C11orf65)	XP_005271472.1:n.804+232T=
XM_005271415.4:c.804+232T= (C11orf65)	XP_005271472.1:n.804+232T=
XM_005271561.3:c.8030A= (ATM)	XP_005271618.2:p.Tyr2677=
XM_005271562.3:c.8030A= (ATM)	XP_005271619.2:p.Tyr2677=
XM_005271562.5:c.8030A= (ATM)	XP_005271619.2:p.Tyr2677=
XM_006718843.2:c.8030A= (ATM)	XP_006718906.1:p.Tyr2677=
XM_006718843.4:c.8030A= (ATM)	XP_006718906.1:p.Tyr2677=
XM_006718845.1:c.3986A= (ATM)	XP_006718908.1:p.Tyr1329=
XM_006718845.2:c.3986A= (ATM)	XP_006718908.1:p.Tyr1329=
XM_011542840.1:c.8030A= (ATM)	XP_011541142.1:p.Tyr2677=
XM_011542840.3:c.8030A= (ATM)	XP_011541142.1:p.Tyr2677=
XM_011542841.1:c.8030A= (ATM)	XP_011541143.1:p.Tyr2677=
XM_011542842.1:c.7865A= (ATM)	XP_011541144.1:p.Tyr2622=
XM_011542842.3:c.7865A= (ATM)	XP_011541144.1:p.Tyr2622=
XM_011542843.1:c.8030A= (ATM)	XP_011541145.1:p.Tyr2677=
XM_011542843.2:c.8030A= (ATM)	XP_011541145.1:p.Tyr2677=
XM_011542844.1:c.6986A= (ATM)	XP_011541146.1:p.Tyr2329=
XM_011542844.3:c.6986A= (ATM)	XP_011541146.1:p.Tyr2329=
XM_011542845.1:c.6722A= (ATM)	XP_011541147.1:p.Tyr2241=
XM_011542845.2:c.6722A= (ATM)	XP_011541147.1:p.Tyr2241=
XM_011542847.1:c.3101A= (ATM)	XP_011541149.1:p.Tyr1034=
XM_017017789.2:c.8030A= (ATM)	XP_016873278.1:p.Tyr2677=
XM_017017790.2:c.8030A= (ATM)	XP_016873279.1:p.Tyr2677=