Canonical Allele Identifier: CA1998809605

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327678T= , CM000673.2:g.108327678T=	GRCh38
NC_000011.9:g.108198405T= , CM000673.1:g.108198405T=	GRCh37
NC_000011.8:g.107703615T=	NCBI36
NG_009830.1:g.109847T= , LRG_135:g.109847T=
NG_054724.1:g.147155A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7009T= (ATM)	ENSP00000388058.2:p.Cys2337=
ENST00000713593.1:c.*6480T= (ATM)	ENSP00000518889.1:n.*6480T=
ENST00000278616.9:c.7009T= (ATM)	ENSP00000278616.4:p.Cys2337=
ENST00000525056.2:n.1428T= (ATM)
ENST00000682286.1:n.1766T= (ATM)
ENST00000682302.1:n.1427T= (ATM)
ENST00000683174.1:n.8493T= (ATM)
ENST00000683524.1:n.2233T= (ATM)
ENST00000684152.1:n.2723T= (ATM)
ENST00000684447.1:n.1472T= (ATM)
ENST00000527805.6:c.*2073T= (ATM)	ENSP00000435747.2:n.*2073T=
ENST00000675595.1:c.*2144T= (ATM)	ENSP00000502563.1:n.*2144T=
ENST00000675843.1:c.7009T= (ATM) MANE Select	ENSP00000501606.1:p.Cys2337=
ENST00000278616.8:c.7009T= (ATM)	ENSP00000278616.4:p.Cys2337=
ENST00000452508.6:c.7009T= (ATM)	ENSP00000388058.2:p.Cys2337=
ENST00000524792.5:n.3224T= (ATM)
ENST00000525537.2:n.285T= (ATM)
ENST00000525729.5:c.641-18607A= (C11orf65)	ENSP00000433395.1:n.641-18607A=
ENST00000527389.2:n.34T= (ATM)
ENST00000533690.5:n.2413T= (ATM)
NM_000051.3:c.7009T= , LRG_135t1:c.7009T= (ATM)	NP_000042.3:p.Cys2337=
XM_005271561.3:c.7009T= (ATM)	XP_005271618.2:p.Cys2337=
XM_005271562.3:c.7009T= (ATM)	XP_005271619.2:p.Cys2337=
XM_006718843.2:c.7009T= (ATM)	XP_006718906.1:p.Cys2337=
XM_006718845.1:c.2965T= (ATM)	XP_006718908.1:p.Cys989=
XM_011542840.1:c.7009T= (ATM)	XP_011541142.1:p.Cys2337=
XM_011542841.1:c.7009T= (ATM)	XP_011541143.1:p.Cys2337=
XM_011542842.1:c.6844T= (ATM)	XP_011541144.1:p.Cys2282=
XM_011542843.1:c.7009T= (ATM)	XP_011541145.1:p.Cys2337=
XM_011542844.1:c.5965T= (ATM)	XP_011541146.1:p.Cys1989=
XM_011542845.1:c.5701T= (ATM)	XP_011541147.1:p.Cys1901=
XM_011542847.1:c.2080T= (ATM)	XP_011541149.1:p.Cys694=
NM_001330368.1:c.641-18607A= (C11orf65)	NP_001317297.1:n.641-18607A=
NM_001351110.1:c.*38+7542A= (C11orf65)	NP_001338039.1:n.*38+7542A=
NM_001351834.1:c.7009T= (ATM)	NP_001338763.1:p.Cys2337=
XM_005271562.5:c.7009T= (ATM)	XP_005271619.2:p.Cys2337=
XM_006718843.4:c.7009T= (ATM)	XP_006718906.1:p.Cys2337=
XM_006718845.2:c.2965T= (ATM)	XP_006718908.1:p.Cys989=
XM_011542840.3:c.7009T= (ATM)	XP_011541142.1:p.Cys2337=
XM_011542842.3:c.6844T= (ATM)	XP_011541144.1:p.Cys2282=
XM_011542843.2:c.7009T= (ATM)	XP_011541145.1:p.Cys2337=
XM_011542844.3:c.5965T= (ATM)	XP_011541146.1:p.Cys1989=
XM_011542845.2:c.5701T= (ATM)	XP_011541147.1:p.Cys1901=
XM_017017789.2:c.7009T= (ATM)	XP_016873278.1:p.Cys2337=
XM_017017790.2:c.7009T= (ATM)	XP_016873279.1:p.Cys2337=
NM_001330368.2:c.641-18607A= (C11orf65)	NP_001317297.1:n.641-18607A=
NM_001351110.2:c.*38+7542A= (C11orf65)	NP_001338039.1:n.*38+7542A=
NM_001351834.2:c.7009T= (ATM)	NP_001338763.1:p.Cys2337=
NM_000051.4:c.7009T= (ATM) MANE Select	NP_000042.3:p.Cys2337=