Canonical Allele Identifier: CA1998808469

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326192A= , CM000673.2:g.108326192A=	GRCh38
NC_000011.9:g.108196919A= , CM000673.1:g.108196919A=	GRCh37
NC_000011.8:g.107702129A=	NCBI36
NG_009830.1:g.108361A= , LRG_135:g.108361A=
NG_054724.1:g.148641T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6942A= (ATM)	ENSP00000388058.2:p.Gln2314=
ENST00000713593.1:c.*6413A= (ATM)	ENSP00000518889.1:n.*6413A=
ENST00000278616.9:c.6942A= (ATM)	ENSP00000278616.4:p.Gln2314=
ENST00000525056.2:n.1361A= (ATM)
ENST00000682286.1:n.1699A= (ATM)
ENST00000682302.1:n.1360A= (ATM)
ENST00000683174.1:n.8426A= (ATM)
ENST00000683524.1:n.2166A= (ATM)
ENST00000684152.1:n.2656A= (ATM)
ENST00000527805.6:c.*2006A= (ATM)	ENSP00000435747.2:n.*2006A=
ENST00000675595.1:c.*2077A= (ATM)	ENSP00000502563.1:n.*2077A=
ENST00000675843.1:c.6942A= (ATM) MANE Select	ENSP00000501606.1:p.Gln2314=
ENST00000278616.8:c.6942A= (ATM)	ENSP00000278616.4:p.Gln2314=
ENST00000452508.6:c.6942A= (ATM)	ENSP00000388058.2:p.Gln2314=
ENST00000524792.5:n.3157A= (ATM)
ENST00000525729.5:c.641-17121T= (C11orf65)	ENSP00000433395.1:n.641-17121T=
ENST00000533690.5:n.2346A= (ATM)
NM_000051.3:c.6942A= , LRG_135t1:c.6942A= (ATM)	NP_000042.3:p.Gln2314=
XM_005271561.3:c.6942A= (ATM)	XP_005271618.2:p.Gln2314=
XM_005271562.3:c.6942A= (ATM)	XP_005271619.2:p.Gln2314=
XM_006718843.2:c.6942A= (ATM)	XP_006718906.1:p.Gln2314=
XM_006718845.1:c.2898A= (ATM)	XP_006718908.1:p.Gln966=
XM_011542840.1:c.6942A= (ATM)	XP_011541142.1:p.Gln2314=
XM_011542841.1:c.6942A= (ATM)	XP_011541143.1:p.Gln2314=
XM_011542842.1:c.6777A= (ATM)	XP_011541144.1:p.Gln2259=
XM_011542843.1:c.6942A= (ATM)	XP_011541145.1:p.Gln2314=
XM_011542844.1:c.5898A= (ATM)	XP_011541146.1:p.Gln1966=
XM_011542845.1:c.5634A= (ATM)	XP_011541147.1:p.Gln1878=
XM_011542847.1:c.2013A= (ATM)	XP_011541149.1:p.Gln671=
NM_001330368.1:c.641-17121T= (C11orf65)	NP_001317297.1:n.641-17121T=
NM_001351110.1:c.*38+9028T= (C11orf65)	NP_001338039.1:n.*38+9028T=
NM_001351834.1:c.6942A= (ATM)	NP_001338763.1:p.Gln2314=
XM_005271562.5:c.6942A= (ATM)	XP_005271619.2:p.Gln2314=
XM_006718843.4:c.6942A= (ATM)	XP_006718906.1:p.Gln2314=
XM_006718845.2:c.2898A= (ATM)	XP_006718908.1:p.Gln966=
XM_011542840.3:c.6942A= (ATM)	XP_011541142.1:p.Gln2314=
XM_011542842.3:c.6777A= (ATM)	XP_011541144.1:p.Gln2259=
XM_011542843.2:c.6942A= (ATM)	XP_011541145.1:p.Gln2314=
XM_011542844.3:c.5898A= (ATM)	XP_011541146.1:p.Gln1966=
XM_011542845.2:c.5634A= (ATM)	XP_011541147.1:p.Gln1878=
XM_017017789.2:c.6942A= (ATM)	XP_016873278.1:p.Gln2314=
XM_017017790.2:c.6942A= (ATM)	XP_016873279.1:p.Gln2314=
NM_001330368.2:c.641-17121T= (C11orf65)	NP_001317297.1:n.641-17121T=
NM_001351110.2:c.*38+9028T= (C11orf65)	NP_001338039.1:n.*38+9028T=
NM_001351834.2:c.6942A= (ATM)	NP_001338763.1:p.Gln2314=
NM_000051.4:c.6942A= (ATM) MANE Select	NP_000042.3:p.Gln2314=