Canonical Allele Identifier: CA1998809685

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331490A= , CM000673.2:g.108331490A=	GRCh38
NC_000011.9:g.108202217A= , CM000673.1:g.108202217A=	GRCh37
NC_000011.8:g.107707427A=	NCBI36
NG_009830.1:g.113659A= , LRG_135:g.113659A=
NG_054724.1:g.143343T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7562A= (ATM)	ENSP00000388058.2:p.Tyr2521=
ENST00000713593.1:c.*7033A= (ATM)	ENSP00000518889.1:n.*7033A=
ENST00000278616.9:c.7562A= (ATM)	ENSP00000278616.4:p.Tyr2521=
ENST00000525056.2:n.1981A= (ATM)
ENST00000525537.3:n.519A= (ATM)
ENST00000638786.2:n.399A= (ATM)
ENST00000682286.1:n.2319A= (ATM)
ENST00000682302.1:n.1980A= (ATM)
ENST00000683174.1:n.9046A= (ATM)
ENST00000683524.1:n.2786A= (ATM)
ENST00000684152.1:n.3276A= (ATM)
ENST00000684447.1:n.2025A= (ATM)
ENST00000527805.6:c.*2626A= (ATM)	ENSP00000435747.2:n.*2626A=
ENST00000675595.1:c.*2697A= (ATM)	ENSP00000502563.1:n.*2697A=
ENST00000675843.1:c.7562A= (ATM) MANE Select	ENSP00000501606.1:p.Tyr2521=
ENST00000278616.8:c.7562A= (ATM)	ENSP00000278616.4:p.Tyr2521=
ENST00000452508.6:c.7562A= (ATM)	ENSP00000388058.2:p.Tyr2521=
ENST00000524755.5:c.377T= (C11orf65)
ENST00000524792.5:n.3777A= (ATM)
ENST00000525729.5:c.641-22419T= (C11orf65)	ENSP00000433395.1:n.641-22419T=
ENST00000527531.5:c.*1347T= (C11orf65)	ENSP00000431706.1:n.*1347T=
ENST00000533690.5:n.2966A= (ATM)
ENST00000615746.4:c.*1347T= (C11orf65)	ENSP00000483537.1:n.*1347T=
NM_000051.3:c.7562A= , LRG_135t1:c.7562A= (ATM)	NP_000042.3:p.Tyr2521=
XM_005271414.3:c.*116T= (C11orf65)	XP_005271471.1:n.*116T=
XM_005271415.3:c.*60T= (C11orf65)	XP_005271472.1:n.*60T=
XM_005271561.3:c.7562A= (ATM)	XP_005271618.2:p.Tyr2521=
XM_005271562.3:c.7562A= (ATM)	XP_005271619.2:p.Tyr2521=
XM_006718843.2:c.7562A= (ATM)	XP_006718906.1:p.Tyr2521=
XM_006718845.1:c.3518A= (ATM)	XP_006718908.1:p.Tyr1173=
XM_011542840.1:c.7562A= (ATM)	XP_011541142.1:p.Tyr2521=
XM_011542841.1:c.7562A= (ATM)	XP_011541143.1:p.Tyr2521=
XM_011542842.1:c.7397A= (ATM)	XP_011541144.1:p.Tyr2466=
XM_011542843.1:c.7562A= (ATM)	XP_011541145.1:p.Tyr2521=
XM_011542844.1:c.6518A= (ATM)	XP_011541146.1:p.Tyr2173=
XM_011542845.1:c.6254A= (ATM)	XP_011541147.1:p.Tyr2085=
XM_011542847.1:c.2633A= (ATM)	XP_011541149.1:p.Tyr878=
NM_001330368.1:c.641-22419T= (C11orf65)	NP_001317297.1:n.641-22419T=
NM_001351110.1:c.*38+3730T= (C11orf65)	NP_001338039.1:n.*38+3730T=
NM_001351834.1:c.7562A= (ATM)	NP_001338763.1:p.Tyr2521=
NR_147053.2:n.2452T= (C11orf65)
XM_005271414.4:c.*116T= (C11orf65)	XP_005271471.1:n.*116T=
XM_005271415.4:c.*60T= (C11orf65)	XP_005271472.1:n.*60T=
XM_005271562.5:c.7562A= (ATM)	XP_005271619.2:p.Tyr2521=
XM_006718843.4:c.7562A= (ATM)	XP_006718906.1:p.Tyr2521=
XM_006718845.2:c.3518A= (ATM)	XP_006718908.1:p.Tyr1173=
XM_011542840.3:c.7562A= (ATM)	XP_011541142.1:p.Tyr2521=
XM_011542842.3:c.7397A= (ATM)	XP_011541144.1:p.Tyr2466=
XM_011542843.2:c.7562A= (ATM)	XP_011541145.1:p.Tyr2521=
XM_011542844.3:c.6518A= (ATM)	XP_011541146.1:p.Tyr2173=
XM_011542845.2:c.6254A= (ATM)	XP_011541147.1:p.Tyr2085=
XM_017017789.2:c.7562A= (ATM)	XP_016873278.1:p.Tyr2521=
XM_017017790.2:c.7562A= (ATM)	XP_016873279.1:p.Tyr2521=
NM_001330368.2:c.641-22419T= (C11orf65)	NP_001317297.1:n.641-22419T=
NM_001351110.2:c.*38+3730T= (C11orf65)	NP_001338039.1:n.*38+3730T=
NM_001351834.2:c.7562A= (ATM)	NP_001338763.1:p.Tyr2521=
NM_000051.4:c.7562A= (ATM) MANE Select	NP_000042.3:p.Tyr2521=
NR_147053.3:n.2450T= (C11orf65)