Canonical Allele Identifier: CA1998796450

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310181T= , CM000673.2:g.108310181T=	GRCh38
NC_000011.9:g.108180908T= , CM000673.1:g.108180908T=	GRCh37
NC_000011.8:g.107686118T=	NCBI36
NG_009830.1:g.92350T= , LRG_135:g.92350T=
NG_054724.1:g.164652A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5784T= (ATM)	ENSP00000388058.2:p.Phe1928=
ENST00000713593.1:c.*5255T= (ATM)	ENSP00000518889.1:n.*5255T=
ENST00000278616.9:c.5784T= (ATM)	ENSP00000278616.4:p.Phe1928=
ENST00000525056.2:n.203T= (ATM)
ENST00000682286.1:n.541T= (ATM)
ENST00000682302.1:n.202T= (ATM)
ENST00000683174.1:n.7268T= (ATM)
ENST00000683524.1:n.1008T= (ATM)
ENST00000684152.1:n.1498T= (ATM)
ENST00000527805.6:c.*848T= (ATM)	ENSP00000435747.2:n.*848T=
ENST00000675595.1:c.*848T= (ATM)	ENSP00000502563.1:n.*848T=
ENST00000675843.1:c.5784T= (ATM) MANE Select	ENSP00000501606.1:p.Phe1928=
ENST00000278616.8:c.5784T= (ATM)	ENSP00000278616.4:p.Phe1928=
ENST00000452508.6:c.5784T= (ATM)	ENSP00000388058.2:p.Phe1928=
ENST00000524792.5:n.1999T= (ATM)
ENST00000525729.5:c.641-1110A= (C11orf65)	ENSP00000433395.1:n.641-1110A=
ENST00000529588.5:c.208T= (ATM)
ENST00000532765.1:n.101T= (ATM)
ENST00000533690.5:n.1188T= (ATM)
NM_000051.3:c.5784T= , LRG_135t1:c.5784T= (ATM)	NP_000042.3:p.Phe1928=
XM_005271561.3:c.5784T= (ATM)	XP_005271618.2:p.Phe1928=
XM_005271562.3:c.5784T= (ATM)	XP_005271619.2:p.Phe1928=
XM_006718843.2:c.5784T= (ATM)	XP_006718906.1:p.Phe1928=
XM_006718845.1:c.1740T= (ATM)	XP_006718908.1:p.Phe580=
XM_011542840.1:c.5784T= (ATM)	XP_011541142.1:p.Phe1928=
XM_011542841.1:c.5784T= (ATM)	XP_011541143.1:p.Phe1928=
XM_011542842.1:c.5619T= (ATM)	XP_011541144.1:p.Phe1873=
XM_011542843.1:c.5784T= (ATM)	XP_011541145.1:p.Phe1928=
XM_011542844.1:c.4740T= (ATM)	XP_011541146.1:p.Phe1580=
XM_011542845.1:c.4476T= (ATM)	XP_011541147.1:p.Phe1492=
XM_011542847.1:c.855T= (ATM)	XP_011541149.1:p.Phe285=
NM_001330368.1:c.641-1110A= (C11orf65)	NP_001317297.1:n.641-1110A=
NM_001351110.1:c.*39-1110A= (C11orf65)	NP_001338039.1:n.*39-1110A=
NM_001351834.1:c.5784T= (ATM)	NP_001338763.1:p.Phe1928=
XM_005271562.5:c.5784T= (ATM)	XP_005271619.2:p.Phe1928=
XM_006718843.4:c.5784T= (ATM)	XP_006718906.1:p.Phe1928=
XM_006718845.2:c.1740T= (ATM)	XP_006718908.1:p.Phe580=
XM_011542840.3:c.5784T= (ATM)	XP_011541142.1:p.Phe1928=
XM_011542842.3:c.5619T= (ATM)	XP_011541144.1:p.Phe1873=
XM_011542843.2:c.5784T= (ATM)	XP_011541145.1:p.Phe1928=
XM_011542844.3:c.4740T= (ATM)	XP_011541146.1:p.Phe1580=
XM_011542845.2:c.4476T= (ATM)	XP_011541147.1:p.Phe1492=
XM_017017789.2:c.5784T= (ATM)	XP_016873278.1:p.Phe1928=
XM_017017790.2:c.5784T= (ATM)	XP_016873279.1:p.Phe1928=
XM_017017791.1:c.5784T= (ATM)	XP_016873280.1:p.Phe1928=
XR_002957150.1:n.6384T= (ATM)
NM_001330368.2:c.641-1110A= (C11orf65)	NP_001317297.1:n.641-1110A=
NM_001351110.2:c.*39-1110A= (C11orf65)	NP_001338039.1:n.*39-1110A=
NM_001351834.2:c.5784T= (ATM)	NP_001338763.1:p.Phe1928=
NM_000051.4:c.5784T= (ATM) MANE Select	NP_000042.3:p.Phe1928=