Canonical Allele Identifier: CA1998821180

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354837T= , CM000673.2:g.108354837T=	GRCh38
NC_000011.9:g.108225564T= , CM000673.1:g.108225564T=	GRCh37
NC_000011.8:g.107730774T=	NCBI36
NG_009830.1:g.137006T= , LRG_135:g.137006T=
NG_054724.1:g.119996A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8813T= (ATM)	ENSP00000388058.2:p.Met2938=
ENST00000713593.1:c.*8284T= (ATM)	ENSP00000518889.1:n.*8284T=
ENST00000278616.9:c.8813T= (ATM)	ENSP00000278616.4:p.Met2938=
ENST00000638786.2:n.1511T= (ATM)
ENST00000682286.1:n.3570T= (ATM)
ENST00000682302.1:n.3231T= (ATM)
ENST00000683174.1:n.10297T= (ATM)
ENST00000683524.1:n.4037T= (ATM)
ENST00000684152.1:n.4229T= (ATM)
ENST00000684180.1:n.1287T= (ATM)
ENST00000684447.1:n.5306T= (ATM)
ENST00000527805.6:c.*3877T= (ATM)	ENSP00000435747.2:n.*3877T=
ENST00000675595.1:c.*3948T= (ATM)	ENSP00000502563.1:n.*3948T=
ENST00000675843.1:c.8813T= (ATM) MANE Select	ENSP00000501606.1:p.Met2938=
ENST00000278616.8:c.8813T= (ATM)	ENSP00000278616.4:p.Met2938=
ENST00000452508.6:c.8813T= (ATM)	ENSP00000388058.2:p.Met2938=
ENST00000524755.5:c.227-19545A= (C11orf65)
ENST00000524792.5:n.5028T= (ATM)
ENST00000525178.5:n.301T= (ATM)
ENST00000525729.5:c.640+31083A= (C11orf65)	ENSP00000433395.1:n.640+31083A=
ENST00000526725.1:n.272-14473A= (C11orf65)
ENST00000527181.1:n.152T= (ATM)
ENST00000527531.5:c.*1196+78A= (C11orf65)	ENSP00000431706.1:n.*1196+78A=
ENST00000615746.4:c.*1196+78A= (C11orf65)	ENSP00000483537.1:n.*1196+78A=
NM_000051.3:c.8813T= , LRG_135t1:c.8813T= (ATM)	NP_000042.3:p.Met2938=
XM_005271414.3:c.788-19545A= (C11orf65)	XP_005271471.1:n.788-19545A=
XM_005271415.3:c.732-19545A= (C11orf65)	XP_005271472.1:n.732-19545A=
XM_005271561.3:c.8813T= (ATM)	XP_005271618.2:p.Met2938=
XM_005271562.3:c.8813T= (ATM)	XP_005271619.2:p.Met2938=
XM_006718843.2:c.8813T= (ATM)	XP_006718906.1:p.Met2938=
XM_006718845.1:c.4769T= (ATM)	XP_006718908.1:p.Met1590=
XM_011542640.1:c.788-14473A= (C11orf65)	XP_011540942.1:n.788-14473A=
XM_011542642.1:c.732-5764A= (C11orf65)	XP_011540944.1:n.732-5764A=
XM_011542643.1:c.732-14473A= (C11orf65)	XP_011540945.1:n.732-14473A=
XM_011542840.1:c.8813T= (ATM)	XP_011541142.1:p.Met2938=
XM_011542841.1:c.8813T= (ATM)	XP_011541143.1:p.Met2938=
XM_011542842.1:c.8648T= (ATM)	XP_011541144.1:p.Met2883=
XM_011542844.1:c.7769T= (ATM)	XP_011541146.1:p.Met2590=
XM_011542845.1:c.7505T= (ATM)	XP_011541147.1:p.Met2502=
XM_011542847.1:c.3884T= (ATM)	XP_011541149.1:p.Met1295=
NM_001330368.1:c.640+31083A= (C11orf65)	NP_001317297.1:n.640+31083A=
NM_001351110.1:c.695-19545A= (C11orf65)	NP_001338039.1:n.695-19545A=
NM_001351834.1:c.8813T= (ATM)	NP_001338763.1:p.Met2938=
NR_147053.2:n.2301+78A= (C11orf65)
XM_005271414.4:c.788-19545A= (C11orf65)	XP_005271471.1:n.788-19545A=
XM_005271415.4:c.732-19545A= (C11orf65)	XP_005271472.1:n.732-19545A=
XM_005271562.5:c.8813T= (ATM)	XP_005271619.2:p.Met2938=
XM_006718843.4:c.8813T= (ATM)	XP_006718906.1:p.Met2938=
XM_006718845.2:c.4769T= (ATM)	XP_006718908.1:p.Met1590=
XM_011542640.2:c.788-14473A= (C11orf65)	XP_011540942.1:n.788-14473A=
XM_011542643.2:c.732-14473A= (C11orf65)	XP_011540945.1:n.732-14473A=
XM_011542840.3:c.8813T= (ATM)	XP_011541142.1:p.Met2938=
XM_011542842.3:c.8648T= (ATM)	XP_011541144.1:p.Met2883=
XM_011542844.3:c.7769T= (ATM)	XP_011541146.1:p.Met2590=
XM_011542845.2:c.7505T= (ATM)	XP_011541147.1:p.Met2502=
XM_017017247.1:c.904-14473A= (C11orf65)	XP_016872736.1:n.904-14473A=
XM_017017789.2:c.8813T= (ATM)	XP_016873278.1:p.Met2938=
XM_017017790.2:c.8813T= (ATM)	XP_016873279.1:p.Met2938=
NM_001330368.2:c.640+31083A= (C11orf65)	NP_001317297.1:n.640+31083A=
NM_001351110.2:c.695-19545A= (C11orf65)	NP_001338039.1:n.695-19545A=
NM_001351834.2:c.8813T= (ATM)	NP_001338763.1:p.Met2938=
NM_000051.4:c.8813T= (ATM) MANE Select	NP_000042.3:p.Met2938=
NR_147053.3:n.2299+78A= (C11orf65)