Canonical Allele Identifier: CA2695215519

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353863dup , CM000673.2:g.108353863dup	GRCh38
NC_000011.9:g.108224590dup , CM000673.1:g.108224590dup	GRCh37
NC_000011.8:g.107729800dup	NCBI36
NG_009830.1:g.136032dup , LRG_135:g.136032dup
NG_054724.1:g.120971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8769dup (ATM)	ENSP00000388058.2:p.Glu2924Ter
ENST00000713593.1:c.*8240dup (ATM)	ENSP00000518889.1:n.*8240dup
ENST00000278616.9:c.8769dup (ATM)	ENSP00000278616.4:p.Glu2924Ter
ENST00000638786.2:n.1467dup (ATM)
ENST00000682286.1:n.3526dup (ATM)
ENST00000682302.1:n.3187dup (ATM)
ENST00000683174.1:n.10253dup (ATM)
ENST00000683524.1:n.3993dup (ATM)
ENST00000684152.1:n.4185dup (ATM)
ENST00000684180.1:n.1243dup (ATM)
ENST00000684447.1:n.5262dup (ATM)
ENST00000527805.6:c.*3833dup (ATM)	ENSP00000435747.2:n.*3833dup
ENST00000675595.1:c.*3904dup (ATM)	ENSP00000502563.1:n.*3904dup
ENST00000675843.1:c.8769dup (ATM) MANE Select	ENSP00000501606.1:p.Glu2924Ter
ENST00000278616.8:c.8769dup (ATM)	ENSP00000278616.4:p.Glu2924Ter
ENST00000452508.6:c.8769dup (ATM)	ENSP00000388058.2:p.Glu2924Ter
ENST00000524755.5:c.227-18570dup (C11orf65)
ENST00000524792.5:n.4984dup (ATM)
ENST00000525178.5:n.257dup (ATM)
ENST00000525729.5:c.640+32058dup (C11orf65)	ENSP00000433395.1:n.640+32058dup
ENST00000526725.1:n.272-13498dup (C11orf65)
ENST00000527181.1:n.108dup (ATM)
ENST00000527531.5:c.*1196+1053dup (C11orf65)	ENSP00000431706.1:n.*1196+1053dup
ENST00000615746.4:c.*1196+1053dup (C11orf65)	ENSP00000483537.1:n.*1196+1053dup
NM_000051.3:c.8769dup , LRG_135t1:c.8769dup (ATM)	NP_000042.3:p.Glu2924Ter
XM_005271414.3:c.788-18570dup (C11orf65)	XP_005271471.1:n.788-18570dup
XM_005271415.3:c.732-18570dup (C11orf65)	XP_005271472.1:n.732-18570dup
XM_005271561.3:c.8769dup (ATM)	XP_005271618.2:p.Glu2924Ter
XM_005271562.3:c.8769dup (ATM)	XP_005271619.2:p.Glu2924Ter
XM_006718843.2:c.8769dup (ATM)	XP_006718906.1:p.Glu2924Ter
XM_006718845.1:c.4725dup (ATM)	XP_006718908.1:p.Glu1576Ter
XM_011542640.1:c.788-13498dup (C11orf65)	XP_011540942.1:n.788-13498dup
XM_011542642.1:c.732-4789dup (C11orf65)	XP_011540944.1:n.732-4789dup
XM_011542643.1:c.732-13498dup (C11orf65)	XP_011540945.1:n.732-13498dup
XM_011542840.1:c.8769dup (ATM)	XP_011541142.1:p.Glu2924Ter
XM_011542841.1:c.8769dup (ATM)	XP_011541143.1:p.Glu2924Ter
XM_011542842.1:c.8604dup (ATM)	XP_011541144.1:p.Glu2869Ter
XM_011542844.1:c.7725dup (ATM)	XP_011541146.1:p.Glu2576Ter
XM_011542845.1:c.7461dup (ATM)	XP_011541147.1:p.Glu2488Ter
XM_011542847.1:c.3840dup (ATM)	XP_011541149.1:p.Glu1281Ter
NM_001330368.1:c.640+32058dup (C11orf65)	NP_001317297.1:n.640+32058dup
NM_001351110.1:c.695-18570dup (C11orf65)	NP_001338039.1:n.695-18570dup
NM_001351834.1:c.8769dup (ATM)	NP_001338763.1:p.Glu2924Ter
NR_147053.2:n.2301+1053dup (C11orf65)
XM_005271414.4:c.788-18570dup (C11orf65)	XP_005271471.1:n.788-18570dup
XM_005271415.4:c.732-18570dup (C11orf65)	XP_005271472.1:n.732-18570dup
XM_005271562.5:c.8769dup (ATM)	XP_005271619.2:p.Glu2924Ter
XM_006718843.4:c.8769dup (ATM)	XP_006718906.1:p.Glu2924Ter
XM_006718845.2:c.4725dup (ATM)	XP_006718908.1:p.Glu1576Ter
XM_011542640.2:c.788-13498dup (C11orf65)	XP_011540942.1:n.788-13498dup
XM_011542643.2:c.732-13498dup (C11orf65)	XP_011540945.1:n.732-13498dup
XM_011542840.3:c.8769dup (ATM)	XP_011541142.1:p.Glu2924Ter
XM_011542842.3:c.8604dup (ATM)	XP_011541144.1:p.Glu2869Ter
XM_011542844.3:c.7725dup (ATM)	XP_011541146.1:p.Glu2576Ter
XM_011542845.2:c.7461dup (ATM)	XP_011541147.1:p.Glu2488Ter
XM_017017247.1:c.904-13498dup (C11orf65)	XP_016872736.1:n.904-13498dup
XM_017017789.2:c.8769dup (ATM)	XP_016873278.1:p.Glu2924Ter
XM_017017790.2:c.8769dup (ATM)	XP_016873279.1:p.Glu2924Ter
NM_001330368.2:c.640+32058dup (C11orf65)	NP_001317297.1:n.640+32058dup
NM_001351110.2:c.695-18570dup (C11orf65)	NP_001338039.1:n.695-18570dup
NM_001351834.2:c.8769dup (ATM)	NP_001338763.1:p.Glu2924Ter
NM_000051.4:c.8769dup (ATM) MANE Select	NP_000042.3:p.Glu2924Ter
NR_147053.3:n.2299+1053dup (C11orf65)