Canonical Allele Identifier: CA2580083532

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2076161
• ClinVar RCV Id: RCV002972178

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331924del , CM000673.2:g.108331924del	GRCh38
NC_000011.9:g.108202651del , CM000673.1:g.108202651del	GRCh37
NC_000011.8:g.107707861del	NCBI36
NG_009830.1:g.114093del , LRG_135:g.114093del
NG_054724.1:g.142909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7675del (ATM)	ENSP00000388058.2:p.Ile2559LeufsTer5
ENST00000713593.1:c.*7146del (ATM)	ENSP00000518889.1:n.*7146del
ENST00000278616.9:c.7675del (ATM)	ENSP00000278616.4:p.Ile2559LeufsTer5
ENST00000525056.2:n.2094del (ATM)
ENST00000525537.3:n.632del (ATM)
ENST00000638786.2:n.512del (ATM)
ENST00000682286.1:n.2432del (ATM)
ENST00000682302.1:n.2093del (ATM)
ENST00000683174.1:n.9159del (ATM)
ENST00000683524.1:n.2899del (ATM)
ENST00000684152.1:n.3343+367del (ATM)
ENST00000684447.1:n.2459del (ATM)
ENST00000527805.6:c.*2739del (ATM)	ENSP00000435747.2:n.*2739del
ENST00000675595.1:c.*2810del (ATM)	ENSP00000502563.1:n.*2810del
ENST00000675843.1:c.7675del (ATM) MANE Select	ENSP00000501606.1:p.Ile2559LeufsTer5
ENST00000278616.8:c.7675del (ATM)	ENSP00000278616.4:p.Ile2559LeufsTer5
ENST00000452508.6:c.7675del (ATM)	ENSP00000388058.2:p.Ile2559LeufsTer5
ENST00000524755.5:c.300-357del (C11orf65)
ENST00000524792.5:n.3890del (ATM)
ENST00000525729.5:c.641-22853del (C11orf65)	ENSP00000433395.1:n.641-22853del
ENST00000527531.5:c.*1270-357del (C11orf65)	ENSP00000431706.1:n.*1270-357del
ENST00000533690.5:n.3079del (ATM)
ENST00000615746.4:c.*1270-357del (C11orf65)	ENSP00000483537.1:n.*1270-357del
NM_000051.3:c.7675del , LRG_135t1:c.7675del (ATM)	NP_000042.3:p.Ile2559LeufsTer5
XM_005271414.3:c.*39-357del (C11orf65)	XP_005271471.1:n.*39-357del
XM_005271415.3:c.805-357del (C11orf65)	XP_005271472.1:n.805-357del
XM_005271561.3:c.7675del (ATM)	XP_005271618.2:p.Ile2559LeufsTer5
XM_005271562.3:c.7675del (ATM)	XP_005271619.2:p.Ile2559LeufsTer5
XM_006718843.2:c.7675del (ATM)	XP_006718906.1:p.Ile2559LeufsTer5
XM_006718845.1:c.3631del (ATM)	XP_006718908.1:p.Ile1211LeufsTer5
XM_011542840.1:c.7675del (ATM)	XP_011541142.1:p.Ile2559LeufsTer5
XM_011542841.1:c.7675del (ATM)	XP_011541143.1:p.Ile2559LeufsTer5
XM_011542842.1:c.7510del (ATM)	XP_011541144.1:p.Ile2504LeufsTer5
XM_011542843.1:c.7675del (ATM)	XP_011541145.1:p.Ile2559LeufsTer5
XM_011542844.1:c.6631del (ATM)	XP_011541146.1:p.Ile2211LeufsTer5
XM_011542845.1:c.6367del (ATM)	XP_011541147.1:p.Ile2123LeufsTer5
XM_011542847.1:c.2746del (ATM)	XP_011541149.1:p.Ile916LeufsTer5
NM_001330368.1:c.641-22853del (C11orf65)	NP_001317297.1:n.641-22853del
NM_001351110.1:c.*38+3296del (C11orf65)	NP_001338039.1:n.*38+3296del
NM_001351834.1:c.7675del (ATM)	NP_001338763.1:p.Ile2559LeufsTer5
NR_147053.2:n.2375-357del (C11orf65)
XM_005271414.4:c.*39-357del (C11orf65)	XP_005271471.1:n.*39-357del
XM_005271415.4:c.805-357del (C11orf65)	XP_005271472.1:n.805-357del
XM_005271562.5:c.7675del (ATM)	XP_005271619.2:p.Ile2559LeufsTer5
XM_006718843.4:c.7675del (ATM)	XP_006718906.1:p.Ile2559LeufsTer5
XM_006718845.2:c.3631del (ATM)	XP_006718908.1:p.Ile1211LeufsTer5
XM_011542840.3:c.7675del (ATM)	XP_011541142.1:p.Ile2559LeufsTer5
XM_011542842.3:c.7510del (ATM)	XP_011541144.1:p.Ile2504LeufsTer5
XM_011542843.2:c.7675del (ATM)	XP_011541145.1:p.Ile2559LeufsTer5
XM_011542844.3:c.6631del (ATM)	XP_011541146.1:p.Ile2211LeufsTer5
XM_011542845.2:c.6367del (ATM)	XP_011541147.1:p.Ile2123LeufsTer5
XM_017017789.2:c.7675del (ATM)	XP_016873278.1:p.Ile2559LeufsTer5
XM_017017790.2:c.7675del (ATM)	XP_016873279.1:p.Ile2559LeufsTer5
NM_001330368.2:c.641-22853del (C11orf65)	NP_001317297.1:n.641-22853del
NM_001351110.2:c.*38+3296del (C11orf65)	NP_001338039.1:n.*38+3296del
NM_001351834.2:c.7675del (ATM)	NP_001338763.1:p.Ile2559LeufsTer5
NM_000051.4:c.7675del (ATM) MANE Select	NP_000042.3:p.Ile2559LeufsTer5
NR_147053.3:n.2373-357del (C11orf65)