Canonical Allele Identifier: CA2580615033

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1072378
• ClinVar RCV Id: RCV001385068 ; RCV003469713
• dbSNP Id: rs786202800

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343348_108343357dup , CM000673.2:g.108343348_108343357dup	GRCh38
NC_000011.9:g.108214075_108214084dup , CM000673.1:g.108214075_108214084dup	GRCh37
NC_000011.8:g.107719285_107719294dup	NCBI36
NG_009830.1:g.125517_125526dup , LRG_135:g.125517_125526dup
NG_054724.1:g.131486_131495dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8395_8404dup (ATM)	ENSP00000388058.2:p.Gln2802LeufsTer16
ENST00000713593.1:c.*7866_*7875dup (ATM)	ENSP00000518889.1:n.*7866_*7875dup
ENST00000278616.9:c.8395_8404dup (ATM)	ENSP00000278616.4:p.Gln2802LeufsTer16
ENST00000638786.2:n.1093_1102dup (ATM)
ENST00000682286.1:n.3152_3161dup (ATM)
ENST00000682302.1:n.2813_2822dup (ATM)
ENST00000683174.1:n.9879_9888dup (ATM)
ENST00000683524.1:n.3619_3628dup (ATM)
ENST00000684152.1:n.3811_3820dup (ATM)
ENST00000684180.1:n.869_878dup (ATM)
ENST00000684447.1:n.4888_4897dup (ATM)
ENST00000527805.6:c.*3459_*3468dup (ATM)	ENSP00000435747.2:n.*3459_*3468dup
ENST00000675595.1:c.*3530_*3539dup (ATM)	ENSP00000502563.1:n.*3530_*3539dup
ENST00000675843.1:c.8395_8404dup (ATM) MANE Select	ENSP00000501606.1:p.Gln2802LeufsTer16
ENST00000278616.8:c.8395_8404dup (ATM)	ENSP00000278616.4:p.Gln2802LeufsTer16
ENST00000452508.6:c.8395_8404dup (ATM)	ENSP00000388058.2:p.Gln2802LeufsTer16
ENST00000524755.5:c.227-8055_227-8046dup (C11orf65)
ENST00000524792.5:n.4610_4619dup (ATM)
ENST00000525729.5:c.641-34276_641-34267dup (C11orf65)	ENSP00000433395.1:n.641-34276_641-34267du...
ENST00000526725.1:n.272-2983_272-2974dup (C11orf65)
ENST00000527531.5:c.*1197-8055_*1197-8046dup (C11orf65)	ENSP00000431706.1:n.*1197-8055_*1197-8046...
ENST00000615746.4:c.*1197-8055_*1197-8046dup (C11orf65)	ENSP00000483537.1:n.*1197-8055_*1197-8046...
NM_000051.3:c.8395_8404dup , LRG_135t1:c.8395_8404dup (ATM)	NP_000042.3:p.Gln2802LeufsTer16
XM_005271414.3:c.788-8055_788-8046dup (C11orf65)	XP_005271471.1:n.788-8055_788-8046dup
XM_005271415.3:c.732-8055_732-8046dup (C11orf65)	XP_005271472.1:n.732-8055_732-8046dup
XM_005271561.3:c.8395_8404dup (ATM)	XP_005271618.2:p.Gln2802LeufsTer16
XM_005271562.3:c.8395_8404dup (ATM)	XP_005271619.2:p.Gln2802LeufsTer16
XM_006718843.2:c.8395_8404dup (ATM)	XP_006718906.1:p.Gln2802LeufsTer16
XM_006718845.1:c.4351_4360dup (ATM)	XP_006718908.1:p.Gln1454LeufsTer16
XM_011542640.1:c.788-2983_788-2974dup (C11orf65)	XP_011540942.1:n.788-2983_788-2974dup
XM_011542643.1:c.732-2983_732-2974dup (C11orf65)	XP_011540945.1:n.732-2983_732-2974dup
XM_011542840.1:c.8395_8404dup (ATM)	XP_011541142.1:p.Gln2802LeufsTer16
XM_011542841.1:c.8395_8404dup (ATM)	XP_011541143.1:p.Gln2802LeufsTer16
XM_011542842.1:c.8230_8239dup (ATM)	XP_011541144.1:p.Gln2747LeufsTer16
XM_011542843.1:c.8395_8404dup (ATM)	XP_011541145.1:p.Gln2802LeufsTer16
XM_011542844.1:c.7351_7360dup (ATM)	XP_011541146.1:p.Gln2454LeufsTer16
XM_011542845.1:c.7087_7096dup (ATM)	XP_011541147.1:p.Gln2366LeufsTer16
XM_011542847.1:c.3466_3475dup (ATM)	XP_011541149.1:p.Gln1159LeufsTer16
NM_001330368.1:c.641-34276_641-34267dup (C11orf65)	NP_001317297.1:n.641-34276_641-34267dup
NM_001351110.1:c.695-8055_695-8046dup (C11orf65)	NP_001338039.1:n.695-8055_695-8046dup
NM_001351834.1:c.8395_8404dup (ATM)	NP_001338763.1:p.Gln2802LeufsTer16
NR_147053.2:n.2302-8055_2302-8046dup (C11orf65)
XM_005271414.4:c.788-8055_788-8046dup (C11orf65)	XP_005271471.1:n.788-8055_788-8046dup
XM_005271415.4:c.732-8055_732-8046dup (C11orf65)	XP_005271472.1:n.732-8055_732-8046dup
XM_005271562.5:c.8395_8404dup (ATM)	XP_005271619.2:p.Gln2802LeufsTer16
XM_006718843.4:c.8395_8404dup (ATM)	XP_006718906.1:p.Gln2802LeufsTer16
XM_006718845.2:c.4351_4360dup (ATM)	XP_006718908.1:p.Gln1454LeufsTer16
XM_011542640.2:c.788-2983_788-2974dup (C11orf65)	XP_011540942.1:n.788-2983_788-2974dup
XM_011542643.2:c.732-2983_732-2974dup (C11orf65)	XP_011540945.1:n.732-2983_732-2974dup
XM_011542840.3:c.8395_8404dup (ATM)	XP_011541142.1:p.Gln2802LeufsTer16
XM_011542842.3:c.8230_8239dup (ATM)	XP_011541144.1:p.Gln2747LeufsTer16
XM_011542843.2:c.8395_8404dup (ATM)	XP_011541145.1:p.Gln2802LeufsTer16
XM_011542844.3:c.7351_7360dup (ATM)	XP_011541146.1:p.Gln2454LeufsTer16
XM_011542845.2:c.7087_7096dup (ATM)	XP_011541147.1:p.Gln2366LeufsTer16
XM_017017247.1:c.904-2983_904-2974dup (C11orf65)	XP_016872736.1:n.904-2983_904-2974dup
XM_017017789.2:c.8395_8404dup (ATM)	XP_016873278.1:p.Gln2802LeufsTer16
XM_017017790.2:c.8395_8404dup (ATM)	XP_016873279.1:p.Gln2802LeufsTer16
NM_001330368.2:c.641-34276_641-34267dup (C11orf65)	NP_001317297.1:n.641-34276_641-34267dup
NM_001351110.2:c.695-8055_695-8046dup (C11orf65)	NP_001338039.1:n.695-8055_695-8046dup
NM_001351834.2:c.8395_8404dup (ATM)	NP_001338763.1:p.Gln2802LeufsTer16
NM_000051.4:c.8395_8404dup (ATM) MANE Select	NP_000042.3:p.Gln2802LeufsTer16
NR_147053.3:n.2300-8055_2300-8046dup (C11orf65)