Canonical Allele Identifier: CA2499220714

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1074991
• ClinVar RCV Id: RCV001388469
• dbSNP Id: rs2136518319

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331915_108331933del , CM000673.2:g.108331915_108331933del	GRCh38
NC_000011.9:g.108202642_108202660del , CM000673.1:g.108202642_108202660del	GRCh37
NC_000011.8:g.107707852_107707870del	NCBI36
NG_009830.1:g.114084_114102del , LRG_135:g.114084_114102del
NG_054724.1:g.142900_142918del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7666_7684del (ATM)	ENSP00000388058.2:p.Thr2556ProfsTer2
ENST00000713593.1:c.*7137_*7155del (ATM)	ENSP00000518889.1:n.*7137_*7155del
ENST00000278616.9:c.7666_7684del (ATM)	ENSP00000278616.4:p.Thr2556ProfsTer2
ENST00000525056.2:n.2085_2103del (ATM)
ENST00000525537.3:n.623_641del (ATM)
ENST00000638786.2:n.503_521del (ATM)
ENST00000682286.1:n.2423_2441del (ATM)
ENST00000682302.1:n.2084_2102del (ATM)
ENST00000683174.1:n.9150_9168del (ATM)
ENST00000683524.1:n.2890_2908del (ATM)
ENST00000684152.1:n.3343+358_3343+376del (ATM)
ENST00000684447.1:n.2450_2468del (ATM)
ENST00000527805.6:c.*2730_*2748del (ATM)	ENSP00000435747.2:n.*2730_*2748del
ENST00000675595.1:c.*2801_*2819del (ATM)	ENSP00000502563.1:n.*2801_*2819del
ENST00000675843.1:c.7666_7684del (ATM) MANE Select	ENSP00000501606.1:p.Thr2556ProfsTer2
ENST00000278616.8:c.7666_7684del (ATM)	ENSP00000278616.4:p.Thr2556ProfsTer2
ENST00000452508.6:c.7666_7684del (ATM)	ENSP00000388058.2:p.Thr2556ProfsTer2
ENST00000524755.5:c.300-366_300-348del (C11orf65)
ENST00000524792.5:n.3881_3899del (ATM)
ENST00000525729.5:c.641-22862_641-22844del (C11orf65)	ENSP00000433395.1:n.641-22862_641-22844de...
ENST00000527531.5:c.*1270-366_*1270-348del (C11orf65)	ENSP00000431706.1:n.*1270-366_*1270-348de...
ENST00000533690.5:n.3070_3088del (ATM)
ENST00000615746.4:c.*1270-366_*1270-348del (C11orf65)	ENSP00000483537.1:n.*1270-366_*1270-348de...
NM_000051.3:c.7666_7684del , LRG_135t1:c.7666_7684del (ATM)	NP_000042.3:p.Thr2556ProfsTer2
XM_005271414.3:c.*39-366_*39-348del (C11orf65)	XP_005271471.1:n.*39-366_*39-348del
XM_005271415.3:c.805-366_805-348del (C11orf65)	XP_005271472.1:n.805-366_805-348del
XM_005271561.3:c.7666_7684del (ATM)	XP_005271618.2:p.Thr2556ProfsTer2
XM_005271562.3:c.7666_7684del (ATM)	XP_005271619.2:p.Thr2556ProfsTer2
XM_006718843.2:c.7666_7684del (ATM)	XP_006718906.1:p.Thr2556ProfsTer2
XM_006718845.1:c.3622_3640del (ATM)	XP_006718908.1:p.Thr1208ProfsTer2
XM_011542840.1:c.7666_7684del (ATM)	XP_011541142.1:p.Thr2556ProfsTer2
XM_011542841.1:c.7666_7684del (ATM)	XP_011541143.1:p.Thr2556ProfsTer2
XM_011542842.1:c.7501_7519del (ATM)	XP_011541144.1:p.Thr2501ProfsTer2
XM_011542843.1:c.7666_7684del (ATM)	XP_011541145.1:p.Thr2556ProfsTer2
XM_011542844.1:c.6622_6640del (ATM)	XP_011541146.1:p.Thr2208ProfsTer2
XM_011542845.1:c.6358_6376del (ATM)	XP_011541147.1:p.Thr2120ProfsTer2
XM_011542847.1:c.2737_2755del (ATM)	XP_011541149.1:p.Thr913ProfsTer2
NM_001330368.1:c.641-22862_641-22844del (C11orf65)	NP_001317297.1:n.641-22862_641-22844del
NM_001351110.1:c.*38+3287_*38+3305del (C11orf65)	NP_001338039.1:n.*38+3287_*38+3305del
NM_001351834.1:c.7666_7684del (ATM)	NP_001338763.1:p.Thr2556ProfsTer2
NR_147053.2:n.2375-366_2375-348del (C11orf65)
XM_005271414.4:c.*39-366_*39-348del (C11orf65)	XP_005271471.1:n.*39-366_*39-348del
XM_005271415.4:c.805-366_805-348del (C11orf65)	XP_005271472.1:n.805-366_805-348del
XM_005271562.5:c.7666_7684del (ATM)	XP_005271619.2:p.Thr2556ProfsTer2
XM_006718843.4:c.7666_7684del (ATM)	XP_006718906.1:p.Thr2556ProfsTer2
XM_006718845.2:c.3622_3640del (ATM)	XP_006718908.1:p.Thr1208ProfsTer2
XM_011542840.3:c.7666_7684del (ATM)	XP_011541142.1:p.Thr2556ProfsTer2
XM_011542842.3:c.7501_7519del (ATM)	XP_011541144.1:p.Thr2501ProfsTer2
XM_011542843.2:c.7666_7684del (ATM)	XP_011541145.1:p.Thr2556ProfsTer2
XM_011542844.3:c.6622_6640del (ATM)	XP_011541146.1:p.Thr2208ProfsTer2
XM_011542845.2:c.6358_6376del (ATM)	XP_011541147.1:p.Thr2120ProfsTer2
XM_017017789.2:c.7666_7684del (ATM)	XP_016873278.1:p.Thr2556ProfsTer2
XM_017017790.2:c.7666_7684del (ATM)	XP_016873279.1:p.Thr2556ProfsTer2
NM_001330368.2:c.641-22862_641-22844del (C11orf65)	NP_001317297.1:n.641-22862_641-22844del
NM_001351110.2:c.*38+3287_*38+3305del (C11orf65)	NP_001338039.1:n.*38+3287_*38+3305del
NM_001351834.2:c.7666_7684del (ATM)	NP_001338763.1:p.Thr2556ProfsTer2
NM_000051.4:c.7666_7684del (ATM) MANE Select	NP_000042.3:p.Thr2556ProfsTer2
NR_147053.3:n.2373-366_2373-348del (C11orf65)