Canonical Allele Identifier: CA2725235141

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2136565944

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332821_108332827del , CM000673.2:g.108332821_108332827del	GRCh38
NC_000011.9:g.108203548_108203554del , CM000673.1:g.108203548_108203554del	GRCh37
NC_000011.8:g.107708758_107708764del	NCBI36
NG_009830.1:g.114990_114996del , LRG_135:g.114990_114996del
NG_054724.1:g.142006_142012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7848_7854del (ATM)	ENSP00000388058.2:p.Met2616IlefsTer13
ENST00000713593.1:c.*7319_*7325del (ATM)	ENSP00000518889.1:n.*7319_*7325del
ENST00000278616.9:c.7848_7854del (ATM)	ENSP00000278616.4:p.Met2616IlefsTer13
ENST00000525056.2:n.2267_2273del (ATM)
ENST00000525537.3:n.1529_1535del (ATM)
ENST00000638786.2:n.625+784_625+790del (ATM)
ENST00000682286.1:n.2605_2611del (ATM)
ENST00000682302.1:n.2266_2272del (ATM)
ENST00000683174.1:n.9332_9338del (ATM)
ENST00000683524.1:n.3072_3078del (ATM)
ENST00000684152.1:n.3344-1065_3344-1059del (ATM)
ENST00000684180.1:n.322_328del (ATM)
ENST00000684447.1:n.3356_3362del (ATM)
ENST00000527805.6:c.*2912_*2918del (ATM)	ENSP00000435747.2:n.*2912_*2918del
ENST00000675595.1:c.*2983_*2989del (ATM)	ENSP00000502563.1:n.*2983_*2989del
ENST00000675843.1:c.7848_7854del (ATM) MANE Select	ENSP00000501606.1:p.Met2616IlefsTer13
ENST00000278616.8:c.7848_7854del (ATM)	ENSP00000278616.4:p.Met2616IlefsTer13
ENST00000452508.6:c.7848_7854del (ATM)	ENSP00000388058.2:p.Met2616IlefsTer13
ENST00000524755.5:c.300-1260_300-1254del (C11orf65)
ENST00000524792.5:n.4063_4069del (ATM)
ENST00000525056.1:n.45_51del (ATM)
ENST00000525729.5:c.641-23756_641-23750del (C11orf65)	ENSP00000433395.1:n.641-23756_641-23750del
ENST00000527531.5:c.*1270-1260_*1270-1254del (C11orf65)	ENSP00000431706.1:n.*1270-1260_*1270-1254del
ENST00000533690.5:n.3252_3258del (ATM)
ENST00000533979.5:n.60_66del (ATM)
ENST00000615746.4:c.*1270-1260_*1270-1254del (C11orf65)	ENSP00000483537.1:n.*1270-1260_*1270-1254del
NM_000051.3:c.7848_7854del , LRG_135t1:c.7848_7854del (ATM)	NP_000042.3:p.Met2616IlefsTer13
XM_005271414.3:c.*39-1260_*39-1254del (C11orf65)	XP_005271471.1:n.*39-1260_*39-1254del
XM_005271415.3:c.805-1260_805-1254del (C11orf65)	XP_005271472.1:n.805-1260_805-1254del
XM_005271561.3:c.7848_7854del (ATM)	XP_005271618.2:p.Met2616IlefsTer13
XM_005271562.3:c.7848_7854del (ATM)	XP_005271619.2:p.Met2616IlefsTer13
XM_006718843.2:c.7848_7854del (ATM)	XP_006718906.1:p.Met2616IlefsTer13
XM_006718845.1:c.3804_3810del (ATM)	XP_006718908.1:p.Met1268IlefsTer13
XM_011542840.1:c.7848_7854del (ATM)	XP_011541142.1:p.Met2616IlefsTer13
XM_011542841.1:c.7848_7854del (ATM)	XP_011541143.1:p.Met2616IlefsTer13
XM_011542842.1:c.7683_7689del (ATM)	XP_011541144.1:p.Met2561IlefsTer13
XM_011542843.1:c.7848_7854del (ATM)	XP_011541145.1:p.Met2616IlefsTer13
XM_011542844.1:c.6804_6810del (ATM)	XP_011541146.1:p.Met2268IlefsTer13
XM_011542845.1:c.6540_6546del (ATM)	XP_011541147.1:p.Met2180IlefsTer13
XM_011542847.1:c.2919_2925del (ATM)	XP_011541149.1:p.Met973IlefsTer13
NM_001330368.1:c.641-23756_641-23750del (C11orf65)	NP_001317297.1:n.641-23756_641-23750del
NM_001351110.1:c.*38+2393_*38+2399del (C11orf65)	NP_001338039.1:n.*38+2393_*38+2399del
NM_001351834.1:c.7848_7854del (ATM)	NP_001338763.1:p.Met2616IlefsTer13
NR_147053.2:n.2375-1260_2375-1254del (C11orf65)
XM_005271414.4:c.*39-1260_*39-1254del (C11orf65)	XP_005271471.1:n.*39-1260_*39-1254del
XM_005271415.4:c.805-1260_805-1254del (C11orf65)	XP_005271472.1:n.805-1260_805-1254del
XM_005271562.5:c.7848_7854del (ATM)	XP_005271619.2:p.Met2616IlefsTer13
XM_006718843.4:c.7848_7854del (ATM)	XP_006718906.1:p.Met2616IlefsTer13
XM_006718845.2:c.3804_3810del (ATM)	XP_006718908.1:p.Met1268IlefsTer13
XM_011542840.3:c.7848_7854del (ATM)	XP_011541142.1:p.Met2616IlefsTer13
XM_011542842.3:c.7683_7689del (ATM)	XP_011541144.1:p.Met2561IlefsTer13
XM_011542843.2:c.7848_7854del (ATM)	XP_011541145.1:p.Met2616IlefsTer13
XM_011542844.3:c.6804_6810del (ATM)	XP_011541146.1:p.Met2268IlefsTer13
XM_011542845.2:c.6540_6546del (ATM)	XP_011541147.1:p.Met2180IlefsTer13
XM_017017789.2:c.7848_7854del (ATM)	XP_016873278.1:p.Met2616IlefsTer13
XM_017017790.2:c.7848_7854del (ATM)	XP_016873279.1:p.Met2616IlefsTer13
NM_001330368.2:c.641-23756_641-23750del (C11orf65)	NP_001317297.1:n.641-23756_641-23750del
NM_001351110.2:c.*38+2393_*38+2399del (C11orf65)	NP_001338039.1:n.*38+2393_*38+2399del
NM_001351834.2:c.7848_7854del (ATM)	NP_001338763.1:p.Met2616IlefsTer13
NM_000051.4:c.7848_7854del (ATM) MANE Select	NP_000042.3:p.Met2616IlefsTer13
NR_147053.3:n.2373-1260_2373-1254del (C11orf65)