Canonical Allele Identifier: CA2725235868
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136568251

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332841_108332852del , CM000673.2:g.108332841_108332852del GRCh38
NC_000011.9:g.108203568_108203579del , CM000673.1:g.108203568_108203579del GRCh37
NC_000011.8:g.107708778_107708789del NCBI36
NG_009830.1:g.115010_115021del , LRG_135:g.115010_115021del
NG_054724.1:g.141981_141992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7868_7879del (ATM) ENSP00000388058.2:p.Leu2623_Tyr2627delinsHis
ENST00000713593.1:c.*7339_*7350del (ATM) ENSP00000518889.1:n.*7339_*7350del
ENST00000278616.9:c.7868_7879del (ATM) ENSP00000278616.4:p.Leu2623_Tyr2627delinsHis
ENST00000525056.2:n.2287_2298del (ATM)
ENST00000525537.3:n.1549_1560del (ATM)
ENST00000638786.2:n.625+804_625+815del (ATM)
ENST00000682286.1:n.2625_2636del (ATM)
ENST00000682302.1:n.2286_2297del (ATM)
ENST00000683174.1:n.9352_9363del (ATM)
ENST00000683524.1:n.3092_3103del (ATM)
ENST00000684152.1:n.3344-1045_3344-1034del (ATM)
ENST00000684180.1:n.342_353del (ATM)
ENST00000684447.1:n.3376_3387del (ATM)
ENST00000527805.6:c.*2932_*2943del (ATM) ENSP00000435747.2:n.*2932_*2943del
ENST00000675595.1:c.*3003_*3014del (ATM) ENSP00000502563.1:n.*3003_*3014del
ENST00000675843.1:c.7868_7879del (ATM) MANE Select ENSP00000501606.1:p.Leu2623_Tyr2627delinsHis
ENST00000278616.8:c.7868_7879del (ATM) ENSP00000278616.4:p.Leu2623_Tyr2627delinsHis
ENST00000452508.6:c.7868_7879del (ATM) ENSP00000388058.2:p.Leu2623_Tyr2627delinsHis
ENST00000524755.5:c.300-1285_300-1274del (C11orf65)
ENST00000524792.5:n.4083_4094del (ATM)
ENST00000525056.1:n.65_76del (ATM)
ENST00000525729.5:c.641-23781_641-23770del (C11orf65) ENSP00000433395.1:n.641-23781_641-23770del
ENST00000527531.5:c.*1270-1285_*1270-1274del (C11orf65) ENSP00000431706.1:n.*1270-1285_*1270-1274del
ENST00000533690.5:n.3272_3283del (ATM)
ENST00000533979.5:n.80_91del (ATM)
ENST00000615746.4:c.*1270-1285_*1270-1274del (C11orf65) ENSP00000483537.1:n.*1270-1285_*1270-1274del
NM_000051.3:c.7868_7879del , LRG_135t1:c.7868_7879del (ATM) NP_000042.3:p.Leu2623_Tyr2627delinsHis
XM_005271414.3:c.*39-1285_*39-1274del (C11orf65) XP_005271471.1:n.*39-1285_*39-1274del
XM_005271415.3:c.805-1285_805-1274del (C11orf65) XP_005271472.1:n.805-1285_805-1274del
XM_005271561.3:c.7868_7879del (ATM) XP_005271618.2:p.Leu2623_Tyr2627delinsHis
XM_005271562.3:c.7868_7879del (ATM) XP_005271619.2:p.Leu2623_Tyr2627delinsHis
XM_006718843.2:c.7868_7879del (ATM) XP_006718906.1:p.Leu2623_Tyr2627delinsHis
XM_006718845.1:c.3824_3835del (ATM) XP_006718908.1:p.Leu1275_Tyr1279delinsHis
XM_011542840.1:c.7868_7879del (ATM) XP_011541142.1:p.Leu2623_Tyr2627delinsHis
XM_011542841.1:c.7868_7879del (ATM) XP_011541143.1:p.Leu2623_Tyr2627delinsHis
XM_011542842.1:c.7703_7714del (ATM) XP_011541144.1:p.Leu2568_Tyr2572delinsHis
XM_011542843.1:c.7868_7879del (ATM) XP_011541145.1:p.Leu2623_Tyr2627delinsHis
XM_011542844.1:c.6824_6835del (ATM) XP_011541146.1:p.Leu2275_Tyr2279delinsHis
XM_011542845.1:c.6560_6571del (ATM) XP_011541147.1:p.Leu2187_Tyr2191delinsHis
XM_011542847.1:c.2939_2950del (ATM) XP_011541149.1:p.Leu980_Tyr984delinsHis
NM_001330368.1:c.641-23781_641-23770del (C11orf65) NP_001317297.1:n.641-23781_641-23770del
NM_001351110.1:c.*38+2368_*38+2379del (C11orf65) NP_001338039.1:n.*38+2368_*38+2379del
NM_001351834.1:c.7868_7879del (ATM) NP_001338763.1:p.Leu2623_Tyr2627delinsHis
NR_147053.2:n.2375-1285_2375-1274del (C11orf65)
XM_005271414.4:c.*39-1285_*39-1274del (C11orf65) XP_005271471.1:n.*39-1285_*39-1274del
XM_005271415.4:c.805-1285_805-1274del (C11orf65) XP_005271472.1:n.805-1285_805-1274del
XM_005271562.5:c.7868_7879del (ATM) XP_005271619.2:p.Leu2623_Tyr2627delinsHis
XM_006718843.4:c.7868_7879del (ATM) XP_006718906.1:p.Leu2623_Tyr2627delinsHis
XM_006718845.2:c.3824_3835del (ATM) XP_006718908.1:p.Leu1275_Tyr1279delinsHis
XM_011542840.3:c.7868_7879del (ATM) XP_011541142.1:p.Leu2623_Tyr2627delinsHis
XM_011542842.3:c.7703_7714del (ATM) XP_011541144.1:p.Leu2568_Tyr2572delinsHis
XM_011542843.2:c.7868_7879del (ATM) XP_011541145.1:p.Leu2623_Tyr2627delinsHis
XM_011542844.3:c.6824_6835del (ATM) XP_011541146.1:p.Leu2275_Tyr2279delinsHis
XM_011542845.2:c.6560_6571del (ATM) XP_011541147.1:p.Leu2187_Tyr2191delinsHis
XM_017017789.2:c.7868_7879del (ATM) XP_016873278.1:p.Leu2623_Tyr2627delinsHis
XM_017017790.2:c.7868_7879del (ATM) XP_016873279.1:p.Leu2623_Tyr2627delinsHis
NM_001330368.2:c.641-23781_641-23770del (C11orf65) NP_001317297.1:n.641-23781_641-23770del
NM_001351110.2:c.*38+2368_*38+2379del (C11orf65) NP_001338039.1:n.*38+2368_*38+2379del
NM_001351834.2:c.7868_7879del (ATM) NP_001338763.1:p.Leu2623_Tyr2627delinsHis
NM_000051.4:c.7868_7879del (ATM) MANE Select NP_000042.3:p.Leu2623_Tyr2627delinsHis
NR_147053.3:n.2373-1285_2373-1274del (C11orf65)