Canonical Allele Identifier: CA2695215418
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335028del , CM000673.2:g.108335028del GRCh38
NC_000011.9:g.108205755del , CM000673.1:g.108205755del GRCh37
NC_000011.8:g.107710965del NCBI36
NG_009830.1:g.117197del , LRG_135:g.117197del
NG_054724.1:g.139807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8070del (ATM) ENSP00000388058.2:p.Arg2691AlafsTer2
ENST00000713593.1:c.*7541del (ATM) ENSP00000518889.1:n.*7541del
ENST00000278616.9:c.8070del (ATM) ENSP00000278616.4:p.Arg2691AlafsTer2
ENST00000525056.2:n.2489del (ATM)
ENST00000638786.2:n.768del (ATM)
ENST00000682286.1:n.2827del (ATM)
ENST00000682302.1:n.2488del (ATM)
ENST00000683174.1:n.9554del (ATM)
ENST00000683524.1:n.3294del (ATM)
ENST00000684152.1:n.3486del (ATM)
ENST00000684180.1:n.544del (ATM)
ENST00000684447.1:n.4563del (ATM)
ENST00000527805.6:c.*3134del (ATM) ENSP00000435747.2:n.*3134del
ENST00000675595.1:c.*3205del (ATM) ENSP00000502563.1:n.*3205del
ENST00000675843.1:c.8070del (ATM) MANE Select ENSP00000501606.1:p.Arg2691AlafsTer2
ENST00000278616.8:c.8070del (ATM) ENSP00000278616.4:p.Arg2691AlafsTer2
ENST00000452508.6:c.8070del (ATM) ENSP00000388058.2:p.Arg2691AlafsTer2
ENST00000524755.5:c.299+194del (C11orf65)
ENST00000524792.5:n.4285del (ATM)
ENST00000525056.1:n.267del (ATM)
ENST00000525729.5:c.641-25955del (C11orf65) ENSP00000433395.1:n.641-25955del
ENST00000527531.5:c.*1269+194del (C11orf65) ENSP00000431706.1:n.*1269+194del
ENST00000533979.5:n.282del (ATM)
ENST00000615746.4:c.*1269+194del (C11orf65) ENSP00000483537.1:n.*1269+194del
NM_000051.3:c.8070del , LRG_135t1:c.8070del (ATM) NP_000042.3:p.Arg2691AlafsTer2
XM_005271414.3:c.*38+194del (C11orf65) XP_005271471.1:n.*38+194del
XM_005271415.3:c.804+194del (C11orf65) XP_005271472.1:n.804+194del
XM_005271561.3:c.8070del (ATM) XP_005271618.2:p.Arg2691AlafsTer2
XM_005271562.3:c.8070del (ATM) XP_005271619.2:p.Arg2691AlafsTer2
XM_006718843.2:c.8070del (ATM) XP_006718906.1:p.Arg2691AlafsTer2
XM_006718845.1:c.4026del (ATM) XP_006718908.1:p.Arg1343AlafsTer2
XM_011542840.1:c.8070del (ATM) XP_011541142.1:p.Arg2691AlafsTer2
XM_011542841.1:c.8070del (ATM) XP_011541143.1:p.Arg2691AlafsTer2
XM_011542842.1:c.7905del (ATM) XP_011541144.1:p.Arg2636AlafsTer2
XM_011542843.1:c.8070del (ATM) XP_011541145.1:p.Arg2691AlafsTer2
XM_011542844.1:c.7026del (ATM) XP_011541146.1:p.Arg2343AlafsTer2
XM_011542845.1:c.6762del (ATM) XP_011541147.1:p.Arg2255AlafsTer2
XM_011542847.1:c.3141del (ATM) XP_011541149.1:p.Arg1048AlafsTer2
NM_001330368.1:c.641-25955del (C11orf65) NP_001317297.1:n.641-25955del
NM_001351110.1:c.*38+194del (C11orf65) NP_001338039.1:n.*38+194del
NM_001351834.1:c.8070del (ATM) NP_001338763.1:p.Arg2691AlafsTer2
NR_147053.2:n.2374+194del (C11orf65)
XM_005271414.4:c.*38+194del (C11orf65) XP_005271471.1:n.*38+194del
XM_005271415.4:c.804+194del (C11orf65) XP_005271472.1:n.804+194del
XM_005271562.5:c.8070del (ATM) XP_005271619.2:p.Arg2691AlafsTer2
XM_006718843.4:c.8070del (ATM) XP_006718906.1:p.Arg2691AlafsTer2
XM_006718845.2:c.4026del (ATM) XP_006718908.1:p.Arg1343AlafsTer2
XM_011542840.3:c.8070del (ATM) XP_011541142.1:p.Arg2691AlafsTer2
XM_011542842.3:c.7905del (ATM) XP_011541144.1:p.Arg2636AlafsTer2
XM_011542843.2:c.8070del (ATM) XP_011541145.1:p.Arg2691AlafsTer2
XM_011542844.3:c.7026del (ATM) XP_011541146.1:p.Arg2343AlafsTer2
XM_011542845.2:c.6762del (ATM) XP_011541147.1:p.Arg2255AlafsTer2
XM_017017789.2:c.8070del (ATM) XP_016873278.1:p.Arg2691AlafsTer2
XM_017017790.2:c.8070del (ATM) XP_016873279.1:p.Arg2691AlafsTer2
NM_001330368.2:c.641-25955del (C11orf65) NP_001317297.1:n.641-25955del
NM_001351110.2:c.*38+194del (C11orf65) NP_001338039.1:n.*38+194del
NM_001351834.2:c.8070del (ATM) NP_001338763.1:p.Arg2691AlafsTer2
NM_000051.4:c.8070del (ATM) MANE Select NP_000042.3:p.Arg2691AlafsTer2
NR_147053.3:n.2372+194del (C11orf65)