Canonical Allele Identifier: CA2831038822
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331913del , CM000673.2:g.108331913del GRCh38
NC_000011.9:g.108202640del , CM000673.1:g.108202640del GRCh37
NC_000011.8:g.107707850del NCBI36
NG_009830.1:g.114082del , LRG_135:g.114082del
NG_054724.1:g.142920del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7664del (ATM) ENSP00000388058.2:p.His2555ProfsTer9
ENST00000713593.1:c.*7135del (ATM) ENSP00000518889.1:n.*7135del
ENST00000278616.9:c.7664del (ATM) ENSP00000278616.4:p.His2555ProfsTer9
ENST00000525056.2:n.2083del (ATM)
ENST00000525537.3:n.621del (ATM)
ENST00000638786.2:n.501del (ATM)
ENST00000682286.1:n.2421del (ATM)
ENST00000682302.1:n.2082del (ATM)
ENST00000683174.1:n.9148del (ATM)
ENST00000683524.1:n.2888del (ATM)
ENST00000684152.1:n.3343+356del (ATM)
ENST00000684447.1:n.2448del (ATM)
ENST00000527805.6:c.*2728del (ATM) ENSP00000435747.2:n.*2728del
ENST00000675595.1:c.*2799del (ATM) ENSP00000502563.1:n.*2799del
ENST00000675843.1:c.7664del (ATM) MANE Select ENSP00000501606.1:p.His2555ProfsTer9
ENST00000278616.8:c.7664del (ATM) ENSP00000278616.4:p.His2555ProfsTer9
ENST00000452508.6:c.7664del (ATM) ENSP00000388058.2:p.His2555ProfsTer9
ENST00000524755.5:c.300-346del (C11orf65)
ENST00000524792.5:n.3879del (ATM)
ENST00000525729.5:c.641-22842del (C11orf65) ENSP00000433395.1:n.641-22842del
ENST00000527531.5:c.*1270-346del (C11orf65) ENSP00000431706.1:n.*1270-346del
ENST00000533690.5:n.3068del (ATM)
ENST00000615746.4:c.*1270-346del (C11orf65) ENSP00000483537.1:n.*1270-346del
NM_000051.3:c.7664del , LRG_135t1:c.7664del (ATM) NP_000042.3:p.His2555ProfsTer9
XM_005271414.3:c.*39-346del (C11orf65) XP_005271471.1:n.*39-346del
XM_005271415.3:c.805-346del (C11orf65) XP_005271472.1:n.805-346del
XM_005271561.3:c.7664del (ATM) XP_005271618.2:p.His2555ProfsTer9
XM_005271562.3:c.7664del (ATM) XP_005271619.2:p.His2555ProfsTer9
XM_006718843.2:c.7664del (ATM) XP_006718906.1:p.His2555ProfsTer9
XM_006718845.1:c.3620del (ATM) XP_006718908.1:p.His1207ProfsTer9
XM_011542840.1:c.7664del (ATM) XP_011541142.1:p.His2555ProfsTer9
XM_011542841.1:c.7664del (ATM) XP_011541143.1:p.His2555ProfsTer9
XM_011542842.1:c.7499del (ATM) XP_011541144.1:p.His2500ProfsTer9
XM_011542843.1:c.7664del (ATM) XP_011541145.1:p.His2555ProfsTer9
XM_011542844.1:c.6620del (ATM) XP_011541146.1:p.His2207ProfsTer9
XM_011542845.1:c.6356del (ATM) XP_011541147.1:p.His2119ProfsTer9
XM_011542847.1:c.2735del (ATM) XP_011541149.1:p.His912ProfsTer9
NM_001330368.1:c.641-22842del (C11orf65) NP_001317297.1:n.641-22842del
NM_001351110.1:c.*38+3307del (C11orf65) NP_001338039.1:n.*38+3307del
NM_001351834.1:c.7664del (ATM) NP_001338763.1:p.His2555ProfsTer9
NR_147053.2:n.2375-346del (C11orf65)
XM_005271414.4:c.*39-346del (C11orf65) XP_005271471.1:n.*39-346del
XM_005271415.4:c.805-346del (C11orf65) XP_005271472.1:n.805-346del
XM_005271562.5:c.7664del (ATM) XP_005271619.2:p.His2555ProfsTer9
XM_006718843.4:c.7664del (ATM) XP_006718906.1:p.His2555ProfsTer9
XM_006718845.2:c.3620del (ATM) XP_006718908.1:p.His1207ProfsTer9
XM_011542840.3:c.7664del (ATM) XP_011541142.1:p.His2555ProfsTer9
XM_011542842.3:c.7499del (ATM) XP_011541144.1:p.His2500ProfsTer9
XM_011542843.2:c.7664del (ATM) XP_011541145.1:p.His2555ProfsTer9
XM_011542844.3:c.6620del (ATM) XP_011541146.1:p.His2207ProfsTer9
XM_011542845.2:c.6356del (ATM) XP_011541147.1:p.His2119ProfsTer9
XM_017017789.2:c.7664del (ATM) XP_016873278.1:p.His2555ProfsTer9
XM_017017790.2:c.7664del (ATM) XP_016873279.1:p.His2555ProfsTer9
NM_001330368.2:c.641-22842del (C11orf65) NP_001317297.1:n.641-22842del
NM_001351110.2:c.*38+3307del (C11orf65) NP_001338039.1:n.*38+3307del
NM_001351834.2:c.7664del (ATM) NP_001338763.1:p.His2555ProfsTer9
NM_000051.4:c.7664del (ATM) MANE Select NP_000042.3:p.His2555ProfsTer9
NR_147053.3:n.2373-346del (C11orf65)