Canonical Allele Identifier: CA1998809709
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331505G= , CM000673.2:g.108331505G= GRCh38
NC_000011.9:g.108202232G= , CM000673.1:g.108202232G= GRCh37
NC_000011.8:g.107707442G= NCBI36
NG_009830.1:g.113674G= , LRG_135:g.113674G=
NG_054724.1:g.143328C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7577G= (ATM) ENSP00000388058.2:p.Arg2526=
ENST00000713593.1:c.*7048G= (ATM) ENSP00000518889.1:n.*7048G=
ENST00000278616.9:c.7577G= (ATM) ENSP00000278616.4:p.Arg2526=
ENST00000525056.2:n.1996G= (ATM)
ENST00000525537.3:n.534G= (ATM)
ENST00000638786.2:n.414G= (ATM)
ENST00000682286.1:n.2334G= (ATM)
ENST00000682302.1:n.1995G= (ATM)
ENST00000683174.1:n.9061G= (ATM)
ENST00000683524.1:n.2801G= (ATM)
ENST00000684152.1:n.3291G= (ATM)
ENST00000684447.1:n.2040G= (ATM)
ENST00000527805.6:c.*2641G= (ATM) ENSP00000435747.2:n.*2641G=
ENST00000675595.1:c.*2712G= (ATM) ENSP00000502563.1:n.*2712G=
ENST00000675843.1:c.7577G= (ATM) MANE Select ENSP00000501606.1:p.Arg2526=
ENST00000278616.8:c.7577G= (ATM) ENSP00000278616.4:p.Arg2526=
ENST00000452508.6:c.7577G= (ATM) ENSP00000388058.2:p.Arg2526=
ENST00000524755.5:c.362C= (C11orf65)
ENST00000524792.5:n.3792G= (ATM)
ENST00000525729.5:c.641-22434C= (C11orf65) ENSP00000433395.1:n.641-22434C=
ENST00000527531.5:c.*1332C= (C11orf65) ENSP00000431706.1:n.*1332C=
ENST00000533690.5:n.2981G= (ATM)
ENST00000615746.4:c.*1332C= (C11orf65) ENSP00000483537.1:n.*1332C=
NM_000051.3:c.7577G= , LRG_135t1:c.7577G= (ATM) NP_000042.3:p.Arg2526=
XM_005271414.3:c.*101C= (C11orf65) XP_005271471.1:n.*101C=
XM_005271415.3:c.*45C= (C11orf65) XP_005271472.1:n.*45C=
XM_005271561.3:c.7577G= (ATM) XP_005271618.2:p.Arg2526=
XM_005271562.3:c.7577G= (ATM) XP_005271619.2:p.Arg2526=
XM_006718843.2:c.7577G= (ATM) XP_006718906.1:p.Arg2526=
XM_006718845.1:c.3533G= (ATM) XP_006718908.1:p.Arg1178=
XM_011542840.1:c.7577G= (ATM) XP_011541142.1:p.Arg2526=
XM_011542841.1:c.7577G= (ATM) XP_011541143.1:p.Arg2526=
XM_011542842.1:c.7412G= (ATM) XP_011541144.1:p.Arg2471=
XM_011542843.1:c.7577G= (ATM) XP_011541145.1:p.Arg2526=
XM_011542844.1:c.6533G= (ATM) XP_011541146.1:p.Arg2178=
XM_011542845.1:c.6269G= (ATM) XP_011541147.1:p.Arg2090=
XM_011542847.1:c.2648G= (ATM) XP_011541149.1:p.Arg883=
NM_001330368.1:c.641-22434C= (C11orf65) NP_001317297.1:n.641-22434C=
NM_001351110.1:c.*38+3715C= (C11orf65) NP_001338039.1:n.*38+3715C=
NM_001351834.1:c.7577G= (ATM) NP_001338763.1:p.Arg2526=
NR_147053.2:n.2437C= (C11orf65)
XM_005271414.4:c.*101C= (C11orf65) XP_005271471.1:n.*101C=
XM_005271415.4:c.*45C= (C11orf65) XP_005271472.1:n.*45C=
XM_005271562.5:c.7577G= (ATM) XP_005271619.2:p.Arg2526=
XM_006718843.4:c.7577G= (ATM) XP_006718906.1:p.Arg2526=
XM_006718845.2:c.3533G= (ATM) XP_006718908.1:p.Arg1178=
XM_011542840.3:c.7577G= (ATM) XP_011541142.1:p.Arg2526=
XM_011542842.3:c.7412G= (ATM) XP_011541144.1:p.Arg2471=
XM_011542843.2:c.7577G= (ATM) XP_011541145.1:p.Arg2526=
XM_011542844.3:c.6533G= (ATM) XP_011541146.1:p.Arg2178=
XM_011542845.2:c.6269G= (ATM) XP_011541147.1:p.Arg2090=
XM_017017789.2:c.7577G= (ATM) XP_016873278.1:p.Arg2526=
XM_017017790.2:c.7577G= (ATM) XP_016873279.1:p.Arg2526=
NM_001330368.2:c.641-22434C= (C11orf65) NP_001317297.1:n.641-22434C=
NM_001351110.2:c.*38+3715C= (C11orf65) NP_001338039.1:n.*38+3715C=
NM_001351834.2:c.7577G= (ATM) NP_001338763.1:p.Arg2526=
NM_000051.4:c.7577G= (ATM) MANE Select NP_000042.3:p.Arg2526=
NR_147053.3:n.2435C= (C11orf65)