Canonical Allele Identifier: CA476677312
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332767A>C , CM000673.2:g.108332767A>C GRCh38
NC_000011.9:g.108203494A>C , CM000673.1:g.108203494A>C GRCh37
NC_000011.8:g.107708704A>C NCBI36
NG_009830.1:g.114936A>C , LRG_135:g.114936A>C
NG_054724.1:g.142066T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7794A>C (ATM) ENSP00000388058.2:p.Arg2598=
ENST00000713593.1:c.*7265A>C (ATM) ENSP00000518889.1:n.*7265A>C
ENST00000278616.9:c.7794A>C (ATM) ENSP00000278616.4:p.Arg2598=
ENST00000525056.2:n.2213A>C (ATM)
ENST00000525537.3:n.1475A>C (ATM)
ENST00000638786.2:n.625+730A>C (ATM)
ENST00000682286.1:n.2551A>C (ATM)
ENST00000682302.1:n.2212A>C (ATM)
ENST00000683174.1:n.9278A>C (ATM)
ENST00000683524.1:n.3018A>C (ATM)
ENST00000684152.1:n.3344-1119A>C (ATM)
ENST00000684180.1:n.268A>C (ATM)
ENST00000684447.1:n.3302A>C (ATM)
ENST00000527805.6:c.*2858A>C (ATM) ENSP00000435747.2:n.*2858A>C
ENST00000675595.1:c.*2929A>C (ATM) ENSP00000502563.1:n.*2929A>C
ENST00000675843.1:c.7794A>C (ATM) MANE Select ENSP00000501606.1:p.Arg2598=
ENST00000278616.8:c.7794A>C (ATM) ENSP00000278616.4:p.Arg2598=
ENST00000452508.6:c.7794A>C (ATM) ENSP00000388058.2:p.Arg2598=
ENST00000524755.5:c.300-1200T>G (C11orf65)
ENST00000524792.5:n.4009A>C (ATM)
ENST00000525729.5:c.641-23696T>G (C11orf65) ENSP00000433395.1:n.641-23696T>G
ENST00000527531.5:c.*1270-1200T>G (C11orf65) ENSP00000431706.1:n.*1270-1200T>G
ENST00000533690.5:n.3198A>C (ATM)
ENST00000533979.5:n.6A>C (ATM)
ENST00000615746.4:c.*1270-1200T>G (C11orf65) ENSP00000483537.1:n.*1270-1200T>G
NM_000051.3:c.7794A>C , LRG_135t1:c.7794A>C (ATM) NP_000042.3:p.Arg2598=
XM_005271414.3:c.*39-1200T>G (C11orf65) XP_005271471.1:n.*39-1200T>G
XM_005271415.3:c.805-1200T>G (C11orf65) XP_005271472.1:n.805-1200T>G
XM_005271561.3:c.7794A>C (ATM) XP_005271618.2:p.Arg2598=
XM_005271562.3:c.7794A>C (ATM) XP_005271619.2:p.Arg2598=
XM_006718843.2:c.7794A>C (ATM) XP_006718906.1:p.Arg2598=
XM_006718845.1:c.3750A>C (ATM) XP_006718908.1:p.Arg1250=
XM_011542840.1:c.7794A>C (ATM) XP_011541142.1:p.Arg2598=
XM_011542841.1:c.7794A>C (ATM) XP_011541143.1:p.Arg2598=
XM_011542842.1:c.7629A>C (ATM) XP_011541144.1:p.Arg2543=
XM_011542843.1:c.7794A>C (ATM) XP_011541145.1:p.Arg2598=
XM_011542844.1:c.6750A>C (ATM) XP_011541146.1:p.Arg2250=
XM_011542845.1:c.6486A>C (ATM) XP_011541147.1:p.Arg2162=
XM_011542847.1:c.2865A>C (ATM) XP_011541149.1:p.Arg955=
NM_001330368.1:c.641-23696T>G (C11orf65) NP_001317297.1:n.641-23696T>G
NM_001351110.1:c.*38+2453T>G (C11orf65) NP_001338039.1:n.*38+2453T>G
NM_001351834.1:c.7794A>C (ATM) NP_001338763.1:p.Arg2598=
NR_147053.2:n.2375-1200T>G (C11orf65)
XM_005271414.4:c.*39-1200T>G (C11orf65) XP_005271471.1:n.*39-1200T>G
XM_005271415.4:c.805-1200T>G (C11orf65) XP_005271472.1:n.805-1200T>G
XM_005271562.5:c.7794A>C (ATM) XP_005271619.2:p.Arg2598=
XM_006718843.4:c.7794A>C (ATM) XP_006718906.1:p.Arg2598=
XM_006718845.2:c.3750A>C (ATM) XP_006718908.1:p.Arg1250=
XM_011542840.3:c.7794A>C (ATM) XP_011541142.1:p.Arg2598=
XM_011542842.3:c.7629A>C (ATM) XP_011541144.1:p.Arg2543=
XM_011542843.2:c.7794A>C (ATM) XP_011541145.1:p.Arg2598=
XM_011542844.3:c.6750A>C (ATM) XP_011541146.1:p.Arg2250=
XM_011542845.2:c.6486A>C (ATM) XP_011541147.1:p.Arg2162=
XM_017017789.2:c.7794A>C (ATM) XP_016873278.1:p.Arg2598=
XM_017017790.2:c.7794A>C (ATM) XP_016873279.1:p.Arg2598=
NM_001330368.2:c.641-23696T>G (C11orf65) NP_001317297.1:n.641-23696T>G
NM_001351110.2:c.*38+2453T>G (C11orf65) NP_001338039.1:n.*38+2453T>G
NM_001351834.2:c.7794A>C (ATM) NP_001338763.1:p.Arg2598=
NM_000051.4:c.7794A>C (ATM) MANE Select NP_000042.3:p.Arg2598=
NR_147053.3:n.2373-1200T>G (C11orf65)
Search 100 bp 5'
Search 100 bp 3'