Canonical Allele Identifier: CA3186315676
Community Standard Title: NM_000051.4(ATM):c.8541G= (p.Glu2847=)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108345865G= , CM000673.2:g.108345865G= GRCh38
NC_000011.9:g.108216592G= , CM000673.1:g.108216592G= GRCh37
NC_000011.8:g.107721802G= NCBI36
NG_009830.1:g.128034G= , LRG_135:g.128034G=
NG_054724.1:g.128968C=

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8541G= (ATM) MANE Select NP_000042.3:p.Glu2847=
ENST00000675843.1:c.8541G= (ATM) MANE Select ENSP00000501606.1:p.Glu2847=
NM_000051.3:c.8541G= , LRG_135t1:c.8541G= (ATM) NP_000042.3:p.Glu2847=
NM_001330368.1:c.641-36794C= (C11orf65) NP_001317297.1:n.641-36794C=
NM_001330368.2:c.641-36794C= (C11orf65) NP_001317297.1:n.641-36794C=
NM_001351110.1:c.695-10573C= (C11orf65) NP_001338039.1:n.695-10573C=
NM_001351110.2:c.695-10573C= (C11orf65) NP_001338039.1:n.695-10573C=
NM_001351834.1:c.8541G= (ATM) NP_001338763.1:p.Glu2847=
NM_001351834.2:c.8541G= (ATM) NP_001338763.1:p.Glu2847=
NR_147053.2:n.2301+9050C= (C11orf65)
NR_147053.3:n.2299+9050C= (C11orf65)
ENST00000278616.8:c.8541G= (ATM) ENSP00000278616.4:p.Glu2847=
ENST00000278616.9:c.8541G= (ATM) ENSP00000278616.4:p.Glu2847=
ENST00000452508.6:c.8541G= (ATM) ENSP00000388058.2:p.Glu2847=
ENST00000452508.7:c.8541G= (ATM) ENSP00000388058.2:p.Glu2847=
ENST00000524755.5:c.227-10573C= (C11orf65)
ENST00000524792.5:n.4756G= (ATM)
ENST00000525729.5:c.641-36794C= (C11orf65) ENSP00000433395.1:n.641-36794C=
ENST00000526725.1:n.272-5501C= (C11orf65)
ENST00000527531.5:c.*1196+9050C= (C11orf65) ENSP00000431706.1:n.*1196+9050C=
ENST00000527805.6:c.*3605G= (ATM) ENSP00000435747.2:n.*3605G=
ENST00000615746.4:c.*1196+9050C= (C11orf65) ENSP00000483537.1:n.*1196+9050C=
ENST00000638786.2:n.1239G= (ATM)
ENST00000675595.1:c.*3676G= (ATM) ENSP00000502563.1:n.*3676G=
ENST00000682286.1:n.3298G= (ATM)
ENST00000682302.1:n.2959G= (ATM)
ENST00000683174.1:n.10025G= (ATM)
ENST00000683524.1:n.3765G= (ATM)
ENST00000684152.1:n.3957G= (ATM)
ENST00000684180.1:n.1015G= (ATM)
ENST00000684447.1:n.5034G= (ATM)
ENST00000713593.1:c.*8012G= (ATM) ENSP00000518889.1:n.*8012G=
XM_005271414.3:c.788-10573C= (C11orf65) XP_005271471.1:n.788-10573C=
XM_005271414.4:c.788-10573C= (C11orf65) XP_005271471.1:n.788-10573C=
XM_005271415.3:c.732-10573C= (C11orf65) XP_005271472.1:n.732-10573C=
XM_005271415.4:c.732-10573C= (C11orf65) XP_005271472.1:n.732-10573C=
XM_005271561.3:c.8541G= (ATM) XP_005271618.2:p.Glu2847=
XM_005271562.3:c.8541G= (ATM) XP_005271619.2:p.Glu2847=
XM_005271562.5:c.8541G= (ATM) XP_005271619.2:p.Glu2847=
XM_006718843.2:c.8541G= (ATM) XP_006718906.1:p.Glu2847=
XM_006718843.4:c.8541G= (ATM) XP_006718906.1:p.Glu2847=
XM_006718845.1:c.4497G= (ATM) XP_006718908.1:p.Glu1499=
XM_006718845.2:c.4497G= (ATM) XP_006718908.1:p.Glu1499=
XM_011542640.1:c.788-5501C= (C11orf65) XP_011540942.1:n.788-5501C=
XM_011542640.2:c.788-5501C= (C11orf65) XP_011540942.1:n.788-5501C=
XM_011542643.1:c.732-5501C= (C11orf65) XP_011540945.1:n.732-5501C=
XM_011542643.2:c.732-5501C= (C11orf65) XP_011540945.1:n.732-5501C=
XM_011542840.1:c.8541G= (ATM) XP_011541142.1:p.Glu2847=
XM_011542840.3:c.8541G= (ATM) XP_011541142.1:p.Glu2847=
XM_011542841.1:c.8541G= (ATM) XP_011541143.1:p.Glu2847=
XM_011542842.1:c.8376G= (ATM) XP_011541144.1:p.Glu2792=
XM_011542842.3:c.8376G= (ATM) XP_011541144.1:p.Glu2792=
XM_011542843.1:c.8541G= (ATM) XP_011541145.1:p.Glu2847=
XM_011542843.2:c.8541G= (ATM) XP_011541145.1:p.Glu2847=
XM_011542844.1:c.7497G= (ATM) XP_011541146.1:p.Glu2499=
XM_011542844.3:c.7497G= (ATM) XP_011541146.1:p.Glu2499=
XM_011542845.1:c.7233G= (ATM) XP_011541147.1:p.Glu2411=
XM_011542845.2:c.7233G= (ATM) XP_011541147.1:p.Glu2411=
XM_011542847.1:c.3612G= (ATM) XP_011541149.1:p.Glu1204=
XM_017017247.1:c.904-5501C= (C11orf65) XP_016872736.1:n.904-5501C=
XM_017017789.2:c.8541G= (ATM) XP_016873278.1:p.Glu2847=
XM_017017790.2:c.8541G= (ATM) XP_016873279.1:p.Glu2847=