Canonical Allele Identifier: CA1998816105
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108343343G= , CM000673.2:g.108343343G= GRCh38
NC_000011.9:g.108214070G= , CM000673.1:g.108214070G= GRCh37
NC_000011.8:g.107719280G= NCBI36
NG_009830.1:g.125512G= , LRG_135:g.125512G=
NG_054724.1:g.131490C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8390G= (ATM) ENSP00000388058.2:p.Ser2797=
ENST00000713593.1:c.*7861G= (ATM) ENSP00000518889.1:n.*7861G=
ENST00000278616.9:c.8390G= (ATM) ENSP00000278616.4:p.Ser2797=
ENST00000638786.2:n.1088G= (ATM)
ENST00000682286.1:n.3147G= (ATM)
ENST00000682302.1:n.2808G= (ATM)
ENST00000683174.1:n.9874G= (ATM)
ENST00000683524.1:n.3614G= (ATM)
ENST00000684152.1:n.3806G= (ATM)
ENST00000684180.1:n.864G= (ATM)
ENST00000684447.1:n.4883G= (ATM)
ENST00000527805.6:c.*3454G= (ATM) ENSP00000435747.2:n.*3454G=
ENST00000675595.1:c.*3525G= (ATM) ENSP00000502563.1:n.*3525G=
ENST00000675843.1:c.8390G= (ATM) MANE Select ENSP00000501606.1:p.Ser2797=
ENST00000278616.8:c.8390G= (ATM) ENSP00000278616.4:p.Ser2797=
ENST00000452508.6:c.8390G= (ATM) ENSP00000388058.2:p.Ser2797=
ENST00000524755.5:c.227-8051C= (C11orf65)
ENST00000524792.5:n.4605G= (ATM)
ENST00000525729.5:c.641-34272C= (C11orf65) ENSP00000433395.1:n.641-34272C=
ENST00000526725.1:n.272-2979C= (C11orf65)
ENST00000527531.5:c.*1197-8051C= (C11orf65) ENSP00000431706.1:n.*1197-8051C=
ENST00000615746.4:c.*1197-8051C= (C11orf65) ENSP00000483537.1:n.*1197-8051C=
NM_000051.3:c.8390G= , LRG_135t1:c.8390G= (ATM) NP_000042.3:p.Ser2797=
XM_005271414.3:c.788-8051C= (C11orf65) XP_005271471.1:n.788-8051C=
XM_005271415.3:c.732-8051C= (C11orf65) XP_005271472.1:n.732-8051C=
XM_005271561.3:c.8390G= (ATM) XP_005271618.2:p.Ser2797=
XM_005271562.3:c.8390G= (ATM) XP_005271619.2:p.Ser2797=
XM_006718843.2:c.8390G= (ATM) XP_006718906.1:p.Ser2797=
XM_006718845.1:c.4346G= (ATM) XP_006718908.1:p.Ser1449=
XM_011542640.1:c.788-2979C= (C11orf65) XP_011540942.1:n.788-2979C=
XM_011542643.1:c.732-2979C= (C11orf65) XP_011540945.1:n.732-2979C=
XM_011542840.1:c.8390G= (ATM) XP_011541142.1:p.Ser2797=
XM_011542841.1:c.8390G= (ATM) XP_011541143.1:p.Ser2797=
XM_011542842.1:c.8225G= (ATM) XP_011541144.1:p.Ser2742=
XM_011542843.1:c.8390G= (ATM) XP_011541145.1:p.Ser2797=
XM_011542844.1:c.7346G= (ATM) XP_011541146.1:p.Ser2449=
XM_011542845.1:c.7082G= (ATM) XP_011541147.1:p.Ser2361=
XM_011542847.1:c.3461G= (ATM) XP_011541149.1:p.Ser1154=
NM_001330368.1:c.641-34272C= (C11orf65) NP_001317297.1:n.641-34272C=
NM_001351110.1:c.695-8051C= (C11orf65) NP_001338039.1:n.695-8051C=
NM_001351834.1:c.8390G= (ATM) NP_001338763.1:p.Ser2797=
NR_147053.2:n.2302-8051C= (C11orf65)
XM_005271414.4:c.788-8051C= (C11orf65) XP_005271471.1:n.788-8051C=
XM_005271415.4:c.732-8051C= (C11orf65) XP_005271472.1:n.732-8051C=
XM_005271562.5:c.8390G= (ATM) XP_005271619.2:p.Ser2797=
XM_006718843.4:c.8390G= (ATM) XP_006718906.1:p.Ser2797=
XM_006718845.2:c.4346G= (ATM) XP_006718908.1:p.Ser1449=
XM_011542640.2:c.788-2979C= (C11orf65) XP_011540942.1:n.788-2979C=
XM_011542643.2:c.732-2979C= (C11orf65) XP_011540945.1:n.732-2979C=
XM_011542840.3:c.8390G= (ATM) XP_011541142.1:p.Ser2797=
XM_011542842.3:c.8225G= (ATM) XP_011541144.1:p.Ser2742=
XM_011542843.2:c.8390G= (ATM) XP_011541145.1:p.Ser2797=
XM_011542844.3:c.7346G= (ATM) XP_011541146.1:p.Ser2449=
XM_011542845.2:c.7082G= (ATM) XP_011541147.1:p.Ser2361=
XM_017017247.1:c.904-2979C= (C11orf65) XP_016872736.1:n.904-2979C=
XM_017017789.2:c.8390G= (ATM) XP_016873278.1:p.Ser2797=
XM_017017790.2:c.8390G= (ATM) XP_016873279.1:p.Ser2797=
NM_001330368.2:c.641-34272C= (C11orf65) NP_001317297.1:n.641-34272C=
NM_001351110.2:c.695-8051C= (C11orf65) NP_001338039.1:n.695-8051C=
NM_001351834.2:c.8390G= (ATM) NP_001338763.1:p.Ser2797=
NM_000051.4:c.8390G= (ATM) MANE Select NP_000042.3:p.Ser2797=
NR_147053.3:n.2300-8051C= (C11orf65)