Canonical Allele Identifier: CA1998800878
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108315886G= , CM000673.2:g.108315886G= GRCh38
NC_000011.9:g.108186613G= , CM000673.1:g.108186613G= GRCh37
NC_000011.8:g.107691823G= NCBI36
NG_009830.1:g.98055G= , LRG_135:g.98055G=
NG_054724.1:g.158947C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6070G= (ATM) ENSP00000388058.2:p.Gly2024=
ENST00000713593.1:c.*5541G= (ATM) ENSP00000518889.1:n.*5541G=
ENST00000278616.9:c.6070G= (ATM) ENSP00000278616.4:p.Gly2024=
ENST00000525056.2:n.489G= (ATM)
ENST00000682286.1:n.827G= (ATM)
ENST00000682302.1:n.488G= (ATM)
ENST00000683174.1:n.7554G= (ATM)
ENST00000683524.1:n.1294G= (ATM)
ENST00000684152.1:n.1784G= (ATM)
ENST00000527805.6:c.*1134G= (ATM) ENSP00000435747.2:n.*1134G=
ENST00000675595.1:c.*1134G= (ATM) ENSP00000502563.1:n.*1134G=
ENST00000675843.1:c.6070G= (ATM) MANE Select ENSP00000501606.1:p.Gly2024=
ENST00000278616.8:c.6070G= (ATM) ENSP00000278616.4:p.Gly2024=
ENST00000452508.6:c.6070G= (ATM) ENSP00000388058.2:p.Gly2024=
ENST00000524792.5:n.2285G= (ATM)
ENST00000525729.5:c.641-6815C= (C11orf65) ENSP00000433395.1:n.641-6815C=
ENST00000529588.5:c.494G= (ATM)
ENST00000532765.1:n.387G= (ATM)
ENST00000533690.5:n.1474G= (ATM)
NM_000051.3:c.6070G= , LRG_135t1:c.6070G= (ATM) NP_000042.3:p.Gly2024=
XM_005271561.3:c.6070G= (ATM) XP_005271618.2:p.Gly2024=
XM_005271562.3:c.6070G= (ATM) XP_005271619.2:p.Gly2024=
XM_006718843.2:c.6070G= (ATM) XP_006718906.1:p.Gly2024=
XM_006718845.1:c.2026G= (ATM) XP_006718908.1:p.Gly676=
XM_011542840.1:c.6070G= (ATM) XP_011541142.1:p.Gly2024=
XM_011542841.1:c.6070G= (ATM) XP_011541143.1:p.Gly2024=
XM_011542842.1:c.5905G= (ATM) XP_011541144.1:p.Gly1969=
XM_011542843.1:c.6070G= (ATM) XP_011541145.1:p.Gly2024=
XM_011542844.1:c.5026G= (ATM) XP_011541146.1:p.Gly1676=
XM_011542845.1:c.4762G= (ATM) XP_011541147.1:p.Gly1588=
XM_011542847.1:c.1141G= (ATM) XP_011541149.1:p.Gly381=
NM_001330368.1:c.641-6815C= (C11orf65) NP_001317297.1:n.641-6815C=
NM_001351110.1:c.*39-6815C= (C11orf65) NP_001338039.1:n.*39-6815C=
NM_001351834.1:c.6070G= (ATM) NP_001338763.1:p.Gly2024=
XM_005271562.5:c.6070G= (ATM) XP_005271619.2:p.Gly2024=
XM_006718843.4:c.6070G= (ATM) XP_006718906.1:p.Gly2024=
XM_006718845.2:c.2026G= (ATM) XP_006718908.1:p.Gly676=
XM_011542840.3:c.6070G= (ATM) XP_011541142.1:p.Gly2024=
XM_011542842.3:c.5905G= (ATM) XP_011541144.1:p.Gly1969=
XM_011542843.2:c.6070G= (ATM) XP_011541145.1:p.Gly2024=
XM_011542844.3:c.5026G= (ATM) XP_011541146.1:p.Gly1676=
XM_011542845.2:c.4762G= (ATM) XP_011541147.1:p.Gly1588=
XM_017017789.2:c.6070G= (ATM) XP_016873278.1:p.Gly2024=
XM_017017790.2:c.6070G= (ATM) XP_016873279.1:p.Gly2024=
XM_017017791.1:c.6070G= (ATM) XP_016873280.1:p.Gly2024=
NM_001330368.2:c.641-6815C= (C11orf65) NP_001317297.1:n.641-6815C=
NM_001351110.2:c.*39-6815C= (C11orf65) NP_001338039.1:n.*39-6815C=
NM_001351834.2:c.6070G= (ATM) NP_001338763.1:p.Gly2024=
NM_000051.4:c.6070G= (ATM) MANE Select NP_000042.3:p.Gly2024=