Canonical Allele Identifier: CA1998804483
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108308970C= , CM000673.2:g.108308970C= GRCh38
NC_000011.9:g.108179697C= , CM000673.1:g.108179697C= GRCh37
NC_000011.8:g.107684907C= NCBI36
NG_009830.1:g.91139C= , LRG_135:g.91139C=
NG_054724.1:g.165863G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5762+986C= (ATM) ENSP00000388058.2:n.5762+986C=
ENST00000713593.1:c.*5233+986C= (ATM) ENSP00000518889.1:n.*5233+986C=
ENST00000278616.9:c.5762+986C= (ATM) ENSP00000278616.4:n.5762+986C=
ENST00000525056.2:n.181+986C= (ATM)
ENST00000682286.1:n.519+986C= (ATM)
ENST00000682302.1:n.180+986C= (ATM)
ENST00000683174.1:n.7246+986C= (ATM)
ENST00000683524.1:n.986+986C= (ATM)
ENST00000684152.1:n.1476+986C= (ATM)
ENST00000527805.6:c.*826+986C= (ATM) ENSP00000435747.2:n.*826+986C=
ENST00000675595.1:c.*826+986C= (ATM) ENSP00000502563.1:n.*826+986C=
ENST00000675843.1:c.5762+986C= (ATM) MANE Select ENSP00000501606.1:n.5762+986C=
ENST00000278616.8:c.5762+986C= (ATM) ENSP00000278616.4:n.5762+986C=
ENST00000452508.6:c.5762+986C= (ATM) ENSP00000388058.2:n.5762+986C=
ENST00000524792.5:n.1977+986C= (ATM)
ENST00000525729.5:c.*1G= (C11orf65) ENSP00000433395.1:n.*1G=
ENST00000529588.5:c.187-1190C= (ATM)
ENST00000532765.1:n.79+900C= (ATM)
ENST00000533690.5:n.1166+986C= (ATM)
NM_000051.3:c.5762+986C= , LRG_135t1:c.5762+986C= (ATM) NP_000042.3:n.5762+986C=
XM_005271561.3:c.5762+986C= (ATM) XP_005271618.2:n.5762+986C=
XM_005271562.3:c.5762+986C= (ATM) XP_005271619.2:n.5762+986C=
XM_006718843.2:c.5762+986C= (ATM) XP_006718906.1:n.5762+986C=
XM_006718845.1:c.1718+986C= (ATM) XP_006718908.1:n.1718+986C=
XM_011542840.1:c.5762+986C= (ATM) XP_011541142.1:n.5762+986C=
XM_011542841.1:c.5762+986C= (ATM) XP_011541143.1:n.5762+986C=
XM_011542842.1:c.5597+986C= (ATM) XP_011541144.1:n.5597+986C=
XM_011542843.1:c.5762+986C= (ATM) XP_011541145.1:n.5762+986C=
XM_011542844.1:c.4718+986C= (ATM) XP_011541146.1:n.4718+986C=
XM_011542845.1:c.4454+986C= (ATM) XP_011541147.1:n.4454+986C=
XM_011542847.1:c.833+986C= (ATM) XP_011541149.1:n.833+986C=
NM_001330368.1:c.*1G= (C11orf65) NP_001317297.1:n.*1G=
NM_001351110.1:c.*140G= (C11orf65) NP_001338039.1:n.*140G=
NM_001351834.1:c.5762+986C= (ATM) NP_001338763.1:n.5762+986C=
XM_005271562.5:c.5762+986C= (ATM) XP_005271619.2:n.5762+986C=
XM_006718843.4:c.5762+986C= (ATM) XP_006718906.1:n.5762+986C=
XM_006718845.2:c.1718+986C= (ATM) XP_006718908.1:n.1718+986C=
XM_011542840.3:c.5762+986C= (ATM) XP_011541142.1:n.5762+986C=
XM_011542842.3:c.5597+986C= (ATM) XP_011541144.1:n.5597+986C=
XM_011542843.2:c.5762+986C= (ATM) XP_011541145.1:n.5762+986C=
XM_011542844.3:c.4718+986C= (ATM) XP_011541146.1:n.4718+986C=
XM_011542845.2:c.4454+986C= (ATM) XP_011541147.1:n.4454+986C=
XM_017017789.2:c.5762+986C= (ATM) XP_016873278.1:n.5762+986C=
XM_017017790.2:c.5762+986C= (ATM) XP_016873279.1:n.5762+986C=
XM_017017791.1:c.5762+986C= (ATM) XP_016873280.1:n.5762+986C=
XR_002957150.1:n.6362+986C= (ATM)
NM_001330368.2:c.*1G= (C11orf65) NP_001317297.1:n.*1G=
NM_001351110.2:c.*140G= (C11orf65) NP_001338039.1:n.*140G=
NM_001351834.2:c.5762+986C= (ATM) NP_001338763.1:n.5762+986C=
NM_000051.4:c.5762+986C= (ATM) MANE Select NP_000042.3:n.5762+986C=