Canonical Allele Identifier: CA382556841
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136335169

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108326134A>G , CM000673.2:g.108326134A>G GRCh38
NC_000011.9:g.108196861A>G , CM000673.1:g.108196861A>G GRCh37
NC_000011.8:g.107702071A>G NCBI36
NG_009830.1:g.108303A>G , LRG_135:g.108303A>G
NG_054724.1:g.148699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6884A>G (ATM) ENSP00000388058.2:p.Glu2295Gly
ENST00000713593.1:c.*6355A>G (ATM) ENSP00000518889.1:n.*6355A>G
ENST00000278616.9:c.6884A>G (ATM) ENSP00000278616.4:p.Glu2295Gly
ENST00000525056.2:n.1303A>G (ATM)
ENST00000682286.1:n.1641A>G (ATM)
ENST00000682302.1:n.1302A>G (ATM)
ENST00000683174.1:n.8368A>G (ATM)
ENST00000683524.1:n.2108A>G (ATM)
ENST00000684152.1:n.2598A>G (ATM)
ENST00000527805.6:c.*1948A>G (ATM) ENSP00000435747.2:n.*1948A>G
ENST00000675595.1:c.*2019A>G (ATM) ENSP00000502563.1:n.*2019A>G
ENST00000675843.1:c.6884A>G (ATM) MANE Select ENSP00000501606.1:p.Glu2295Gly
ENST00000278616.8:c.6884A>G (ATM) ENSP00000278616.4:p.Glu2295Gly
ENST00000452508.6:c.6884A>G (ATM) ENSP00000388058.2:p.Glu2295Gly
ENST00000524792.5:n.3099A>G (ATM)
ENST00000525729.5:c.641-17063T>C (C11orf65) ENSP00000433395.1:n.641-17063T>C
ENST00000533690.5:n.2288A>G (ATM)
NM_000051.3:c.6884A>G , LRG_135t1:c.6884A>G (ATM) NP_000042.3:p.Glu2295Gly
XM_005271561.3:c.6884A>G (ATM) XP_005271618.2:p.Glu2295Gly
XM_005271562.3:c.6884A>G (ATM) XP_005271619.2:p.Glu2295Gly
XM_006718843.2:c.6884A>G (ATM) XP_006718906.1:p.Glu2295Gly
XM_006718845.1:c.2840A>G (ATM) XP_006718908.1:p.Glu947Gly
XM_011542840.1:c.6884A>G (ATM) XP_011541142.1:p.Glu2295Gly
XM_011542841.1:c.6884A>G (ATM) XP_011541143.1:p.Glu2295Gly
XM_011542842.1:c.6719A>G (ATM) XP_011541144.1:p.Glu2240Gly
XM_011542843.1:c.6884A>G (ATM) XP_011541145.1:p.Glu2295Gly
XM_011542844.1:c.5840A>G (ATM) XP_011541146.1:p.Glu1947Gly
XM_011542845.1:c.5576A>G (ATM) XP_011541147.1:p.Glu1859Gly
XM_011542847.1:c.1955A>G (ATM) XP_011541149.1:p.Glu652Gly
NM_001330368.1:c.641-17063T>C (C11orf65) NP_001317297.1:n.641-17063T>C
NM_001351110.1:c.*38+9086T>C (C11orf65) NP_001338039.1:n.*38+9086T>C
NM_001351834.1:c.6884A>G (ATM) NP_001338763.1:p.Glu2295Gly
XM_005271562.5:c.6884A>G (ATM) XP_005271619.2:p.Glu2295Gly
XM_006718843.4:c.6884A>G (ATM) XP_006718906.1:p.Glu2295Gly
XM_006718845.2:c.2840A>G (ATM) XP_006718908.1:p.Glu947Gly
XM_011542840.3:c.6884A>G (ATM) XP_011541142.1:p.Glu2295Gly
XM_011542842.3:c.6719A>G (ATM) XP_011541144.1:p.Glu2240Gly
XM_011542843.2:c.6884A>G (ATM) XP_011541145.1:p.Glu2295Gly
XM_011542844.3:c.5840A>G (ATM) XP_011541146.1:p.Glu1947Gly
XM_011542845.2:c.5576A>G (ATM) XP_011541147.1:p.Glu1859Gly
XM_017017789.2:c.6884A>G (ATM) XP_016873278.1:p.Glu2295Gly
XM_017017790.2:c.6884A>G (ATM) XP_016873279.1:p.Glu2295Gly
NM_001330368.2:c.641-17063T>C (C11orf65) NP_001317297.1:n.641-17063T>C
NM_001351110.2:c.*38+9086T>C (C11orf65) NP_001338039.1:n.*38+9086T>C
NM_001351834.2:c.6884A>G (ATM) NP_001338763.1:p.Glu2295Gly
NM_000051.4:c.6884A>G (ATM) MANE Select NP_000042.3:p.Glu2295Gly